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PMC:1892049 / 3081-19164 JSONTXT

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craft-ca-core-ex-dev

Below, discontinuous spans are shown in the chain model. You can change it to the bag model.

Id Subject Object Predicate Lexical cue
T6015 54-58 NCBITaxon:10088 denotes mice
T6016 80-84 SO_EXT:0000704 denotes gene
T6017 85-90 PR_EXT:000012286 denotes Park7
T6018 109-117 GO_EXT:biological_movement_or_translocation_process denotes movement
T6019 163-179 SO_EXT:0001644 denotes targeting vector
T6020 242-246 NCBITaxon:10088 denotes mice
T6021 286-294 GO_EXT:biological_movement_or_translocation_process denotes movement
T6022 322-327 GO:0050975 denotes touch
T6023 342-351 GO_EXT:biological_movement_or_translocation_process denotes movements
T6024 385-393 UBERON:0005434 denotes cervical
T6025 466-471 NCBITaxon:9606 denotes human
T6026 472-480 GO_EXT:biological_movement_or_translocation_process denotes movement
T6027 568-580 GO:0050879 denotes kinesiogenic
T6028 637-640 CHEBI:24870 denotes ion
T6029 637-648 GO_EXT:0005216 denotes ion channel
T6030 649-657 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6031 684-688 NCBITaxon:10088 denotes mice
T6032 720-725 GO:0007567 denotes natal
T6033 801-809 GO_EXT:breeding denotes Breeding
T6034 879-888 GO:0030849 denotes autosomal
T6035 971-977 SO_EXT:0001026 denotes genome
T6036 1022-1053 SO_EXT:0000694 denotes single nucleotide polymorphisms
T6037 1029-1039 CHEBI_SO_EXT:nucleotide denotes nucleotide
T6038 1055-1059 SO_EXT:0000694 denotes SNPs
T6039 1084-1089 NCBITaxon:10088 denotes mouse
T6040 1090-1096 SO_EXT:0001026 denotes genome
T6041 1137-1144 SO_EXT:0001026 denotes genomic
T6042 1232-1238 CHEBI_SO_EXT:molecular_indicator_or_label_or_marker_or_tag denotes marker
T6043 1257-1267 GO_SO_EXT:chromosome denotes Chromosome
T6044 1285-1294 SO_EXT:0001024 denotes haplotype
T6045 1309-1317 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6046 1458-1464 SO_EXT:sequence_altered_entity_or_alteration_process denotes mutant
T6047 1469-1474 NCBITaxon:10088 denotes mouse
T6048 1561-1568 SO_EXT:0000704 denotes genetic
T6049 1618-1626 SO:0001817 denotes in-frame
T6050 1627-1635 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6051 1639-1644 SO_EXT:0000147 denotes exons
T6052 1662-1666 SO_EXT:0000704 denotes gene
T6053 1667-1672 PR_EXT:000009158 denotes Itpr1
T6054 1674-1679 PR_EXT:000009158 denotes Itpr1
T6055 1690-1698 SO_EXT:sequence_coding_function denotes encoding
T6056 1699-1726 CHEBI_EXT:1D_myo_inositol_1_4_5_trisphosphate denotes inositol 1,4,5-triphosphate
T6057 1699-1735 GO_EXT:0005220 denotes inositol 1,4,5-triphosphate receptor
T6058 1699-1737 PR_EXT:000009158 denotes inositol 1,4,5-triphosphate receptor 1
T6059 1739-1744 PR_EXT:000009158 denotes Itpr1
T6060 1765-1770 SO_EXT:0000147 denotes exons
T6061 1775-1797 SO_EXT:0001421 denotes intron–exon boundaries
T6062 1801-1806 PR_EXT:000009158 denotes Itpr1
T6063 1819-1823 NCBITaxon:10088 denotes mice
T6064 1865-1873 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6065 1881-1886 PR_EXT:000009158 denotes Itpr1
T6066 1896-1904 SO:0001817 denotes in-frame
T6067 1905-1913 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6068 1920-1922 SO_EXT:0000028 denotes bp
T6069 1930-1934 SO_EXT:0000147 denotes exon
T6070 1939-1944 PR_EXT:000009158 denotes Itpr1
T6071 1991-1999 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6072 2024-2028 NCBITaxon:10088 denotes mice
T6073 2053-2058 PR_EXT:000009158 denotes Itpr1
T6074 2058-2060 SO_EXT:wild_type_entity_or_quality denotes wt
T6075 2071-2075 NCBITaxon:10088 denotes mice
T6076 2101-2109 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6077 2111-2116 PR_EXT:000009158 denotes Itpr1
T6078 2116-2118 SO_EXT:wild_type_entity_or_quality denotes wt
T6079 2157-2161 NCBITaxon:10088 denotes mice
T6080 2192-2197 PR_EXT:000009158 denotes Itpr1
T6081 2205-2209 NCBITaxon_UBERON_EXT:pup denotes pups
T6082 2283-2288 PR_EXT:000009158 denotes Itpr1
T6083 2300-2305 PR_EXT:000009158 denotes Itpr1
T6084 2314-2318 NCBITaxon:10088 denotes mice
T6085 2410-2415 NCBITaxon:10088 denotes mouse
T6086 2435-2443 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6087 2447-2452 PR_EXT:000009158 denotes Itpr1
T6088 2521-2526 PR_EXT:000009158 denotes Itpr1
T6089 2535-2539 NCBITaxon:10088 denotes mice
T6090 2551-2559 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6091 2563-2568 SO_EXT:0000147 denotes exons
T6092 2610-2623 GO:0006412 denotes translational
T6093 2624-2637 SO_EXT:0000717 denotes reading frame
T6094 2654-2662 SO:0001817 denotes in-frame
T6095 2663-2668 PR_EXT:000009158 denotes Itpr1
T6096 2676-2684 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6097 2685-2693 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6098 2734-2739 PR_EXT:000009158 denotes Itpr1
T6099 2743-2753 UBERON:0002037 denotes cerebellar
T6100 2743-2768 CL:0000121 denotes cerebellar Purkinje cells
T6101 2763-2768 CL_GO_EXT:cell denotes cells
T6102 2795-2802 SO_EXT:sequence_altered_entity denotes mutants
T6103 2818-2823 PR_EXT:000009158 denotes Itpr1
T6104 2834-2839 NCBITaxon:10088 denotes mouse
T6105 2857-2861 SO_EXT:0000704 denotes gene
T6106 2883-2888 PR_EXT:000009158 denotes Itpr1
T6107 2889-2899 GO:0010467 denotes expression
T6108 2928-2937 GO:0030849 denotes autosomal
T6109 2948-2956 GO_EXT:biological_movement_or_translocation_process denotes movement
T6110 3961-3966 NCBITaxon:9606 denotes human
T6111 3967-3979 UBERON:0001016 denotes neurological
T6112 4022-4027 NCBITaxon:9606 denotes human
T6113 4080-4095 SO_EXT:0005858 denotes syntenic region
T6114 4103-4108 NCBITaxon:9606 denotes human
T6115 4109-4115 SO_EXT:0001026 denotes genome
T6116 4137-4145 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6117 4177-4182 UBERON:0007023 denotes adult
T6119 4265-4273 SO_EXT:missense_quality_or_entity denotes missense
T6120 4274-4282 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6121 4286-4291 PR_EXT:000009158 denotes ITPR1
T6122 4393-4398 PR_EXT:000009158 denotes Itpr1
T6123 4406-4411 PR_EXT:000009158 denotes Itpr1
T6124 4415-4419 NCBITaxon:10088 denotes mice
T6125 4462-4466 NCBITaxon:10088 denotes mice
T6126 4502-4506 SO_EXT:0000704 denotes gene
T6127 4549-4560 SO_EXT:genomic_DNA denotes genomic DNA
T6128 4557-4560 CHEBI_SO_EXT:DNA denotes DNA
T6129 4841-4849 SO_EXT:biological_sequence denotes sequence
T6130 4866-4878 SO_EXT:0000195 denotes coding exons
T6131 4882-4887 PR_EXT:000009158 denotes ITPR1
T6132 4905-4911 SO_EXT:0001026 denotes genome
T6133 4917-4920 SO_EXT:0000694 denotes SNP
T6134 4933-4941 SO_EXT:biological_sequence denotes Sequence
T6135 4970-4976 SO_EXT:sequence_coding_function denotes coding
T6136 4977-4988 SO_EXT:sequence_alteration_entity_or_process denotes alterations
T6137 5021-5032 SO_EXT:sequence_alteration_entity_or_process denotes alterations
T6138 5158-5164 SO_EXT:0001023 denotes allele
T6139 5192-5198 SO_EXT:0001026 denotes genome
T6140 5204-5207 SO_EXT:0000694 denotes SNP
T6141 5282-5289 SO_EXT:0001026 denotes genomic
T6142 5290-5298 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6143 5329-5334 PR_EXT:000009158 denotes ITPR1
T6144 5378-5382 SO_EXT:0000704 denotes gene
T6145 5384-5389 PR_EXT:000015827 denotes SUMF1
T6146 5407-5415 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6147 5554-5557 SO_EXT:0000694 denotes SNP
T6148 5572-5580 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6149 5597-5598 CHEBI_SO_EXT:base denotes b
T6150 5608-5609 CHEBI_SO_EXT:base denotes b
T6151 5634-5638 SO_EXT:0000694 denotes SNPs
T6152 5646-5654 _FRAGMENT denotes flanking
T6153 5663-5670 SO_EXT:0000239 denotes regions
T6154 5679-5687 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6155 5714-5724 _FRAGMENT denotes borders of
T6156 5729-5737 SO_EXT:0000687 denotes deletion
T6157 5746-5747 CHEBI_SO_EXT:base denotes b
T6158 5755-5764 GO_SO_EXT:telomere_or_telomeric_region_or_telomeric_orientation denotes telomeric
T6159 5777-5785 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6160 5831-5832 CHEBI_SO_EXT:base denotes b
T6161 5840-5851 GO_SO_EXT:centromere_or_centromeric_region_or_centromeric_orientation denotes centromeric
T6162 5864-5872 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6163 5946-5955 SO_EXT:sequence_variation_entity_or_quality denotes variation
T6164 5969-5981 SO_EXT:polymorphism denotes polymorphism
T6165 5994-6000 SO_EXT:0001026 denotes genome
T6166 6006-6009 SO_EXT:0000694 denotes SNP
T6167 6080-6091 NCBITaxon:1 denotes individuals
T6168 6140-6151 NCBITaxon:1 denotes individuals
T6169 6170-6182 UBERON:0001016 denotes neurological
T6170 6215-6224 SO_EXT:sequence_deletion_entity_or_process denotes deletions
T6171 6239-6254 SO_EXT:coding_sequence denotes coding sequence
T6172 6265-6269 SO_EXT:0000704 denotes gene
T6173 6271-6276 PR_EXT:000009158 denotes ITPR1
T6174 6280-6285 PR_EXT:000015827 denotes SUMF1
T6175 6322-6332 NCBITaxon:1 denotes individual
T6176 6362-6370 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6177 6388-6389 CHEBI_SO_EXT:base denotes b
T6178 6405-6411 SO_EXT:0000188 denotes intron
T6179 6421-6426 PR_EXT:000009158 denotes ITPR1
T6180 6440-6441 CHEBI_SO_EXT:base denotes b
T6181 6452-6456 SO_EXT:0000147 denotes exon
T6182 6488-6498 SO_EXT:sequence_alteration_entity_or_process denotes alteration
T6183 6528-6538 GO:0010467 denotes expression
T6184 6542-6550 GO:0008380 denotes splicing
T6185 6554-6559 PR_EXT:000009158 denotes ITPR1
T6186 8970-8984 _FRAGMENT denotes breakpoints of
T6187 9005-9013 SO_EXT:0001415 denotes deletion
T6188 9122-9129 SO_EXT:sequence_deletion_process denotes deleted
T6189 9151-9160 SO_EXT:biological_sequence denotes sequences
T6190 9209-9210 CHEBI_SO_EXT:base denotes b
T6191 9218-9227 GO_SO_EXT:telomere_or_telomeric_region_or_telomeric_orientation denotes telomeric
T6192 9241-9242 CHEBI_SO_EXT:base denotes b
T6193 9250-9261 GO_SO_EXT:centromere_or_centromeric_region_or_centromeric_orientation denotes centromeric
T6194 9305-9332 SO_EXT:0000121 denotes forward orientation primers
T6195 9367-9376 GO_SO_EXT:telomere_or_telomeric_region_or_telomeric_orientation denotes telomeric
T6196 9393-9420 SO_EXT:0000132 denotes reverse orientation primers
T6197 9455-9466 GO_SO_EXT:centromere_or_centromeric_region_or_centromeric_orientation denotes centromeric
T6198 9526-9534 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6199 9573-9580 SO_EXT:0000112 denotes primers
T6200 9626-9627 CHEBI_SO_EXT:base denotes b
T6201 9674-9676 SO_EXT:0000028 denotes bp
T6202 9691-9694 CHEBI_SO_EXT:DNA denotes DNA
T6203 9794-9802 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6204 9814-9816 SO_EXT:0000028 denotes bp
T6205 9867-9872 SO_EXT:0000147 denotes exons
T6206 9876-9881 PR_EXT:000015827 denotes SUMF1
T6207 9910-9915 SO_EXT:0000147 denotes exons
T6208 9919-9924 PR_EXT:000009158 denotes ITPR1
T6209 9956-9964 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6210 10043-10057 UBERON:0001016 denotes neurologically
T6211 10096-10103 SO_EXT:0000704 denotes genetic
T6212 10104-10112 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6213 10116-10121 PR_EXT:000009158 denotes ITPR1
T6214 10198-10208 UBERON:0002037 denotes cerebellar
T6215 10282-10291 UBERON:0001016 denotes neurology
T6216 10327-10330 CHEBI_SO_EXT:DNA denotes DNA
T6217 10505-10513 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6218 10571-10576 PR_EXT:000015827 denotes SUMF1
T6219 10585-10590 PR_EXT:000009158 denotes ITPR1
T6220 10598-10607 SO_EXT:sequence_alteration_entity_or_process denotes mutations
T6221 10744-10754 SO_EXT:0001021 denotes breakpoint
T6222 10808-10816 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6223 10831-10833 SO_EXT:0000028 denotes bp
T6224 10844-10849 SO_EXT:0000147 denotes exons
T6225 10857-10862 PR_EXT:000015827 denotes SUMF1
T6226 10875-10880 PR_EXT:000009158 denotes ITPR1
T6227 10918-10926 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6228 10935-10936 CHEBI_SO_EXT:base denotes b
T6229 10967-10972 SO_EXT:0000147 denotes exons
T6230 10980-10985 PR_EXT:000015827 denotes SUMF1
T6231 10990-10995 SO_EXT:0000147 denotes exons
T6232 11004-11009 PR_EXT:000009158 denotes ITPR1
T6233 11023-11031 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6234 11109-11118 GO_SO_EXT:telomere_or_telomeric_region_or_telomeric_orientation denotes telomeric
T6235 11130-11138 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6236 11159-11164 SO_EXT:0000147 denotes exons
T6237 11176-11181 PR_EXT:000015827 denotes SUMF1
T6238 11183-11191 SO_EXT:biological_sequence denotes sequence
T6239 11224-11230 SO_EXT:sequence_repeat_unit_or_region denotes repeat
T6240 11231-11240 SO_EXT:biological_sequence denotes sequences
T6241 11288-11298 UBERON:0002037 denotes cerebellar
T6242 11329-11334 PR_EXT:000015827 denotes SUMF1
T6243 11335-11340 PR_EXT:000009158 denotes ITPR1
T6244 11341-11349 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6245 11360-11368 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6246 11479-11487 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6247 11502-11509 SO_EXT:0000704 denotes genetic
T6248 11673-11681 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6249 11685-11690 PR_EXT:000015827 denotes SUMF1
T6250 11692-11700 SO_EXT:sequence_coding_function denotes encoding
T6251 11701-11710 GO_EXT:0008484 denotes sulfatase
T6252 11701-11729 PR_EXT:000015827 denotes sulfatase modifying factor 1
T6253 11711-11720 SO_EXT:sequence_alteration_process denotes modifying
T6254 11784-11792 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6255 11796-11801 PR_EXT:000015827 denotes SUMF1
T6256 11813-11822 GO:0030849 denotes autosomal
T6257 11842-11851 GO_EXT:0008484 denotes sulfatase
T6258 11866-11875 GO:0008152 denotes metabolic
T6259 12061-12070 GO_EXT:0008484 denotes sulfatase
T6260 12095-12103 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6261 12107-12112 PR_EXT:000009158 denotes ITPR1
T6262 12116-12128 CHEBI_GO_EXT:biological_process_or_quality_or_role denotes biologically
T6263 12165-12172 CHEBI_PR_EXT:protein denotes protein
T6264 12183-12192 GO:0010467 denotes expressed
T6265 12196-12210 CL:0000121 denotes Purkinje cells
T6266 12205-12210 CL_GO_EXT:cell denotes cells
T6267 12235-12239 NCBITaxon:10088 denotes mice
T6268 12245-12253 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6269 12303-12307 CHEBI:29108 denotes Ca2+
T6270 12303-12317 GO:0019722 denotes Ca2+ signaling
T6271 12475-12482 CHEBI_PR_EXT:protein denotes protein
T6272 12493-12498 PR_EXT:000009158 denotes ITPR1
T6273 12502-12520 NCBITaxon:10376 denotes Epstein-Barr virus
T6274 12522-12525 NCBITaxon:10376 denotes EBV
T6275 12540-12551 CL:0000542 denotes lymphocytes
T6276 12666-12671 PR_EXT:000009158 denotes ITPR1
T6277 12728-12736 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6278 13326-13331 PR_EXT:000009158 denotes Itpr1
T6279 13347-13354 SO_EXT:0000417 denotes domains
T6280 13359-13369 CHEBI_SO_EXT:N_terminus_or_N_terminal_region denotes N-terminal
T6281 13370-13391 CHEBI:25450 denotes inositol triphosphate
T6282 13392-13399 CHEMINF_GO_EXT:chemical_binding_or_bond_formation denotes binding
T6283 13392-13406 SO_EXT:0100018 denotes binding domain
T6284 13419-13425 SO_EXT:0000417 denotes domain
T6285 13433-13443 CHEBI_SO_EXT:C_terminus_or_C_terminal_region denotes C-terminal
T6286 13449-13457 GO:0016020 denotes membrane
T6287 13487-13494 CHEBI_PR_EXT:protein denotes protein
T6288 13487-13503 GO_EXT:0004691 denotes protein kinase A
T6289 13504-13519 GO_PATO_EXT:phosphorylation_process denotes phosphorylation
T6290 13533-13536 CHEBI_EXT:ATP denotes ATP
T6291 13537-13544 CHEMINF_GO_EXT:chemical_binding_or_bond_formation denotes binding
T6292 13537-13549 SO_EXT:0000409 denotes binding site
T6293 13551-13556 PR_EXT:000009158 denotes Itpr1
T6294 13571-13575 CHEBI:29108 denotes Ca2+
T6295 13571-13584 GO_EXT:0005262 denotes Ca2+ channels
T6296 13601-13605 CHEBI:29108 denotes Ca2+
T6297 13606-13613 GO_EXT:biological_release denotes release
T6298 13623-13644 GO:0005783 denotes endoplasmic reticulum
T6299 13651-13658 CHEMINF_GO_EXT:chemical_binding_or_bond_formation denotes binding
T6300 13666-13679 GO:0005622 denotes intracellular
T6301 13671-13679 CL_GO_EXT:cell denotes cellular
T6302 13687-13696 CHEBI_EXT:33280 denotes messenger
T6303 13697-13724 CHEBI_EXT:1D_myo_inositol_1_4_5_trisphosphate denotes inositol 1,4,5-triphosphate
T6304 13730-13735 PR_EXT:000009158 denotes Itpr1
T6305 13755-13772 _FRAGMENT denotes Purkinje cells of
T6306 13777-13787 CL:0000121 denotes cerebellum
T6307 13764-13769 CL_GO_EXT:cell denotes cells
T6308 13777-13787 UBERON:0002037 denotes cerebellum
T6309 13793-13798 PR_EXT:000009158 denotes ITPR1
T6310 13799-13808 SO_EXT:sequence_alteration_entity_or_process denotes mutations
T6311 13920-13925 PR_EXT:000009158 denotes ITPR1
T6312 13993-14001 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6313 14037-14043 NCBITaxon:9606 denotes humans
T6314 14064-14072 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6315 14076-14080 NCBITaxon:10088 denotes mice
T6316 14160-14169 UBERON:0000104 denotes life span
T6317 14177-14182 NCBITaxon:10088 denotes mouse
T6318 14241-14251 SO_EXT:0000318 denotes start site
T6319 14256-14261 PR_EXT:000009158 denotes ITPR1
T6320 14341-14348 CHEBI_PR_EXT:protein denotes protein
T6321 14384-14389 CL_GO_EXT:cell denotes cells
T6322 14462-14470 GO:0042571 denotes antibody
T6323 14490-14500 CHEBI_SO_EXT:C_terminus_or_C_terminal_region denotes C-terminal
T6324 14512-14517 PR_EXT:000009158 denotes ITPR1
T6325 14559-14568 SO_EXT:sequence_truncation_process denotes truncated
T6326 14569-14576 CHEBI_PR_EXT:protein denotes protein
T6327 14627-14632 PR_EXT:000009158 denotes ITPR1
T6328 14633-14642 SO_EXT:sequence_alteration_entity_or_process denotes mutations
T6329 14777-14782 NCBITaxon:10088 denotes mouse
T6330 14783-14792 SO_EXT:sequence_alteration_entity_or_process denotes mutations
T6331 14810-14815 NCBITaxon:9606 denotes human
T6332 14856-14860 GO_PATO_EXT:aging_or_agedness denotes aged
T6333 14861-14866 PR_EXT:000009158 denotes Itpr1
T6334 14866-14868 SO_EXT:wild_type_entity_or_quality denotes wt
T6335 14873-14880 NCBITaxon:33208 denotes animals
T6336 14915-14919 NCBITaxon:10088 denotes mice
T6337 15006-15010 NCBITaxon:10088 denotes mice
T6338 15105-15111 SO_EXT:0001026 denotes genome
T6339 15117-15120 SO_EXT:0000694 denotes SNP
T6340 15172-15179 SO_EXT:0001026 denotes genomic
T6341 15180-15189 SO_EXT:sequence_alteration_entity_or_process denotes mutations
T6342 15301-15309 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T6343 15313-15318 PR_EXT:000009158 denotes ITPR1
T6344 15342-15350 SO_EXT:biological_sequence denotes sequence
T6345 15363-15368 PR_EXT:000009158 denotes ITPR1
T6346 15466-15474 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6347 15511-15521 SO_EXT:sequence_alteration_entity_or_process denotes mutational
T6348 15632-15637 PR_EXT:000009158 denotes ITPR1
T6349 15638-15646 SO_EXT:sequence_alteration_entity_or_process denotes mutation
T6350 15686-15690 SO_EXT:0000704 denotes gene
T6351 15746-15755 GO:0030849 denotes autosomal
T6352 15882-15887 PR_EXT:000009158 denotes ITPR1
T6353 15893-15897 SO_EXT:0000704 denotes gene
T6354 15990-16003 GO:0005622 denotes intracellular
T6355 15990-16003 _FRAGMENT denotes intracellular
T6356 16009-16018 GO:0035556 denotes signaling
T6357 15995-16003 CL_GO_EXT:cell denotes cellular
T6358 16004-16008 CHEBI:29108 denotes Ca2+
T6359 16004-16018 GO:0019722 denotes Ca2+ signaling
T6360 16022-16036 CL:0000121 denotes Purkinje cells
T6361 16031-16036 CL_GO_EXT:cell denotes cells
T6362 16060-16075 UBERON:0014643 denotes spinocerebellar
T14353 3038-3043 PR_EXT:000009158 denotes ITPR1
T14354 3044-3051 CHEBI_PR_EXT:protein denotes Protein
T14355 3062-3067 NCBITaxon:10088 denotes Mouse
T14356 3068-3078 UBERON:0002037 denotes Cerebellum
T14357 3109-3119 UBERON:0002037 denotes cerebellum
T14358 3127-3136 SO_EXT:wild_type_entity_or_quality denotes wild-type
T14359 3137-3142 NCBITaxon:10088 denotes mouse
T14360 3156-3161 NCBITaxon:10088 denotes mouse
T14361 3183-3188 PR_EXT:000009158 denotes Itpr1
T14362 3192-3194 SO_EXT:0000028 denotes bp
T14363 3195-3203 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T14364 3221-3226 NCBITaxon:10088 denotes mouse
T14365 3249-3251 SO_EXT:0000028 denotes bp
T14366 3252-3257 PR_EXT:000009158 denotes Itpr1
T14367 3258-3266 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T14368 3322-3327 PR_EXT:000009158 denotes Itpr1
T14369 3333-3339 NCBITaxon:9986 denotes rabbit
T14370 3340-3348 GO:0042571 denotes antibody
T14371 3359-3374 CHEBI:52673 denotes Alexa Fluor 555
T14372 3421-3426 PR_EXT:000004967 denotes Calb1
T14373 3432-3437 NCBITaxon:10088 denotes mouse
T14374 3438-3446 GO:0042571 denotes antibody
T14375 3457-3472 CHEBI:52661 denotes Alexa Fluor 488
T14376 3526-3531 PR_EXT:000009158 denotes Iptr1
T14377 3542-3551 GO:0010467 denotes expressed
T14378 3559-3573 CL:0000121 denotes Purkinje cells
T14379 3568-3573 CL_GO_EXT:cell denotes cells
T14380 3634-3639 PR_EXT:000009158 denotes Itpr1
T14381 3675-3681 SO_EXT:sequence_altered_entity_or_alteration_process denotes mutant
T14382 3682-3686 NCBITaxon:10088 denotes mice
T14383 3726-3731 PR_EXT:000009158 denotes Itpr1
T14384 3748-3753 UBERON:0000955 denotes brain
T14385 3759-3768 SO_EXT:wild_type_entity_or_quality denotes wild-type
T14386 3770-3775 PR_EXT:000009158 denotes Itpr1
T14387 3775-3777 SO_EXT:wild_type_entity_or_quality denotes wt
T14388 3787-3792 PR_EXT:000009158 denotes Itpr1
T14389 3800-3804 NCBITaxon:10088 denotes mice
T14390 3840-3845 PR_EXT:000009158 denotes Itpr1
T14391 3849-3854 UBERON:0000955 denotes brain
T14392 3855-3861 UBERON:0000479 denotes tissue
T14393 3867-3872 PR_EXT:000009158 denotes Itpr1
T14394 3872-3874 SO_EXT:wild_type_entity_or_quality denotes wt
T14395 3879-3883 NCBITaxon:10088 denotes mice
T14396 3911-3916 PR_EXT:000009158 denotes Itpr1
T14397 3920-3925 PR_EXT:000009158 denotes Itpr1
T14398 3933-3937 NCBITaxon:10088 denotes mice
T15045 6604-6607 CHEBI_SO_EXT:DNA denotes DNA
T15046 6739-6745 SO_EXT:0001023 denotes allele
T15047 6783-6784 CHEBI_SO_EXT:base denotes b
T15048 6802-6819 SO_EXT:0000105 denotes arm of Chromosome
T15049 6809-6819 GO_SO_EXT:chromosome denotes Chromosome
T15050 6897-6900 SO_EXT:0000694 denotes SNP
T15051 6907-6910 SO_EXT:0000694 denotes SNP
T15052 6960-6964 SO_EXT:sequence_copy_entity denotes copy
T15053 6989-6995 SO_EXT:0001023 denotes allele
T15054 7053-7060 SO_EXT:0001023 denotes alleles
T15055 7094-7097 SO_EXT:0000694 denotes SNP
T15056 7131-7135 SO_EXT:0000694 denotes SNPs
T15057 7145-7151 SO_EXT:0001023 denotes allele
T15058 7199-7203 SO_EXT:0000694 denotes SNPs
T15059 7213-7219 SO_EXT:0001023 denotes allele
T15060 7288-7294 SO_EXT:0001023 denotes allele
T15061 7395-7396 CHEBI_SO_EXT:base denotes b
T15062 7417-7421 SO_EXT:sequence_copy_entity denotes copy
T15063 7552-7559 SO_EXT:0001026 denotes genomic
T15064 7560-7568 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T15065 7625-7630 SO_EXT:0000704 denotes genes
T15066 7648-7656 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T15067 7658-7663 PR_EXT:000009158 denotes ITPR1
T15068 7668-7673 PR_EXT:000015827 denotes SUMF1
T15754 7685-7693 SO_EXT:sequence_alteration_entity_or_process denotes Mutation
T15755 7792-7803 NCBITaxon:1 denotes individuals
T15756 7830-7841 NCBITaxon:1 denotes individuals
T15757 7930-7931 SO_EXT:wild_type_entity_or_quality denotes w
T15758 7932-7933 SO_EXT:wild_type_entity_or_quality denotes w
T15759 7935-7944 SO_EXT:wild_type_entity_or_quality denotes wild-type
T15760 7948-7953 PR_EXT:000009158 denotes ITPR1
T15761 7955-7956 SO_EXT:wild_type_entity_or_quality denotes w
T15762 7957-7958 SO_EXT:sequence_altered_entity_or_alteration_process denotes m
T15763 7988-7993 PR_EXT:000009158 denotes ITPR1
T15764 7994-8002 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T15765 8026-8032 SO_EXT:0000112 denotes primer
T15766 8088-8095 SO_EXT:sequence_deletion_process denotes deleted
T15767 8096-8104 SO_EXT:biological_sequence denotes sequence
T15768 8123-8131 SO_EXT:biological_sequence denotes sequence
T15769 8157-8163 SO_EXT:0000112 denotes primer
T15770 8225-8234 GO_SO_EXT:telomere_or_telomeric_region_or_telomeric_orientation denotes telomeric
T15771 8248-8255 SO_EXT:sequence_deletion_process denotes deleted
T15772 8267-8273 SO_EXT:0000112 denotes primer
T15773 8336-8347 GO_SO_EXT:centromere_or_centromeric_region_or_centromeric_orientation denotes centromeric
T15774 8361-8368 SO_EXT:sequence_deletion_process denotes deleted
T15775 8528-8534 SO_EXT:0000112 denotes primer
T15776 8570-8589 SO_EXT:0001415 denotes deletion breakpoint
T15777 8656-8658 SO_EXT:0000028 denotes bp
T15778 8671-8682 NCBITaxon:1 denotes individuals
T15779 8733-8739 SO_EXT:0000112 denotes primer
T15780 8870-8884 UBERON:0001016 denotes neurologically
T16231 12784-12789 PR_EXT:000009158 denotes ITPR1
T16232 12790-12797 CHEBI_PR_EXT:protein denotes Protein
T16233 12808-12811 NCBITaxon:10376 denotes EBV
T16234 12897-12902 PR_EXT:000009158 denotes ITPR1
T16235 12913-12916 NCBITaxon:10376 denotes EBV
T16236 12930-12941 CL:0000542 denotes lymphocytes
T16237 12989-12994 PR_EXT:000009158 denotes ITPR1
T16238 12995-13003 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T16239 13084-13092 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T16240 13133-13138 PR_EXT:000009158 denotes ITPR1
T16241 13139-13147 SO_EXT:sequence_deletion_entity_or_process denotes deletion
T16242 13176-13181 PR_EXT:000009158 denotes ITPR1
T16243 13303-13311 GO:0042571 denotes antibody
T16244 13320-13324 PR_EXT:000003676 denotes ACTB
T6118 4189-4198 GO:0030849 denotes autosomal
R402 T6153 T6152 _lexicallyChainedTo regions,flanking
R403 T6156 T6155 _lexicallyChainedTo deletion,borders of
R404 T6187 T6186 _lexicallyChainedTo deletion,breakpoints of
R405 T6306 T6305 _lexicallyChainedTo cerebellum,Purkinje cells of
R407 T6356 T6355 _lexicallyChainedTo signaling,intracellular

craft-ca-core-dev

Below, discontinuous spans are shown in the chain model. You can change it to the bag model.

Id Subject Object Predicate Lexical cue
T5803 54-58 NCBITaxon:10088 denotes mice
T5804 80-84 SO:0000704 denotes gene
T5805 85-90 PR:000012286 denotes Park7
T5806 163-179 SO:0001644 denotes targeting vector
T5807 242-246 NCBITaxon:10088 denotes mice
T5808 322-327 GO:0050975 denotes touch
T5809 385-393 UBERON:0005434 denotes cervical
T5810 466-471 NCBITaxon:9606 denotes human
T5811 568-580 GO:0050879 denotes kinesiogenic
T5812 637-640 CHEBI:24870 denotes ion
T5813 684-688 NCBITaxon:10088 denotes mice
T5814 720-725 GO:0007567 denotes natal
T5815 879-888 GO:0030849 denotes autosomal
T5816 971-977 SO:0001026 denotes genome
T5817 1022-1053 SO:0000694 denotes single nucleotide polymorphisms
T5818 1055-1059 SO:0000694 denotes SNPs
T5819 1084-1089 NCBITaxon:10088 denotes mouse
T5820 1090-1096 SO:0001026 denotes genome
T5821 1137-1144 SO:0001026 denotes genomic
T5822 1285-1294 SO:0001024 denotes haplotype
T5823 1469-1474 NCBITaxon:10088 denotes mouse
T5824 1561-1568 SO:0000704 denotes genetic
T5825 1618-1626 SO:0001817 denotes in-frame
T5826 1639-1644 SO:0000147 denotes exons
T5827 1662-1666 SO:0000704 denotes gene
T5828 1667-1672 PR:000009158 denotes Itpr1
T5829 1674-1679 PR:000009158 denotes Itpr1
T5830 1699-1737 PR:000009158 denotes inositol 1,4,5-triphosphate receptor 1
T5831 1739-1744 PR:000009158 denotes Itpr1
T5832 1765-1770 SO:0000147 denotes exons
T5833 1775-1797 SO:0001421 denotes intron–exon boundaries
T5834 1801-1806 PR:000009158 denotes Itpr1
T5835 1819-1823 NCBITaxon:10088 denotes mice
T5836 1881-1886 PR:000009158 denotes Itpr1
T5837 1896-1904 SO:0001817 denotes in-frame
T5838 1920-1922 SO:0000028 denotes bp
T5839 1930-1934 SO:0000147 denotes exon
T5840 1939-1944 PR:000009158 denotes Itpr1
T5841 2024-2028 NCBITaxon:10088 denotes mice
T5842 2053-2058 PR:000009158 denotes Itpr1
T5843 2071-2075 NCBITaxon:10088 denotes mice
T5844 2111-2116 PR:000009158 denotes Itpr1
T5845 2157-2161 NCBITaxon:10088 denotes mice
T5846 2192-2197 PR:000009158 denotes Itpr1
T5847 2283-2288 PR:000009158 denotes Itpr1
T5848 2300-2305 PR:000009158 denotes Itpr1
T5849 2314-2318 NCBITaxon:10088 denotes mice
T5850 2410-2415 NCBITaxon:10088 denotes mouse
T5851 2447-2452 PR:000009158 denotes Itpr1
T5852 2521-2526 PR:000009158 denotes Itpr1
T5853 2535-2539 NCBITaxon:10088 denotes mice
T5854 2563-2568 SO:0000147 denotes exons
T5855 2610-2623 GO:0006412 denotes translational
T5856 2624-2637 SO:0000717 denotes reading frame
T5857 2654-2662 SO:0001817 denotes in-frame
T5858 2663-2668 PR:000009158 denotes Itpr1
T5859 2734-2739 PR:000009158 denotes Itpr1
T5860 2743-2753 UBERON:0002037 denotes cerebellar
T5861 2743-2768 CL:0000121 denotes cerebellar Purkinje cells
T5862 2818-2823 PR:000009158 denotes Itpr1
T5863 2834-2839 NCBITaxon:10088 denotes mouse
T5864 2857-2861 SO:0000704 denotes gene
T5865 2883-2888 PR:000009158 denotes Itpr1
T5866 2889-2899 GO:0010467 denotes expression
T5867 2928-2937 GO:0030849 denotes autosomal
T5868 3961-3966 NCBITaxon:9606 denotes human
T5869 3967-3979 UBERON:0001016 denotes neurological
T5870 4022-4027 NCBITaxon:9606 denotes human
T5871 4080-4095 SO:0005858 denotes syntenic region
T5872 4103-4108 NCBITaxon:9606 denotes human
T5873 4109-4115 SO:0001026 denotes genome
T5874 4177-4182 UBERON:0007023 denotes adult
T5875 4189-4198 GO:0030849 denotes autosomal
T5876 4286-4291 PR:000009158 denotes ITPR1
T5877 4393-4398 PR:000009158 denotes Itpr1
T5878 4406-4411 PR:000009158 denotes Itpr1
T5879 4415-4419 NCBITaxon:10088 denotes mice
T5880 4462-4466 NCBITaxon:10088 denotes mice
T5881 4502-4506 SO:0000704 denotes gene
T5882 4549-4556 SO:0001026 denotes genomic
T5883 4866-4878 SO:0000195 denotes coding exons
T5884 4882-4887 PR:000009158 denotes ITPR1
T5885 4905-4911 SO:0001026 denotes genome
T5886 4917-4920 SO:0000694 denotes SNP
T5887 5158-5164 SO:0001023 denotes allele
T5888 5192-5198 SO:0001026 denotes genome
T5889 5204-5207 SO:0000694 denotes SNP
T5890 5282-5289 SO:0001026 denotes genomic
T5891 5329-5334 PR:000009158 denotes ITPR1
T5892 5378-5382 SO:0000704 denotes gene
T5893 5384-5389 PR:000015827 denotes SUMF1
T5894 5554-5557 SO:0000694 denotes SNP
T5895 5634-5638 SO:0000694 denotes SNPs
T5896 5646-5654 _FRAGMENT denotes flanking
T5897 5663-5670 SO:0000239 denotes regions
T5898 5714-5724 _FRAGMENT denotes borders of
T5899 5729-5737 SO:0000687 denotes deletion
T5900 5994-6000 SO:0001026 denotes genome
T5901 6006-6009 SO:0000694 denotes SNP
T5902 6080-6091 NCBITaxon:1 denotes individuals
T5903 6140-6151 NCBITaxon:1 denotes individuals
T5904 6170-6182 UBERON:0001016 denotes neurological
T5905 6265-6269 SO:0000704 denotes gene
T5906 6271-6276 PR:000009158 denotes ITPR1
T5907 6280-6285 PR:000015827 denotes SUMF1
T5908 6322-6332 NCBITaxon:1 denotes individual
T5909 6405-6411 SO:0000188 denotes intron
T5910 6421-6426 PR:000009158 denotes ITPR1
T5911 6452-6456 SO:0000147 denotes exon
T5912 6528-6538 GO:0010467 denotes expression
T5913 6542-6550 GO:0008380 denotes splicing
T5914 6554-6559 PR:000009158 denotes ITPR1
T5915 8970-8984 _FRAGMENT denotes breakpoints of
T5916 9005-9013 SO:0001415 denotes deletion
T5917 9305-9332 SO:0000121 denotes forward orientation primers
T5918 9393-9420 SO:0000132 denotes reverse orientation primers
T5919 9573-9580 SO:0000112 denotes primers
T5920 9674-9676 SO:0000028 denotes bp
T5921 9814-9816 SO:0000028 denotes bp
T5922 9867-9872 SO:0000147 denotes exons
T5923 9876-9881 PR:000015827 denotes SUMF1
T5924 9910-9915 SO:0000147 denotes exons
T5925 9919-9924 PR:000009158 denotes ITPR1
T5926 10043-10057 UBERON:0001016 denotes neurologically
T5927 10096-10103 SO:0000704 denotes genetic
T5928 10116-10121 PR:000009158 denotes ITPR1
T5929 10198-10208 UBERON:0002037 denotes cerebellar
T5930 10282-10291 UBERON:0001016 denotes neurology
T5931 10571-10576 PR:000015827 denotes SUMF1
T5932 10585-10590 PR:000009158 denotes ITPR1
T5933 10744-10754 SO:0001021 denotes breakpoint
T5934 10831-10833 SO:0000028 denotes bp
T5935 10844-10849 SO:0000147 denotes exons
T5936 10857-10862 PR:000015827 denotes SUMF1
T5937 10875-10880 PR:000009158 denotes ITPR1
T5938 10967-10972 SO:0000147 denotes exons
T5939 10980-10985 PR:000015827 denotes SUMF1
T5940 10990-10995 SO:0000147 denotes exons
T5941 11004-11009 PR:000009158 denotes ITPR1
T5942 11159-11164 SO:0000147 denotes exons
T5943 11176-11181 PR:000015827 denotes SUMF1
T5944 11288-11298 UBERON:0002037 denotes cerebellar
T5945 11329-11334 PR:000015827 denotes SUMF1
T5946 11335-11340 PR:000009158 denotes ITPR1
T5947 11502-11509 SO:0000704 denotes genetic
T5948 11685-11690 PR:000015827 denotes SUMF1
T5949 11701-11729 PR:000015827 denotes sulfatase modifying factor 1
T5950 11796-11801 PR:000015827 denotes SUMF1
T5951 11813-11822 GO:0030849 denotes autosomal
T5952 11866-11875 GO:0008152 denotes metabolic
T5953 12107-12112 PR:000009158 denotes ITPR1
T5954 12183-12192 GO:0010467 denotes expressed
T5955 12196-12210 CL:0000121 denotes Purkinje cells
T5956 12235-12239 NCBITaxon:10088 denotes mice
T5957 12303-12307 CHEBI:29108 denotes Ca2+
T5958 12303-12317 GO:0019722 denotes Ca2+ signaling
T5959 12493-12498 PR:000009158 denotes ITPR1
T5960 12502-12520 NCBITaxon:10376 denotes Epstein-Barr virus
T5961 12522-12525 NCBITaxon:10376 denotes EBV
T5962 12540-12551 CL:0000542 denotes lymphocytes
T5963 12666-12671 PR:000009158 denotes ITPR1
T5964 13326-13331 PR:000009158 denotes Itpr1
T5965 13347-13354 SO:0000417 denotes domains
T5966 13370-13391 CHEBI:25450 denotes inositol triphosphate
T5967 13392-13406 SO:0100018 denotes binding domain
T5968 13419-13425 SO:0000417 denotes domain
T5969 13449-13457 GO:0016020 denotes membrane
T5970 13537-13549 SO:0000409 denotes binding site
T5971 13551-13556 PR:000009158 denotes Itpr1
T5972 13571-13575 CHEBI:29108 denotes Ca2+
T5973 13601-13605 CHEBI:29108 denotes Ca2+
T5974 13623-13644 GO:0005783 denotes endoplasmic reticulum
T5975 13666-13679 GO:0005622 denotes intracellular
T5976 13687-13696 CHEBI:33280 denotes messenger
T5977 13730-13735 PR:000009158 denotes Itpr1
T5978 13755-13772 _FRAGMENT denotes Purkinje cells of
T5979 13777-13787 CL:0000121 denotes cerebellum
T5980 13777-13787 UBERON:0002037 denotes cerebellum
T5981 13793-13798 PR:000009158 denotes ITPR1
T5982 13920-13925 PR:000009158 denotes ITPR1
T5983 14037-14043 NCBITaxon:9606 denotes humans
T5984 14076-14080 NCBITaxon:10088 denotes mice
T5985 14160-14169 UBERON:0000104 denotes life span
T5986 14177-14182 NCBITaxon:10088 denotes mouse
T5987 14241-14251 SO:0000318 denotes start site
T5988 14256-14261 PR:000009158 denotes ITPR1
T5989 14462-14470 GO:0042571 denotes antibody
T5990 14512-14517 PR:000009158 denotes ITPR1
T5991 14627-14632 PR:000009158 denotes ITPR1
T5992 14777-14782 NCBITaxon:10088 denotes mouse
T5993 14810-14815 NCBITaxon:9606 denotes human
T5994 14861-14866 PR:000009158 denotes Itpr1
T5995 14873-14880 NCBITaxon:33208 denotes animals
T5996 14915-14919 NCBITaxon:10088 denotes mice
T5997 15006-15010 NCBITaxon:10088 denotes mice
T5998 15105-15111 SO:0001026 denotes genome
T5999 15117-15120 SO:0000694 denotes SNP
T6000 15172-15179 SO:0001026 denotes genomic
T6001 15313-15318 PR:000009158 denotes ITPR1
T6002 15363-15368 PR:000009158 denotes ITPR1
T6003 15632-15637 PR:000009158 denotes ITPR1
T6004 15686-15690 SO:0000704 denotes gene
T6005 15746-15755 GO:0030849 denotes autosomal
T6006 15882-15887 PR:000009158 denotes ITPR1
T6007 15893-15897 SO:0000704 denotes gene
T6008 15990-16003 GO:0005622 denotes intracellular
T6009 15990-16003 _FRAGMENT denotes intracellular
T6010 16009-16018 GO:0035556 denotes signaling
T6011 16004-16008 CHEBI:29108 denotes Ca2+
T6012 16004-16018 GO:0019722 denotes Ca2+ signaling
T6013 16022-16036 CL:0000121 denotes Purkinje cells
T6014 16060-16075 UBERON:0014643 denotes spinocerebellar
T14316 3038-3043 PR:000009158 denotes ITPR1
T14317 3062-3067 NCBITaxon:10088 denotes Mouse
T14318 3068-3078 UBERON:0002037 denotes Cerebellum
T14319 3109-3119 UBERON:0002037 denotes cerebellum
T14320 3137-3142 NCBITaxon:10088 denotes mouse
T14321 3156-3161 NCBITaxon:10088 denotes mouse
T14322 3183-3188 PR:000009158 denotes Itpr1
T14323 3192-3194 SO:0000028 denotes bp
T14324 3221-3226 NCBITaxon:10088 denotes mouse
T14325 3249-3251 SO:0000028 denotes bp
T14326 3252-3257 PR:000009158 denotes Itpr1
T14327 3322-3327 PR:000009158 denotes Itpr1
T14328 3333-3339 NCBITaxon:9986 denotes rabbit
T14329 3340-3348 GO:0042571 denotes antibody
T14330 3359-3374 CHEBI:52673 denotes Alexa Fluor 555
T14331 3421-3426 PR:000004967 denotes Calb1
T14332 3432-3437 NCBITaxon:10088 denotes mouse
T14333 3438-3446 GO:0042571 denotes antibody
T14334 3457-3472 CHEBI:52661 denotes Alexa Fluor 488
T14335 3526-3531 PR:000009158 denotes Iptr1
T14336 3542-3551 GO:0010467 denotes expressed
T14337 3559-3573 CL:0000121 denotes Purkinje cells
T14338 3634-3639 PR:000009158 denotes Itpr1
T14339 3682-3686 NCBITaxon:10088 denotes mice
T14340 3726-3731 PR:000009158 denotes Itpr1
T14341 3748-3753 UBERON:0000955 denotes brain
T14342 3770-3775 PR:000009158 denotes Itpr1
T14343 3787-3792 PR:000009158 denotes Itpr1
T14344 3800-3804 NCBITaxon:10088 denotes mice
T14345 3840-3845 PR:000009158 denotes Itpr1
T14346 3849-3854 UBERON:0000955 denotes brain
T14347 3855-3861 UBERON:0000479 denotes tissue
T14348 3867-3872 PR:000009158 denotes Itpr1
T14349 3879-3883 NCBITaxon:10088 denotes mice
T14350 3911-3916 PR:000009158 denotes Itpr1
T14351 3920-3925 PR:000009158 denotes Itpr1
T14352 3933-3937 NCBITaxon:10088 denotes mice
T15029 6739-6745 SO:0001023 denotes allele
T15030 6802-6819 SO:0000105 denotes arm of Chromosome
T15031 6897-6900 SO:0000694 denotes SNP
T15032 6907-6910 SO:0000694 denotes SNP
T15033 6989-6995 SO:0001023 denotes allele
T15034 7053-7060 SO:0001023 denotes alleles
T15035 7094-7097 SO:0000694 denotes SNP
T15036 7131-7135 SO:0000694 denotes SNPs
T15037 7145-7151 SO:0001023 denotes allele
T15038 7199-7203 SO:0000694 denotes SNPs
T15039 7213-7219 SO:0001023 denotes allele
T15040 7288-7294 SO:0001023 denotes allele
T15041 7552-7559 SO:0001026 denotes genomic
T15042 7625-7630 SO:0000704 denotes genes
T15043 7658-7663 PR:000009158 denotes ITPR1
T15044 7668-7673 PR:000015827 denotes SUMF1
T15741 7792-7803 NCBITaxon:1 denotes individuals
T15742 7830-7841 NCBITaxon:1 denotes individuals
T15743 7948-7953 PR:000009158 denotes ITPR1
T15744 7988-7993 PR:000009158 denotes ITPR1
T15745 8026-8032 SO:0000112 denotes primer
T15746 8157-8163 SO:0000112 denotes primer
T15747 8267-8273 SO:0000112 denotes primer
T15748 8528-8534 SO:0000112 denotes primer
T15749 8570-8589 SO:0001415 denotes deletion breakpoint
T15750 8656-8658 SO:0000028 denotes bp
T15751 8671-8682 NCBITaxon:1 denotes individuals
T15752 8733-8739 SO:0000112 denotes primer
T15753 8870-8884 UBERON:0001016 denotes neurologically
T16221 12784-12789 PR:000009158 denotes ITPR1
T16222 12808-12811 NCBITaxon:10376 denotes EBV
T16223 12897-12902 PR:000009158 denotes ITPR1
T16224 12913-12916 NCBITaxon:10376 denotes EBV
T16225 12930-12941 CL:0000542 denotes lymphocytes
T16226 12989-12994 PR:000009158 denotes ITPR1
T16227 13133-13138 PR:000009158 denotes ITPR1
T16228 13176-13181 PR:000009158 denotes ITPR1
T16229 13303-13311 GO:0042571 denotes antibody
T16230 13320-13324 PR:000003676 denotes ACTB
R397 T5897 T5896 _lexicallyChainedTo regions,flanking
R398 T5916 T5915 _lexicallyChainedTo deletion,breakpoints of
R399 T5899 T5898 _lexicallyChainedTo deletion,borders of
R400 T6010 T6009 _lexicallyChainedTo signaling,intracellular
R401 T5979 T5978 _lexicallyChainedTo cerebellum,Purkinje cells of

craft-sa-dev

Id Subject Object Predicate Lexical cue
T6543 1090-1096 NN denotes genome
T6544 1084-1089 NN denotes mouse
T6436 464-465 DT denotes a
T6363 19-25 IN denotes During
T6364 94-99 VBD denotes noted
T6365 26-29 DT denotes the
T6366 30-40 NN denotes generation
T6367 41-43 IN denotes of
T6368 44-45 DT denotes a
T6369 46-50 NN denotes line
T6370 51-53 IN denotes of
T6371 54-58 NNS denotes mice
T6372 59-63 IN denotes with
T6373 64-72 NN denotes knockout
T6374 73-75 IN denotes of
T6375 76-79 DT denotes the
T6376 80-84 NN denotes gene
T6377 85-90 NN denotes Park7
T6378 91-93 PRP denotes we
T6379 100-102 DT denotes an
T6380 118-126 NN denotes disorder
T6381 103-108 JJ denotes early
T6382 109-117 NN denotes movement
T6383 127-131 WDT denotes that
T6384 136-145 VBN denotes inherited
T6385 132-135 VBD denotes was
T6386 146-159 RB denotes independently
T6387 160-162 IN denotes of
T6388 163-172 NN denotes targeting
T6389 173-179 NN denotes vector
T6390 180-192 NN denotes transmission
T6391 192-193 . denotes .
T6392 193-328 sentence denotes Our initial observations suggested the affected mice suffered from an apparently paroxysmal movement disorder, often induced by touch.
T6393 194-197 PRP$ denotes Our
T6394 206-218 NNS denotes observations
T6395 198-205 JJ denotes initial
T6396 219-228 VBD denotes suggested
T6397 229-232 DT denotes the
T6398 242-246 NNS denotes mice
T6399 233-241 VBN denotes affected
T6400 247-255 VBD denotes suffered
T6401 256-260 IN denotes from
T6402 261-263 DT denotes an
T6403 295-303 NN denotes disorder
T6404 264-274 RB denotes apparently
T6405 275-285 JJ denotes paroxysmal
T6406 286-294 NN denotes movement
T6407 303-305 , denotes ,
T6408 305-310 RB denotes often
T6409 311-318 VBN denotes induced
T6410 319-321 IN denotes by
T6411 322-327 NN denotes touch
T6412 327-328 . denotes .
T6413 328-439 sentence denotes The abnormal movements occurred predominantly below the cervical level, and the disorder appeared progressive.
T6414 329-332 DT denotes The
T6415 342-351 NNS denotes movements
T6416 333-341 JJ denotes abnormal
T6417 352-360 VBD denotes occurred
T6418 361-374 RB denotes predominantly
T6419 375-380 IN denotes below
T6420 381-384 DT denotes the
T6421 394-399 NN denotes level
T6422 385-393 JJ denotes cervical
T6423 399-401 , denotes ,
T6424 401-404 CC denotes and
T6425 405-408 DT denotes the
T6426 409-417 NN denotes disorder
T6427 418-426 VBD denotes appeared
T6428 427-438 JJ denotes progressive
T6429 438-439 . denotes .
T6430 439-674 sentence denotes At initial examination, a human movement disorder specialist (K. G.-H.) likened the disorder to episodic intermittent ataxia or kinesiogenic paroxysmal dystonia and predicted the involvement of an ion channel mutation in the etiology.
T6431 440-442 IN denotes At
T6432 512-519 VBD denotes likened
T6433 443-450 JJ denotes initial
T6434 451-462 NN denotes examination
T6435 462-464 , denotes ,
T6437 490-500 NN denotes specialist
T6438 466-471 JJ denotes human
T6439 481-489 NN denotes disorder
T6440 472-480 NN denotes movement
T6441 501-502 -LRB- denotes (
T6442 508-510 NNP denotes H.
T6443 502-504 NNP denotes K.
T6444 505-507 NNP denotes G.
T6445 507-508 HYPH denotes -
T6446 510-511 -RRB- denotes )
T6447 520-523 DT denotes the
T6448 524-532 NN denotes disorder
T6449 533-535 IN denotes to
T6450 536-544 JJ denotes episodic
T6451 558-564 NN denotes ataxia
T6452 545-557 JJ denotes intermittent
T6453 565-567 CC denotes or
T6454 568-580 JJ denotes kinesiogenic
T6455 592-600 NN denotes dystonia
T6456 581-591 JJ denotes paroxysmal
T6457 601-604 CC denotes and
T6458 605-614 VBD denotes predicted
T6459 615-618 DT denotes the
T6460 619-630 NN denotes involvement
T6461 631-633 IN denotes of
T6462 634-636 DT denotes an
T6463 649-657 NN denotes mutation
T6464 637-640 NN denotes ion
T6465 641-648 NN denotes channel
T6466 658-660 IN denotes in
T6467 661-664 DT denotes the
T6468 665-673 NN denotes etiology
T6469 673-674 . denotes .
T6470 674-800 sentence denotes Affected mice presented at approximately postnatal day 14, and survival time without weaning was on average 4 wk after onset.
T6471 675-683 VBN denotes Affected
T6472 684-688 NNS denotes mice
T6473 689-698 VBD denotes presented
T6474 699-701 IN denotes at
T6475 702-715 RB denotes approximately
T6476 726-729 NN denotes day
T6477 716-725 JJ denotes postnatal
T6478 730-732 CD denotes 14
T6479 732-734 , denotes ,
T6480 734-737 CC denotes and
T6481 738-746 NN denotes survival
T6482 747-751 NN denotes time
T6483 768-771 VBD denotes was
T6484 752-759 IN denotes without
T6485 760-767 NN denotes weaning
T6486 772-774 IN denotes on
T6487 775-782 JJ denotes average
T6488 783-784 CD denotes 4
T6489 785-787 NN denotes wk
T6490 788-793 IN denotes after
T6491 794-799 NN denotes onset
T6492 799-800 . denotes .
T6493 800-906 sentence denotes Breeding experiments suggested that the observed disorder was inherited in an autosomal recessive manner.
T6494 801-809 NN denotes Breeding
T6495 810-821 NNS denotes experiments
T6496 822-831 VBD denotes suggested
T6497 832-836 IN denotes that
T6498 863-872 VBN denotes inherited
T6499 837-840 DT denotes the
T6500 850-858 NN denotes disorder
T6501 841-849 VBN denotes observed
T6502 859-862 VBD denotes was
T6503 873-875 IN denotes in
T6504 876-878 DT denotes an
T6505 899-905 NN denotes manner
T6506 879-888 JJ denotes autosomal
T6507 889-898 JJ denotes recessive
T6508 905-906 . denotes .
T6509 906-1097 sentence denotes To map the location of the disease-causing lesion, we performed genome-wide linkage analysis using strain-specific single nucleotide polymorphisms (SNPs) at 120 loci across the mouse genome.
T6510 907-909 TO denotes To
T6511 910-913 VB denotes map
T6512 961-970 VBD denotes performed
T6513 914-917 DT denotes the
T6514 918-926 NN denotes location
T6515 927-929 IN denotes of
T6516 930-933 DT denotes the
T6517 950-956 NN denotes lesion
T6518 934-941 NN denotes disease
T6519 942-949 VBG denotes causing
T6520 941-942 HYPH denotes -
T6521 956-958 , denotes ,
T6522 958-960 PRP denotes we
T6523 971-977 NN denotes genome
T6524 978-982 JJ denotes wide
T6525 977-978 HYPH denotes -
T6526 991-999 NN denotes analysis
T6527 983-990 NN denotes linkage
T6528 1000-1005 VBG denotes using
T6529 1006-1012 NN denotes strain
T6530 1013-1021 JJ denotes specific
T6531 1012-1013 HYPH denotes -
T6532 1040-1053 NNS denotes polymorphisms
T6533 1022-1028 JJ denotes single
T6534 1029-1039 NN denotes nucleotide
T6535 1054-1055 -LRB- denotes (
T6536 1055-1059 NNS denotes SNPs
T6537 1059-1060 -RRB- denotes )
T6538 1061-1063 IN denotes at
T6539 1064-1067 CD denotes 120
T6540 1068-1072 NNS denotes loci
T6541 1073-1079 IN denotes across
T6542 1080-1083 DT denotes the
T6545 1096-1097 . denotes .
T6546 1097-1273 sentence denotes Analysis of these data showed a single genomic region with significant linkage to disease, providing a two-point LOD score of 5.13 at marker 20.MMHAP85FLG2 on Chromosome 6qE1.
T6547 1098-1106 NN denotes Analysis
T6548 1121-1127 VBD denotes showed
T6549 1107-1109 IN denotes of
T6550 1110-1115 DT denotes these
T6551 1116-1120 NNS denotes data
T6552 1128-1129 DT denotes a
T6553 1145-1151 NN denotes region
T6554 1130-1136 JJ denotes single
T6555 1137-1144 JJ denotes genomic
T6556 1152-1156 IN denotes with
T6557 1157-1168 JJ denotes significant
T6558 1169-1176 NN denotes linkage
T6559 1177-1179 IN denotes to
T6560 1180-1187 NN denotes disease
T6561 1187-1189 , denotes ,
T6562 1189-1198 VBG denotes providing
T6563 1199-1200 DT denotes a
T6564 1215-1220 NN denotes score
T6565 1201-1204 CD denotes two
T6566 1205-1210 NN denotes point
T6567 1204-1205 HYPH denotes -
T6568 1211-1214 NN denotes LOD
T6569 1221-1223 IN denotes of
T6570 1224-1228 CD denotes 5.13
T6571 1229-1231 IN denotes at
T6572 1232-1238 NN denotes marker
T6573 1239-1253 NN denotes 20.MMHAP85FLG2
T6574 1254-1256 IN denotes on
T6575 1257-1267 NN denotes Chromosome
T6576 1268-1272 NN denotes 6qE1
T6577 1272-1273 . denotes .
T6578 1273-1371 sentence denotes The linked haplotype suggested the mutation had occurred on the 129x1/SvJ background (Figure S1).
T6579 1274-1277 DT denotes The
T6580 1285-1294 NN denotes haplotype
T6581 1278-1284 VBN denotes linked
T6582 1295-1304 VBD denotes suggested
T6583 1305-1308 DT denotes the
T6584 1309-1317 NN denotes mutation
T6585 1322-1330 VBN denotes occurred
T6586 1318-1321 VBD denotes had
T6587 1331-1333 IN denotes on
T6588 1334-1337 DT denotes the
T6589 1348-1358 NN denotes background
T6590 1338-1343 NN denotes 129x1
T6591 1344-1347 NN denotes SvJ
T6592 1343-1344 HYPH denotes /
T6593 1359-1360 -LRB- denotes (
T6594 1367-1369 NN denotes S1
T6595 1360-1366 NN denotes Figure
T6596 1369-1370 -RRB- denotes )
T6597 1370-1371 . denotes .
T6598 1371-1545 sentence denotes Literature searches revealed that among disease lines mapped to 6qE1, the spontaneous mutant opt mouse displays a strikingly similar presentation to that described here [1].
T6599 1372-1382 NN denotes Literature
T6600 1383-1391 NNS denotes searches
T6601 1392-1400 VBD denotes revealed
T6602 1401-1405 IN denotes that
T6603 1475-1483 VBZ denotes displays
T6604 1406-1411 IN denotes among
T6605 1412-1419 NN denotes disease
T6606 1420-1425 NNS denotes lines
T6607 1426-1432 VBN denotes mapped
T6608 1433-1435 IN denotes to
T6609 1436-1440 NN denotes 6qE1
T6610 1440-1442 , denotes ,
T6611 1442-1445 DT denotes the
T6612 1458-1464 NN denotes mutant
T6613 1446-1457 JJ denotes spontaneous
T6614 1465-1468 NN denotes opt
T6615 1469-1474 NN denotes mouse
T6616 1484-1485 DT denotes a
T6617 1505-1517 NN denotes presentation
T6618 1486-1496 RB denotes strikingly
T6619 1497-1504 JJ denotes similar
T6620 1518-1520 IN denotes to
T6621 1521-1525 DT denotes that
T6622 1526-1535 VBN denotes described
T6623 1536-1540 RB denotes here
T6624 1541-1542 -LRB- denotes [
T6625 1542-1543 CD denotes 1
T6626 1543-1544 -RRB- denotes ]
T6627 1544-1545 . denotes .
T6628 1545-1746 sentence denotes The underlying genetic lesion causing the opt phenotype is a homozygous in-frame deletion of exons 43 and 44 of the gene Itpr1 (Itpr1opt /opt), encoding inositol 1,4,5-triphosphate receptor 1 (Itpr1).
T6629 1546-1549 DT denotes The
T6630 1569-1575 NN denotes lesion
T6631 1550-1560 VBG denotes underlying
T6632 1561-1568 JJ denotes genetic
T6633 1602-1604 VBZ denotes is
T6634 1576-1583 VBG denotes causing
T6635 1584-1587 DT denotes the
T6636 1592-1601 NN denotes phenotype
T6637 1588-1591 NN denotes opt
T6638 1605-1606 DT denotes a
T6639 1627-1635 NN denotes deletion
T6640 1607-1617 JJ denotes homozygous
T6641 1618-1620 IN denotes in
T6642 1621-1626 NN denotes frame
T6643 1620-1621 HYPH denotes -
T6644 1636-1638 IN denotes of
T6645 1639-1644 NNS denotes exons
T6646 1645-1647 CD denotes 43
T6647 1648-1651 CC denotes and
T6648 1652-1654 CD denotes 44
T6649 1655-1657 IN denotes of
T6650 1658-1661 DT denotes the
T6651 1667-1672 NN denotes Itpr1
T6652 1662-1666 NN denotes gene
T6653 1673-1674 -LRB- denotes (
T6654 1684-1687 NN denotes opt
T6655 1674-1682 NN denotes Itpr1opt
T6656 1683-1684 HYPH denotes /
T6657 1687-1688 -RRB- denotes )
T6658 1688-1690 , denotes ,
T6659 1690-1698 VBG denotes encoding
T6660 1699-1707 NN denotes inositol
T6661 1727-1735 NN denotes receptor
T6662 1708-1709 CD denotes 1
T6663 1712-1713 CD denotes 5
T6664 1709-1710 , denotes ,
T6665 1710-1711 CD denotes 4
T6666 1711-1712 , denotes ,
T6667 1714-1726 NN denotes triphosphate
T6668 1713-1714 HYPH denotes -
T6669 1736-1737 CD denotes 1
T6670 1738-1739 -LRB- denotes (
T6671 1739-1744 NN denotes Itpr1
T6672 1744-1745 -RRB- denotes )
T6673 1745-1746 . denotes .
T6674 1746-1953 sentence denotes Sequencing of all exons and intron–exon boundaries of Itpr1 in affected mice from the current study revealed a single mutation within Itpr1: a novel in-frame deletion of 18 bp within exon 36 (Itpr1Δ18/Δ18).
T6675 1747-1757 NN denotes Sequencing
T6676 1847-1855 VBD denotes revealed
T6677 1758-1760 IN denotes of
T6678 1761-1764 DT denotes all
T6679 1765-1770 NNS denotes exons
T6680 1771-1774 CC denotes and
T6681 1775-1781 NN denotes intron
T6682 1782-1786 NN denotes exon
T6683 1781-1782 HYPH denotes
T6684 1787-1797 NNS denotes boundaries
T6685 1798-1800 IN denotes of
T6686 1801-1806 NN denotes Itpr1
T6687 1807-1809 IN denotes in
T6688 1810-1818 VBN denotes affected
T6689 1819-1823 NNS denotes mice
T6690 1824-1828 IN denotes from
T6691 1829-1832 DT denotes the
T6692 1841-1846 NN denotes study
T6693 1833-1840 JJ denotes current
T6694 1856-1857 DT denotes a
T6695 1865-1873 NN denotes mutation
T6696 1858-1864 JJ denotes single
T6697 1874-1880 IN denotes within
T6698 1881-1886 NN denotes Itpr1
T6699 1886-1888 : denotes :
T6700 1888-1889 DT denotes a
T6701 1905-1913 NN denotes deletion
T6702 1890-1895 JJ denotes novel
T6703 1896-1898 IN denotes in
T6704 1898-1899 HYPH denotes -
T6705 1899-1904 NN denotes frame
T6706 1914-1916 IN denotes of
T6707 1917-1919 CD denotes 18
T6708 1920-1922 NN denotes bp
T6709 1923-1929 IN denotes within
T6710 1930-1934 NN denotes exon
T6711 1935-1937 CD denotes 36
T6712 1938-1939 -LRB- denotes (
T6713 1948-1951 NN denotes Δ18
T6714 1939-1947 NN denotes Itpr1Δ18
T6715 1947-1948 HYPH denotes /
T6716 1951-1952 -RRB- denotes )
T6717 1952-1953 . denotes .
T6718 1953-2124 sentence denotes To confirm the pathogenicity of this mutation we crossed heterozygous mice from the current study (Itpr1wt/Δ18) with mice heterozygous for the opt mutation (Itpr1wt/opt).
T6719 1954-1956 TO denotes To
T6720 1957-1964 VB denotes confirm
T6721 2003-2010 VBD denotes crossed
T6722 1965-1968 DT denotes the
T6723 1969-1982 NN denotes pathogenicity
T6724 1983-1985 IN denotes of
T6725 1986-1990 DT denotes this
T6726 1991-1999 NN denotes mutation
T6727 2000-2002 PRP denotes we
T6728 2011-2023 JJ denotes heterozygous
T6729 2024-2028 NNS denotes mice
T6730 2029-2033 IN denotes from
T6731 2034-2037 DT denotes the
T6732 2046-2051 NN denotes study
T6733 2038-2045 JJ denotes current
T6734 2052-2053 -LRB- denotes (
T6735 2061-2064 NN denotes Δ18
T6736 2053-2060 NN denotes Itpr1wt
T6737 2060-2061 HYPH denotes /
T6738 2064-2065 -RRB- denotes )
T6739 2066-2070 IN denotes with
T6740 2071-2075 NNS denotes mice
T6741 2076-2088 JJ denotes heterozygous
T6742 2089-2092 IN denotes for
T6743 2093-2096 DT denotes the
T6744 2101-2109 NN denotes mutation
T6745 2097-2100 NN denotes opt
T6746 2110-2111 -LRB- denotes (
T6747 2119-2122 NN denotes opt
T6748 2111-2118 NN denotes Itpr1wt
T6749 2118-2119 HYPH denotes /
T6750 2122-2123 -RRB- denotes )
T6751 2123-2124 . denotes .
T6752 2124-2323 sentence denotes This resulted in two litters of mice with a total of four affected Itpr1opt/Δ18 pups (from a total of 15) with a phenotype indistinguishable from that of the Itpr1Δ18/Δ18 and Itpr1opt /opt mice [1].
T6753 2125-2129 DT denotes This
T6754 2130-2138 VBD denotes resulted
T6755 2139-2141 IN denotes in
T6756 2142-2145 CD denotes two
T6757 2146-2153 NNS denotes litters
T6758 2154-2156 IN denotes of
T6759 2157-2161 NNS denotes mice
T6760 2162-2166 IN denotes with
T6761 2167-2168 DT denotes a
T6762 2169-2174 NN denotes total
T6763 2175-2177 IN denotes of
T6764 2178-2182 CD denotes four
T6765 2205-2209 NNS denotes pups
T6766 2183-2191 VBN denotes affected
T6767 2192-2200 NN denotes Itpr1opt
T6768 2201-2204 NN denotes Δ18
T6769 2200-2201 HYPH denotes /
T6770 2210-2211 -LRB- denotes (
T6771 2211-2215 IN denotes from
T6772 2216-2217 DT denotes a
T6773 2218-2223 NN denotes total
T6774 2224-2226 IN denotes of
T6775 2227-2229 CD denotes 15
T6776 2229-2230 -RRB- denotes )
T6777 2231-2235 IN denotes with
T6778 2236-2237 DT denotes a
T6779 2238-2247 NN denotes phenotype
T6780 2248-2265 JJ denotes indistinguishable
T6781 2266-2270 IN denotes from
T6782 2271-2275 DT denotes that
T6783 2276-2278 IN denotes of
T6784 2279-2282 DT denotes the
T6785 2314-2318 NNS denotes mice
T6786 2283-2291 NN denotes Itpr1Δ18
T6787 2292-2295 NN denotes Δ18
T6788 2291-2292 HYPH denotes /
T6789 2296-2299 CC denotes and
T6790 2300-2308 NN denotes Itpr1opt
T6791 2310-2313 NN denotes opt
T6792 2309-2310 HYPH denotes /
T6793 2319-2320 -LRB- denotes [
T6794 2320-2321 CD denotes 1
T6795 2321-2322 -RRB- denotes ]
T6796 2322-2323 . denotes .
T6797 2323-2508 sentence denotes Furthermore, this phenotype was similar, although less severe, to that described in a mouse line with targeted deletion of Itpr1, where ataxia was described as a prominent feature [4].
T6798 2324-2335 RB denotes Furthermore
T6799 2352-2355 VBD denotes was
T6800 2335-2337 , denotes ,
T6801 2337-2341 DT denotes this
T6802 2342-2351 NN denotes phenotype
T6803 2356-2363 JJ denotes similar
T6804 2363-2365 , denotes ,
T6805 2365-2373 IN denotes although
T6806 2379-2385 JJ denotes severe
T6807 2374-2378 RBR denotes less
T6808 2385-2387 , denotes ,
T6809 2387-2389 IN denotes to
T6810 2390-2394 DT denotes that
T6811 2395-2404 VBN denotes described
T6812 2405-2407 IN denotes in
T6813 2408-2409 DT denotes a
T6814 2416-2420 NN denotes line
T6815 2410-2415 NN denotes mouse
T6816 2421-2425 IN denotes with
T6817 2426-2434 VBN denotes targeted
T6818 2435-2443 NN denotes deletion
T6819 2444-2446 IN denotes of
T6820 2447-2452 NN denotes Itpr1
T6821 2452-2454 , denotes ,
T6822 2454-2459 WRB denotes where
T6823 2471-2480 VBN denotes described
T6824 2460-2466 NN denotes ataxia
T6825 2467-2470 VBD denotes was
T6826 2481-2483 IN denotes as
T6827 2484-2485 DT denotes a
T6828 2496-2503 NN denotes feature
T6829 2486-2495 JJ denotes prominent
T6830 2504-2505 -LRB- denotes [
T6831 2505-2506 CD denotes 4
T6832 2506-2507 -RRB- denotes ]
T6833 2507-2508 . denotes .
T6834 2508-2769 sentence denotes As with the Itpr1opt /opt mice, where the deletion of exons 43 and 44 is also predicted to leave the translational reading frame unaffected, the in-frame Itpr1Δ18/Δ18 deletion mutation results in markedly decreased levels of Itpr1 in cerebellar Purkinje cells.
T6835 2509-2511 IN denotes As
T6836 2694-2701 VBZ denotes results
T6837 2512-2516 IN denotes with
T6838 2517-2520 DT denotes the
T6839 2535-2539 NNS denotes mice
T6840 2521-2529 NN denotes Itpr1opt
T6841 2531-2534 NN denotes opt
T6842 2530-2531 HYPH denotes /
T6843 2539-2541 , denotes ,
T6844 2541-2546 WRB denotes where
T6845 2587-2596 VBN denotes predicted
T6846 2547-2550 DT denotes the
T6847 2551-2559 NN denotes deletion
T6848 2560-2562 IN denotes of
T6849 2563-2568 NNS denotes exons
T6850 2569-2571 CD denotes 43
T6851 2572-2575 CC denotes and
T6852 2576-2578 CD denotes 44
T6853 2579-2581 VBZ denotes is
T6854 2582-2586 RB denotes also
T6855 2597-2599 TO denotes to
T6856 2600-2605 VB denotes leave
T6857 2606-2609 DT denotes the
T6858 2632-2637 NN denotes frame
T6859 2610-2623 JJ denotes translational
T6860 2624-2631 NN denotes reading
T6861 2638-2648 JJ denotes unaffected
T6862 2648-2650 , denotes ,
T6863 2650-2653 DT denotes the
T6864 2685-2693 NN denotes mutation
T6865 2654-2656 IN denotes in
T6866 2656-2657 HYPH denotes -
T6867 2657-2662 NN denotes frame
T6868 2663-2671 NN denotes Itpr1Δ18
T6869 2672-2675 NN denotes Δ18
T6870 2671-2672 HYPH denotes /
T6871 2676-2684 NN denotes deletion
T6872 2702-2704 IN denotes in
T6873 2705-2713 RB denotes markedly
T6874 2714-2723 VBN denotes decreased
T6875 2724-2730 NNS denotes levels
T6876 2731-2733 IN denotes of
T6877 2734-2739 NN denotes Itpr1
T6878 2740-2742 IN denotes in
T6879 2743-2753 JJ denotes cerebellar
T6880 2763-2768 NNS denotes cells
T6881 2754-2762 NNP denotes Purkinje
T6882 2768-2769 . denotes .
T6883 2769-2977 sentence denotes In these two spontaneous mutants [1] and in the Itpr1-deficient mouse [4] generated by gene targeting, decreased Itpr1 expression is associated with the same autosomal recessive movement disorder (Figure 1).
T6884 2770-2772 IN denotes In
T6885 2903-2913 VBN denotes associated
T6886 2773-2778 DT denotes these
T6887 2795-2802 NNS denotes mutants
T6888 2779-2782 CD denotes two
T6889 2783-2794 JJ denotes spontaneous
T6890 2803-2804 -LRB- denotes [
T6891 2804-2805 CD denotes 1
T6892 2805-2806 -RRB- denotes ]
T6893 2807-2810 CC denotes and
T6894 2811-2813 IN denotes in
T6895 2814-2817 DT denotes the
T6896 2834-2839 NN denotes mouse
T6897 2818-2823 NN denotes Itpr1
T6898 2824-2833 JJ denotes deficient
T6899 2823-2824 HYPH denotes -
T6900 2840-2841 -LRB- denotes [
T6901 2841-2842 CD denotes 4
T6902 2842-2843 -RRB- denotes ]
T6903 2844-2853 VBN denotes generated
T6904 2854-2856 IN denotes by
T6905 2857-2861 NN denotes gene
T6906 2862-2871 NN denotes targeting
T6907 2871-2873 , denotes ,
T6908 2873-2882 VBN denotes decreased
T6909 2889-2899 NN denotes expression
T6910 2883-2888 NN denotes Itpr1
T6911 2900-2902 VBZ denotes is
T6912 2914-2918 IN denotes with
T6913 2919-2922 DT denotes the
T6914 2957-2965 NN denotes disorder
T6915 2923-2927 JJ denotes same
T6916 2928-2937 JJ denotes autosomal
T6917 2938-2947 JJ denotes recessive
T6918 2948-2956 NN denotes movement
T6919 2966-2967 -LRB- denotes (
T6920 2967-2973 NN denotes Figure
T6921 2974-2975 CD denotes 1
T6922 2975-2976 -RRB- denotes )
T6923 2976-2977 . denotes .
T6924 2977-4166 sentence denotes Figure 1 Immunohistochemistry and Western Blot Analysis of ITPR1 Protein Levels in Mouse Cerebellum (A–F) Immunohistochemistry of cerebellum from a wild-type mouse (A and D), a mouse heterozygous for the Itpr1 18-bp deletion (B and E), and a mouse homozygous for the 18-bp Itpr1 deletion (C and F). (A–C) Immunohistochemistry using polyclonal Itpr1 anti-rabbit antibody (1:2,000; Alexa Fluor 555); (D–F) immunohistochemistry using monoclonal Calb1 anti-mouse antibody (1:6,000; Alexa Fluor 488). Scale bars denote 100 μm. As previously described, Iptr1 is highly expressed in the Purkinje cells. Notably, there appears to be decreased immunoreactivity to Itpr1 in the heterozygous and homozygous mutant mice. (G) Western blot performed to examine Itpr1 levels in whole brain from wild-type, Itpr1wt/Δ18, and Itpr1Δ18/Δ18 mice; this clearly shows a reduction of Itpr1 in brain tissue from Itpr1wt/Δ18 mice and a greater reduction of Itpr1 in Itpr1Δ18/Δ18 mice. Given our interest in human neurological disease we sought to identify any cognate human disorders where linkage had been established to the syntenic region of the human genome, but where no causal mutation had been identified.
T6925 3939-3944 VBN denotes Given
T6926 3991-3997 VBD denotes sought
T6927 3945-3948 PRP$ denotes our
T6928 3949-3957 NN denotes interest
T6929 3958-3960 IN denotes in
T6930 3961-3966 JJ denotes human
T6931 3980-3987 NN denotes disease
T6932 3967-3979 JJ denotes neurological
T6933 3988-3990 PRP denotes we
T6934 3998-4000 TO denotes to
T6935 4001-4009 VB denotes identify
T6936 4010-4013 DT denotes any
T6937 4028-4037 NNS denotes disorders
T6938 4014-4021 JJ denotes cognate
T6939 4022-4027 JJ denotes human
T6940 4038-4043 WRB denotes where
T6941 4061-4072 VBN denotes established
T6942 4044-4051 NN denotes linkage
T6943 4052-4055 VBD denotes had
T6944 4056-4060 VBN denotes been
T6945 4073-4075 IN denotes to
T6946 4076-4079 DT denotes the
T6947 4089-4095 NN denotes region
T6948 4080-4088 JJ denotes syntenic
T6949 4096-4098 IN denotes of
T6950 4099-4102 DT denotes the
T6951 4109-4115 NN denotes genome
T6952 4103-4108 JJ denotes human
T6953 4115-4117 , denotes ,
T6954 4117-4120 CC denotes but
T6955 4121-4126 WRB denotes where
T6956 4155-4165 VBN denotes identified
T6957 4127-4129 DT denotes no
T6958 4137-4145 NN denotes mutation
T6959 4130-4136 JJ denotes causal
T6960 4146-4149 VBD denotes had
T6961 4150-4154 VBN denotes been
T6962 4165-4166 . denotes .
T6963 4166-4255 sentence denotes SCA15, an adult-onset autosomal dominant progressive ataxia is linked to this locus [5].
T6964 4167-4172 NN denotes SCA15
T6965 4230-4236 VBN denotes linked
T6966 4172-4174 , denotes ,
T6967 4174-4176 DT denotes an
T6968 4220-4226 NN denotes ataxia
T6969 4177-4182 JJ denotes adult
T6970 4183-4188 NN denotes onset
T6971 4182-4183 HYPH denotes -
T6972 4189-4198 JJ denotes autosomal
T6973 4199-4207 JJ denotes dominant
T6974 4208-4219 JJ denotes progressive
T6975 4227-4229 VBZ denotes is
T6976 4237-4239 IN denotes to
T6977 4240-4244 DT denotes this
T6978 4245-4250 NN denotes locus
T6979 4251-4252 -LRB- denotes [
T6980 4252-4253 CD denotes 5
T6981 4253-4254 -RRB- denotes ]
T6982 4254-4255 . denotes .
T6983 4255-4536 sentence denotes Although missense mutation of ITPR1 had previously been ruled out [2] and the mode of inheritance was inconsistent with that seen in the Itpr1Δ18 and Itpr1opt mice, the phenotypic presence of ataxia in the mice led us to reexamine this candidate gene as a possible cause of SCA15.
T6984 4256-4264 IN denotes Although
T6985 4312-4317 VBN denotes ruled
T6986 4265-4273 NN denotes missense
T6987 4274-4282 NN denotes mutation
T6988 4283-4285 IN denotes of
T6989 4286-4291 NN denotes ITPR1
T6990 4292-4295 VBD denotes had
T6991 4296-4306 RB denotes previously
T6992 4307-4311 VBN denotes been
T6993 4467-4470 VBD denotes led
T6994 4318-4321 RP denotes out
T6995 4322-4323 -LRB- denotes [
T6996 4323-4324 CD denotes 2
T6997 4324-4325 -RRB- denotes ]
T6998 4326-4329 CC denotes and
T6999 4330-4333 DT denotes the
T7000 4334-4338 NN denotes mode
T7001 4354-4357 VBD denotes was
T7002 4339-4341 IN denotes of
T7003 4342-4353 NN denotes inheritance
T7004 4358-4370 JJ denotes inconsistent
T7005 4371-4375 IN denotes with
T7006 4376-4380 DT denotes that
T7007 4381-4385 VBN denotes seen
T7008 4386-4388 IN denotes in
T7009 4389-4392 DT denotes the
T7010 4415-4419 NNS denotes mice
T7011 4393-4401 NN denotes Itpr1Δ18
T7012 4402-4405 CC denotes and
T7013 4406-4414 NN denotes Itpr1opt
T7014 4419-4421 , denotes ,
T7015 4421-4424 DT denotes the
T7016 4436-4444 NN denotes presence
T7017 4425-4435 JJ denotes phenotypic
T7018 4445-4447 IN denotes of
T7019 4448-4454 NN denotes ataxia
T7020 4455-4457 IN denotes in
T7021 4458-4461 DT denotes the
T7022 4462-4466 NNS denotes mice
T7023 4471-4473 PRP denotes us
T7024 4474-4476 TO denotes to
T7025 4477-4486 VB denotes reexamine
T7026 4487-4491 DT denotes this
T7027 4502-4506 NN denotes gene
T7028 4492-4501 NN denotes candidate
T7029 4507-4509 IN denotes as
T7030 4510-4511 DT denotes a
T7031 4521-4526 NN denotes cause
T7032 4512-4520 JJ denotes possible
T7033 4527-4529 IN denotes of
T7034 4530-4535 NN denotes SCA15
T7035 4535-4536 . denotes .
T7036 4536-4756 sentence denotes We obtained genomic DNA from three affected family members and one family member with unknown disease status from the kindred originally used to define and map SCA15 (family AUS1, of Australian Anglo-Celtic origin) [2].
T7037 4537-4539 PRP denotes We
T7038 4540-4548 VBD denotes obtained
T7039 4549-4556 JJ denotes genomic
T7040 4557-4560 NN denotes DNA
T7041 4561-4565 IN denotes from
T7042 4566-4571 CD denotes three
T7043 4588-4595 NNS denotes members
T7044 4572-4580 VBN denotes affected
T7045 4581-4587 NN denotes family
T7046 4596-4599 CC denotes and
T7047 4600-4603 CD denotes one
T7048 4611-4617 NN denotes member
T7049 4604-4610 NN denotes family
T7050 4618-4622 IN denotes with
T7051 4623-4630 JJ denotes unknown
T7052 4639-4645 NN denotes status
T7053 4631-4638 NN denotes disease
T7054 4646-4650 IN denotes from
T7055 4651-4654 DT denotes the
T7056 4655-4662 NN denotes kindred
T7057 4663-4673 RB denotes originally
T7058 4674-4678 VBN denotes used
T7059 4679-4681 TO denotes to
T7060 4682-4688 VB denotes define
T7061 4689-4692 CC denotes and
T7062 4693-4696 VB denotes map
T7063 4697-4702 NN denotes SCA15
T7064 4703-4704 -LRB- denotes (
T7065 4711-4715 NN denotes AUS1
T7066 4704-4710 NN denotes family
T7067 4715-4717 , denotes ,
T7068 4717-4719 IN denotes of
T7069 4720-4730 JJ denotes Australian
T7070 4744-4750 NN denotes origin
T7071 4731-4736 AFX denotes Anglo
T7072 4737-4743 JJ denotes Celtic
T7073 4736-4737 HYPH denotes -
T7074 4750-4751 -RRB- denotes )
T7075 4752-4753 -LRB- denotes [
T7076 4753-4754 CD denotes 2
T7077 4754-4755 -RRB- denotes ]
T7078 4755-4756 . denotes .
T7079 4756-4932 sentence denotes We performed two experiments concurrently in three affected members of this family: sequence analysis of the coding exons of ITPR1 and high-density genome-wide SNP genotyping.
T7080 4757-4759 PRP denotes We
T7081 4760-4769 VBD denotes performed
T7082 4770-4773 CD denotes two
T7083 4774-4785 NNS denotes experiments
T7084 4786-4798 RB denotes concurrently
T7085 4799-4801 IN denotes in
T7086 4802-4807 CD denotes three
T7087 4817-4824 NNS denotes members
T7088 4808-4816 VBN denotes affected
T7089 4825-4827 IN denotes of
T7090 4828-4832 DT denotes this
T7091 4833-4839 NN denotes family
T7092 4839-4841 : denotes :
T7093 4841-4849 NN denotes sequence
T7094 4850-4858 NN denotes analysis
T7095 4859-4861 IN denotes of
T7096 4862-4865 DT denotes the
T7097 4873-4878 NNS denotes exons
T7098 4866-4872 VBG denotes coding
T7099 4879-4881 IN denotes of
T7100 4882-4887 NN denotes ITPR1
T7101 4888-4891 CC denotes and
T7102 4892-4896 JJ denotes high
T7103 4897-4904 NN denotes density
T7104 4896-4897 HYPH denotes -
T7105 4921-4931 NN denotes genotyping
T7106 4905-4911 NN denotes genome
T7107 4911-4912 HYPH denotes -
T7108 4912-4916 JJ denotes wide
T7109 4917-4920 NN denotes SNP
T7110 4931-4932 . denotes .
T7111 4932-5113 sentence denotes Sequence analysis failed to show any coding alterations segregating with disease or any alterations that were inconsistent with Mendelian patterns of inheritance within the family.
T7112 4933-4941 NN denotes Sequence
T7113 4942-4950 NN denotes analysis
T7114 4951-4957 VBD denotes failed
T7115 4958-4960 TO denotes to
T7116 4961-4965 VB denotes show
T7117 4966-4969 DT denotes any
T7118 4977-4988 NNS denotes alterations
T7119 4970-4976 NN denotes coding
T7120 4989-5000 VBG denotes segregating
T7121 5001-5005 IN denotes with
T7122 5006-5013 NN denotes disease
T7123 5014-5016 CC denotes or
T7124 5017-5020 DT denotes any
T7125 5021-5032 NNS denotes alterations
T7126 5033-5037 WDT denotes that
T7127 5038-5042 VBD denotes were
T7128 5043-5055 JJ denotes inconsistent
T7129 5056-5060 IN denotes with
T7130 5061-5070 JJ denotes Mendelian
T7131 5071-5079 NNS denotes patterns
T7132 5080-5082 IN denotes of
T7133 5083-5094 NN denotes inheritance
T7134 5095-5101 IN denotes within
T7135 5102-5105 DT denotes the
T7136 5106-5112 NN denotes family
T7137 5112-5113 . denotes .
T7138 5113-5401 sentence denotes However, visualization of log R ratio and B allele frequency metrics from the genome-wide SNP genotyping experiments clearly showed data consistent with a heterozygous genomic deletion across the first one-third of ITPR1 and across the first half of a neighboring gene, SUMF1 (Figure 2).
T7139 5114-5121 RB denotes However
T7140 5239-5245 VBD denotes showed
T7141 5121-5123 , denotes ,
T7142 5123-5136 NN denotes visualization
T7143 5137-5139 IN denotes of
T7144 5140-5143 NN denotes log
T7145 5144-5145 NN denotes R
T7146 5146-5151 NN denotes ratio
T7147 5152-5155 CC denotes and
T7148 5156-5157 NN denotes B
T7149 5158-5164 NN denotes allele
T7150 5175-5182 NNS denotes metrics
T7151 5165-5174 NN denotes frequency
T7152 5183-5187 IN denotes from
T7153 5188-5191 DT denotes the
T7154 5219-5230 NNS denotes experiments
T7155 5192-5198 NN denotes genome
T7156 5199-5203 JJ denotes wide
T7157 5198-5199 HYPH denotes -
T7158 5204-5207 NN denotes SNP
T7159 5208-5218 NN denotes genotyping
T7160 5231-5238 RB denotes clearly
T7161 5246-5250 NNS denotes data
T7162 5251-5261 JJ denotes consistent
T7163 5262-5266 IN denotes with
T7164 5267-5268 DT denotes a
T7165 5290-5298 NN denotes deletion
T7166 5269-5281 JJ denotes heterozygous
T7167 5282-5289 JJ denotes genomic
T7168 5299-5305 IN denotes across
T7169 5306-5309 DT denotes the
T7170 5320-5325 NN denotes third
T7171 5310-5315 JJ denotes first
T7172 5316-5319 CD denotes one
T7173 5319-5320 HYPH denotes -
T7174 5326-5328 IN denotes of
T7175 5329-5334 NN denotes ITPR1
T7176 5335-5338 CC denotes and
T7177 5339-5345 IN denotes across
T7178 5346-5349 DT denotes the
T7179 5356-5360 NN denotes half
T7180 5350-5355 JJ denotes first
T7181 5361-5363 IN denotes of
T7182 5364-5365 DT denotes a
T7183 5378-5382 NN denotes gene
T7184 5366-5377 JJ denotes neighboring
T7185 5382-5384 , denotes ,
T7186 5384-5389 NN denotes SUMF1
T7187 5390-5391 -LRB- denotes (
T7188 5391-5397 NN denotes Figure
T7189 5398-5399 CD denotes 2
T7190 5399-5400 -RRB- denotes )
T7191 5400-5401 . denotes .
T7192 5401-5549 sentence denotes This deletion was apparent in all three affected family members studied and absent from the family member with unknown affection status (Figure 3).
T7193 5402-5406 DT denotes This
T7194 5407-5415 NN denotes deletion
T7195 5416-5419 VBD denotes was
T7196 5420-5428 JJ denotes apparent
T7197 5429-5431 IN denotes in
T7198 5432-5435 DT denotes all
T7199 5458-5465 NNS denotes members
T7200 5436-5441 CD denotes three
T7201 5442-5450 VBN denotes affected
T7202 5451-5457 NN denotes family
T7203 5466-5473 VBN denotes studied
T7204 5474-5477 CC denotes and
T7205 5478-5484 JJ denotes absent
T7206 5485-5489 IN denotes from
T7207 5490-5493 DT denotes the
T7208 5501-5507 NN denotes member
T7209 5494-5500 NN denotes family
T7210 5508-5512 IN denotes with
T7211 5513-5520 JJ denotes unknown
T7212 5531-5537 NN denotes status
T7213 5521-5530 NN denotes affection
T7214 5538-5539 -LRB- denotes (
T7215 5539-5545 NN denotes Figure
T7216 5546-5547 CD denotes 3
T7217 5547-5548 -RRB- denotes )
T7218 5548-5549 . denotes .
T7219 5549-5908 sentence denotes The SNP data showed a deletion of between 188 kb and 210 kb in size; examination of SNPs at the flanking unknown regions of this deletion allowed us to delimit the borders of the deletion to 7.5 kb on the telomeric side of the deletion (between rs12634249 and rs793396) and ~14.4 kb on the centromeric side of the deletion (between rs4073665 and rs17709863).
T7220 5550-5553 DT denotes The
T7221 5558-5562 NNS denotes data
T7222 5554-5557 NN denotes SNP
T7223 5563-5569 VBD denotes showed
T7224 5688-5695 VBD denotes allowed
T7225 5570-5571 DT denotes a
T7226 5572-5580 NN denotes deletion
T7227 5581-5583 IN denotes of
T7228 5584-5591 IN denotes between
T7229 5592-5595 CD denotes 188
T7230 5596-5598 NN denotes kb
T7231 5599-5602 CC denotes and
T7232 5603-5606 CD denotes 210
T7233 5607-5609 NN denotes kb
T7234 5610-5612 IN denotes in
T7235 5613-5617 NN denotes size
T7236 5617-5618 : denotes ;
T7237 5619-5630 NN denotes examination
T7238 5631-5633 IN denotes of
T7239 5634-5638 NNS denotes SNPs
T7240 5639-5641 IN denotes at
T7241 5642-5645 DT denotes the
T7242 5663-5670 NNS denotes regions
T7243 5646-5654 VBG denotes flanking
T7244 5655-5662 JJ denotes unknown
T7245 5671-5673 IN denotes of
T7246 5674-5678 DT denotes this
T7247 5679-5687 NN denotes deletion
T7248 5696-5698 PRP denotes us
T7249 5702-5709 VB denotes delimit
T7250 5699-5701 TO denotes to
T7251 5710-5713 DT denotes the
T7252 5714-5721 NNS denotes borders
T7253 5722-5724 IN denotes of
T7254 5725-5728 DT denotes the
T7255 5729-5737 NN denotes deletion
T7256 5738-5740 IN denotes to
T7257 5741-5744 CD denotes 7.5
T7258 5745-5747 NN denotes kb
T7259 5748-5750 IN denotes on
T7260 5751-5754 DT denotes the
T7261 5765-5769 NN denotes side
T7262 5755-5764 JJ denotes telomeric
T7263 5770-5772 IN denotes of
T7264 5773-5776 DT denotes the
T7265 5777-5785 NN denotes deletion
T7266 5786-5787 -LRB- denotes (
T7267 5787-5794 IN denotes between
T7268 5795-5805 NN denotes rs12634249
T7269 5806-5809 CC denotes and
T7270 5810-5818 NN denotes rs793396
T7271 5818-5819 -RRB- denotes )
T7272 5820-5823 CC denotes and
T7273 5824-5825 SYM denotes ~
T7274 5825-5829 CD denotes 14.4
T7275 5830-5832 NN denotes kb
T7276 5833-5835 IN denotes on
T7277 5836-5839 DT denotes the
T7278 5852-5856 NN denotes side
T7279 5840-5851 JJ denotes centromeric
T7280 5857-5859 IN denotes of
T7281 5860-5863 DT denotes the
T7282 5864-5872 NN denotes deletion
T7283 5873-5874 -LRB- denotes (
T7284 5874-5881 IN denotes between
T7285 5882-5891 NN denotes rs4073665
T7286 5892-5895 CC denotes and
T7287 5896-5906 NN denotes rs17709863
T7288 5906-5907 -RRB- denotes )
T7289 5907-5908 . denotes .
T7290 5908-6192 sentence denotes In an attempt to define whether this variation was a benign polymorphism we analyzed genome-wide SNP data at this locus, produced using the same genotyping chip, from 577 individuals of European descent who were either controls or individuals with an unrelated neurological disorder.
T7291 5909-5911 IN denotes In
T7292 5985-5993 VBD denotes analyzed
T7293 5912-5914 DT denotes an
T7294 5915-5922 NN denotes attempt
T7295 5923-5925 TO denotes to
T7296 5926-5932 VB denotes define
T7297 5933-5940 IN denotes whether
T7298 5956-5959 VBD denotes was
T7299 5941-5945 DT denotes this
T7300 5946-5955 NN denotes variation
T7301 5960-5961 DT denotes a
T7302 5969-5981 NN denotes polymorphism
T7303 5962-5968 JJ denotes benign
T7304 5982-5984 PRP denotes we
T7305 5994-6000 NN denotes genome
T7306 6001-6005 JJ denotes wide
T7307 6000-6001 HYPH denotes -
T7308 6010-6014 NNS denotes data
T7309 6006-6009 NN denotes SNP
T7310 6015-6017 IN denotes at
T7311 6018-6022 DT denotes this
T7312 6023-6028 NN denotes locus
T7313 6028-6030 , denotes ,
T7314 6030-6038 VBN denotes produced
T7315 6039-6044 VBG denotes using
T7316 6045-6048 DT denotes the
T7317 6065-6069 NN denotes chip
T7318 6049-6053 JJ denotes same
T7319 6054-6064 NN denotes genotyping
T7320 6069-6071 , denotes ,
T7321 6071-6075 IN denotes from
T7322 6076-6079 CD denotes 577
T7323 6080-6091 NNS denotes individuals
T7324 6092-6094 IN denotes of
T7325 6095-6103 JJ denotes European
T7326 6104-6111 NN denotes descent
T7327 6112-6115 WP denotes who
T7328 6116-6120 VBD denotes were
T7329 6121-6127 CC denotes either
T7330 6128-6136 NNS denotes controls
T7331 6137-6139 CC denotes or
T7332 6140-6151 NNS denotes individuals
T7333 6152-6156 IN denotes with
T7334 6157-6159 DT denotes an
T7335 6183-6191 NN denotes disorder
T7336 6160-6169 JJ denotes unrelated
T7337 6170-6182 JJ denotes neurological
T7338 6191-6192 . denotes .
T7339 6192-6460 sentence denotes We failed to find any deletions affecting the coding sequence of either gene, ITPR1 or SUMF1; we did, however, identify a single individual with a possible heterozygous deletion approximately 6 kb in size within intron 40–41 of ITPR1, at least 5 kb away from exon 40.
T7340 6193-6195 PRP denotes We
T7341 6196-6202 VBD denotes failed
T7342 6304-6312 VB denotes identify
T7343 6203-6205 TO denotes to
T7344 6206-6210 VB denotes find
T7345 6211-6214 DT denotes any
T7346 6215-6224 NNS denotes deletions
T7347 6225-6234 VBG denotes affecting
T7348 6235-6238 DT denotes the
T7349 6246-6254 NN denotes sequence
T7350 6239-6245 NN denotes coding
T7351 6255-6257 IN denotes of
T7352 6258-6264 DT denotes either
T7353 6265-6269 NN denotes gene
T7354 6269-6271 , denotes ,
T7355 6271-6276 NN denotes ITPR1
T7356 6277-6279 CC denotes or
T7357 6280-6285 NN denotes SUMF1
T7358 6285-6286 : denotes ;
T7359 6287-6289 PRP denotes we
T7360 6290-6293 VBD denotes did
T7361 6293-6295 , denotes ,
T7362 6295-6302 RB denotes however
T7363 6302-6304 , denotes ,
T7364 6313-6314 DT denotes a
T7365 6322-6332 NN denotes individual
T7366 6315-6321 JJ denotes single
T7367 6333-6337 IN denotes with
T7368 6338-6339 DT denotes a
T7369 6362-6370 NN denotes deletion
T7370 6340-6348 JJ denotes possible
T7371 6349-6361 JJ denotes heterozygous
T7372 6371-6384 RB denotes approximately
T7373 6385-6386 CD denotes 6
T7374 6387-6389 NN denotes kb
T7375 6390-6392 IN denotes in
T7376 6393-6397 NN denotes size
T7377 6398-6404 IN denotes within
T7378 6405-6411 NN denotes intron
T7379 6412-6414 CD denotes 40
T7380 6414-6415 SYM denotes
T7381 6415-6417 CD denotes 41
T7382 6418-6420 IN denotes of
T7383 6421-6426 NN denotes ITPR1
T7384 6426-6428 , denotes ,
T7385 6428-6430 RB denotes at
T7386 6437-6438 CD denotes 5
T7387 6431-6436 RBS denotes least
T7388 6439-6441 NN denotes kb
T7389 6442-6446 RB denotes away
T7390 6447-6451 IN denotes from
T7391 6452-6456 NN denotes exon
T7392 6457-6459 CD denotes 40
T7393 6459-6460 . denotes .
T7394 6460-6560 sentence denotes Given the location of this alteration it is unlikely to effect the expression or splicing of ITPR1.
T7395 6461-6466 VBN denotes Given
T7396 6502-6504 VBZ denotes is
T7397 6467-6470 DT denotes the
T7398 6471-6479 NN denotes location
T7399 6480-6482 IN denotes of
T7400 6483-6487 DT denotes this
T7401 6488-6498 NN denotes alteration
T7402 6499-6501 PRP denotes it
T7403 6505-6513 JJ denotes unlikely
T7404 6514-6516 TO denotes to
T7405 6517-6523 VB denotes effect
T7406 6524-6527 DT denotes the
T7407 6528-6538 NN denotes expression
T7408 6539-6541 CC denotes or
T7409 6542-6550 NN denotes splicing
T7410 6551-6553 IN denotes of
T7411 6554-6559 NN denotes ITPR1
T7412 6559-6560 . denotes .
T7413 6560-9161 sentence denotes Figure 2 Metrics Derived from Analysis of DNA from Affected Family Member 7 Using Illumina Infinium HumanHap550 Genotyping Chips The upper and lower plots are log R ratio and B allele frequency, respectively, at an ~800-kb segment on the p arm of Chromosome 3. Log R ratio is the ratio of normalized, observed R to expected R for each SNP (each SNP is a blue dot) and thus serves as a surrogate of copy number at each locus. B allele frequency is a measure of the number of times the A or B alleles are detected at each locus (each SNP is denoted by a blue dot). Thus, SNPs with a B allele frequency of one are apparent B/B homozygotes, SNPs with a B allele frequency of 0.5 are apparent A/B heterozygotes, and those with a B allele frequency of zero are apparent A/A homozygotes. Clearly, these plots show a contiguous region ~200 kb long with decreased copy number and apparent homozygosity (bounded by a red box). As we have demonstrated previously, this is indicative of a heterozygous genomic deletion [15]. Below these plots is a schematic of the two known genes affected by this deletion, ITPR1 and SUMF1. Figure 3 Mutation Analysis in the Australian SCA15 Family (Top) Pedigree of kindred. Filled symbols denote affected individuals; open symbols, unaffected individuals; grey symbol denotes unknown disease status; bulls-eye symbol denotes obligate carrier. w/w, wild-type at ITPR1; w/m, heterozygous carrier of the ITPR1 deletion. (Middle) Schematic of primer pairs used to narrow the unknown regions between known deleted sequence and known diploid sequence at the SCA15 locus. Nine primer pairs (T1–T9) were used to amplify across the unknown region telomeric to the known deleted region; 19 primer pairs (C1–C19) were used to amplify across the unknown region centromeric to the known deleted region. All PCRs were carried out in the three affected family members. Analysis of these data narrowed the unknown region, and ultimately we were able to use primer T3f and C11r to amplify across the deletion breakpoint in the three affected family members, producing a fragment of 953 bp in affected individuals. (Bottom) Gel showing amplification product using primer pair T3f and C11r from affected pedigree members 6, 7, and 19; in pedigree member 23, with unknown disease affection status; in a neurologically normal control (C); and in a no template control (NC). In an attempt to fine-map the breakpoints of the disease-causing deletion we performed a series of experiments designed to refine the unknown intervals at the edges between definite deleted and definite diploid sequences.
T7414 8940-8942 IN denotes In
T7415 9017-9026 VBD denotes performed
T7416 8943-8945 DT denotes an
T7417 8946-8953 NN denotes attempt
T7418 8954-8956 TO denotes to
T7419 8962-8965 VB denotes map
T7420 8957-8961 RB denotes fine
T7421 8961-8962 HYPH denotes -
T7422 8966-8969 DT denotes the
T7423 8970-8981 NNS denotes breakpoints
T7424 8982-8984 IN denotes of
T7425 8985-8988 DT denotes the
T7426 9005-9013 NN denotes deletion
T7427 8989-8996 NN denotes disease
T7428 8997-9004 VBG denotes causing
T7429 8996-8997 HYPH denotes -
T7430 9014-9016 PRP denotes we
T7431 9027-9028 DT denotes a
T7432 9029-9035 NN denotes series
T7433 9036-9038 IN denotes of
T7434 9039-9050 NNS denotes experiments
T7435 9051-9059 VBN denotes designed
T7436 9060-9062 TO denotes to
T7437 9063-9069 VB denotes refine
T7438 9070-9073 DT denotes the
T7439 9082-9091 NNS denotes intervals
T7440 9074-9081 JJ denotes unknown
T7441 9092-9094 IN denotes at
T7442 9095-9098 DT denotes the
T7443 9099-9104 NNS denotes edges
T7444 9105-9112 IN denotes between
T7445 9113-9121 JJ denotes definite
T7446 9122-9129 VBN denotes deleted
T7447 9151-9160 NNS denotes sequences
T7448 9130-9133 CC denotes and
T7449 9134-9142 JJ denotes definite
T7450 9143-9150 JJ denotes diploid
T7451 9160-9161 . denotes .
T7452 9161-9267 sentence denotes These data narrowed the unknown borders to ~4 kb on the telomeric side and ~7 kb on the centromeric side.
T7453 9162-9167 DT denotes These
T7454 9168-9172 NNS denotes data
T7455 9173-9181 VBD denotes narrowed
T7456 9182-9185 DT denotes the
T7457 9194-9201 NNS denotes borders
T7458 9186-9193 JJ denotes unknown
T7459 9202-9204 IN denotes to
T7460 9205-9206 SYM denotes ~
T7461 9206-9207 CD denotes 4
T7462 9208-9210 NN denotes kb
T7463 9211-9213 IN denotes on
T7464 9214-9217 DT denotes the
T7465 9228-9232 NN denotes side
T7466 9218-9227 JJ denotes telomeric
T7467 9233-9236 CC denotes and
T7468 9237-9238 SYM denotes ~
T7469 9238-9239 CD denotes 7
T7470 9240-9242 NN denotes kb
T7471 9243-9245 IN denotes on
T7472 9246-9249 DT denotes the
T7473 9262-9266 NN denotes side
T7474 9250-9261 JJ denotes centromeric
T7475 9266-9267 . denotes .
T7476 9267-9562 sentence denotes We used all possible combinations of forward orientation primers designed within the newly defined telomeric boundary and of reverse orientation primers designed within the newly defined centromeric boundary in PCR assays in an attempt to amplify across the deletion in affected family members.
T7477 9268-9270 PRP denotes We
T7478 9271-9275 VBD denotes used
T7479 9276-9279 DT denotes all
T7480 9289-9301 NNS denotes combinations
T7481 9280-9288 JJ denotes possible
T7482 9302-9304 IN denotes of
T7483 9305-9312 JJ denotes forward
T7484 9313-9324 NN denotes orientation
T7485 9325-9332 NNS denotes primers
T7486 9333-9341 VBN denotes designed
T7487 9342-9348 IN denotes within
T7488 9349-9352 DT denotes the
T7489 9377-9385 NN denotes boundary
T7490 9353-9358 RB denotes newly
T7491 9359-9366 VBN denotes defined
T7492 9367-9376 JJ denotes telomeric
T7493 9386-9389 CC denotes and
T7494 9390-9392 IN denotes of
T7495 9393-9400 JJ denotes reverse
T7496 9401-9412 NN denotes orientation
T7497 9413-9420 NNS denotes primers
T7498 9421-9429 VBN denotes designed
T7499 9430-9436 IN denotes within
T7500 9437-9440 DT denotes the
T7501 9467-9475 NN denotes boundary
T7502 9441-9446 RB denotes newly
T7503 9447-9454 VBN denotes defined
T7504 9455-9466 JJ denotes centromeric
T7505 9476-9478 IN denotes in
T7506 9479-9482 NN denotes PCR
T7507 9483-9489 NNS denotes assays
T7508 9490-9492 IN denotes in
T7509 9493-9495 DT denotes an
T7510 9496-9503 NN denotes attempt
T7511 9504-9506 TO denotes to
T7512 9507-9514 VB denotes amplify
T7513 9515-9521 IN denotes across
T7514 9522-9525 DT denotes the
T7515 9526-9534 NN denotes deletion
T7516 9535-9537 IN denotes in
T7517 9538-9546 VBN denotes affected
T7518 9554-9561 NNS denotes members
T7519 9547-9553 NN denotes family
T7520 9561-9562 . denotes .
T7521 9562-9754 sentence denotes Using PCR primers T3F and C11R, which should be more than 200 kb apart, we were able to amplify a fragment 953 bp in size using DNA from each of the three affected family members as template.
T7522 9563-9568 VBG denotes Using
T7523 9638-9642 VBD denotes were
T7524 9569-9572 NN denotes PCR
T7525 9573-9580 NNS denotes primers
T7526 9581-9584 NN denotes T3F
T7527 9585-9588 CC denotes and
T7528 9589-9593 NN denotes C11R
T7529 9593-9595 , denotes ,
T7530 9595-9600 WDT denotes which
T7531 9608-9610 VB denotes be
T7532 9601-9607 MD denotes should
T7533 9611-9615 JJR denotes more
T7534 9621-9624 CD denotes 200
T7535 9616-9620 IN denotes than
T7536 9625-9627 NN denotes kb
T7537 9628-9633 RB denotes apart
T7538 9633-9635 , denotes ,
T7539 9635-9637 PRP denotes we
T7540 9643-9647 JJ denotes able
T7541 9648-9650 TO denotes to
T7542 9651-9658 VB denotes amplify
T7543 9659-9660 DT denotes a
T7544 9661-9669 NN denotes fragment
T7545 9670-9673 CD denotes 953
T7546 9674-9676 NN denotes bp
T7547 9677-9679 IN denotes in
T7548 9680-9684 NN denotes size
T7549 9685-9690 VBG denotes using
T7550 9691-9694 NN denotes DNA
T7551 9695-9699 IN denotes from
T7552 9700-9704 DT denotes each
T7553 9705-9707 IN denotes of
T7554 9708-9711 DT denotes the
T7555 9734-9741 NNS denotes members
T7556 9712-9717 CD denotes three
T7557 9718-9726 VBN denotes affected
T7558 9727-9733 NN denotes family
T7559 9742-9744 IN denotes as
T7560 9745-9753 NN denotes template
T7561 9753-9754 . denotes .
T7562 9754-9925 sentence denotes Sequencing of this fragment revealed a deletion of 201,509 bp (Figure S3), removing the first three of the nine exons of SUMF1 and the first ten of the 58 exons of ITPR1.
T7563 9755-9765 NN denotes Sequencing
T7564 9783-9791 VBD denotes revealed
T7565 9766-9768 IN denotes of
T7566 9769-9773 DT denotes this
T7567 9774-9782 NN denotes fragment
T7568 9792-9793 DT denotes a
T7569 9794-9802 NN denotes deletion
T7570 9803-9805 IN denotes of
T7571 9806-9813 CD denotes 201,509
T7572 9814-9816 NN denotes bp
T7573 9817-9818 -LRB- denotes (
T7574 9825-9827 NN denotes S3
T7575 9818-9824 NN denotes Figure
T7576 9827-9828 -RRB- denotes )
T7577 9828-9830 , denotes ,
T7578 9830-9838 VBG denotes removing
T7579 9839-9842 DT denotes the
T7580 9849-9854 CD denotes three
T7581 9843-9848 JJ denotes first
T7582 9855-9857 IN denotes of
T7583 9858-9861 DT denotes the
T7584 9867-9872 NNS denotes exons
T7585 9862-9866 CD denotes nine
T7586 9873-9875 IN denotes of
T7587 9876-9881 NN denotes SUMF1
T7588 9882-9885 CC denotes and
T7589 9886-9889 DT denotes the
T7590 9896-9899 CD denotes ten
T7591 9890-9895 JJ denotes first
T7592 9900-9902 IN denotes of
T7593 9903-9906 DT denotes the
T7594 9910-9915 NNS denotes exons
T7595 9907-9909 CD denotes 58
T7596 9916-9918 IN denotes of
T7597 9919-9924 NN denotes ITPR1
T7598 9924-9925 . denotes .
T7599 9925-10074 sentence denotes We were unable to amplify the deletion-specific fragment in the family member of unknown affection status, or in 275 neurologically normal controls.
T7600 9926-9928 PRP denotes We
T7601 9929-9933 VBD denotes were
T7602 9934-9940 JJ denotes unable
T7603 9941-9943 TO denotes to
T7604 9944-9951 VB denotes amplify
T7605 9952-9955 DT denotes the
T7606 9974-9982 NN denotes fragment
T7607 9956-9964 NN denotes deletion
T7608 9965-9973 JJ denotes specific
T7609 9964-9965 HYPH denotes -
T7610 9983-9985 IN denotes in
T7611 9986-9989 DT denotes the
T7612 9997-10003 NN denotes member
T7613 9990-9996 NN denotes family
T7614 10004-10006 IN denotes of
T7615 10007-10014 JJ denotes unknown
T7616 10025-10031 NN denotes status
T7617 10015-10024 NN denotes affection
T7618 10031-10033 , denotes ,
T7619 10033-10035 CC denotes or
T7620 10036-10038 IN denotes in
T7621 10039-10042 CD denotes 275
T7622 10065-10073 NNS denotes controls
T7623 10043-10057 RB denotes neurologically
T7624 10058-10064 JJ denotes normal
T7625 10073-10074 . denotes .
T7626 10074-10326 sentence denotes To further establish genetic deletion at ITPR1 as the cause of SCA15 we analyzed two additional families with an inherited cerebellar ataxia similar to that described in the AUS1 family, ascertained through neurology clinics in London, United Kingdom.
T7627 10075-10077 TO denotes To
T7628 10086-10095 VB denotes establish
T7629 10078-10085 RB denotes further
T7630 10147-10155 VBD denotes analyzed
T7631 10096-10103 JJ denotes genetic
T7632 10104-10112 NN denotes deletion
T7633 10113-10115 IN denotes at
T7634 10116-10121 NN denotes ITPR1
T7635 10122-10124 IN denotes as
T7636 10125-10128 DT denotes the
T7637 10129-10134 NN denotes cause
T7638 10135-10137 IN denotes of
T7639 10138-10143 NN denotes SCA15
T7640 10144-10146 PRP denotes we
T7641 10156-10159 CD denotes two
T7642 10171-10179 NNS denotes families
T7643 10160-10170 JJ denotes additional
T7644 10180-10184 IN denotes with
T7645 10185-10187 DT denotes an
T7646 10209-10215 NN denotes ataxia
T7647 10188-10197 VBN denotes inherited
T7648 10198-10208 JJ denotes cerebellar
T7649 10216-10223 JJ denotes similar
T7650 10224-10226 IN denotes to
T7651 10227-10231 DT denotes that
T7652 10232-10241 VBN denotes described
T7653 10242-10244 IN denotes in
T7654 10245-10248 DT denotes the
T7655 10254-10260 NN denotes family
T7656 10249-10253 NN denotes AUS1
T7657 10260-10262 , denotes ,
T7658 10262-10273 VBN denotes ascertained
T7659 10274-10281 IN denotes through
T7660 10282-10291 NN denotes neurology
T7661 10292-10299 NNS denotes clinics
T7662 10300-10302 IN denotes in
T7663 10303-10309 NNP denotes London
T7664 10309-10311 , denotes ,
T7665 10311-10317 NNP denotes United
T7666 10318-10325 NNP denotes Kingdom
T7667 10325-10326 . denotes .
T7668 10326-10479 sentence denotes DNA extracted from probands from these two families (family H33 and family H27) were also analyzed using Illumina Infinium HumanHap550 genotyping chips.
T7669 10327-10330 NN denotes DNA
T7670 10417-10425 VBN denotes analyzed
T7671 10331-10340 VBN denotes extracted
T7672 10341-10345 IN denotes from
T7673 10346-10354 NNS denotes probands
T7674 10355-10359 IN denotes from
T7675 10360-10365 DT denotes these
T7676 10370-10378 NNS denotes families
T7677 10366-10369 CD denotes two
T7678 10379-10380 -LRB- denotes (
T7679 10387-10390 NN denotes H33
T7680 10380-10386 NN denotes family
T7681 10391-10394 CC denotes and
T7682 10395-10401 NN denotes family
T7683 10402-10405 NN denotes H27
T7684 10405-10406 -RRB- denotes )
T7685 10407-10411 VBD denotes were
T7686 10412-10416 RB denotes also
T7687 10426-10431 VBG denotes using
T7688 10432-10440 NNP denotes Illumina
T7689 10450-10461 NNP denotes HumanHap550
T7690 10441-10449 NNP denotes Infinium
T7691 10473-10478 NNS denotes chips
T7692 10462-10472 NN denotes genotyping
T7693 10478-10479 . denotes .
T7694 10479-10591 sentence denotes These experiments showed deletion at the SCA15 locus in all affected members assayed, from SUMF1 through ITPR1.
T7695 10480-10485 DT denotes These
T7696 10486-10497 NNS denotes experiments
T7697 10498-10504 VBD denotes showed
T7698 10505-10513 NN denotes deletion
T7699 10514-10516 IN denotes at
T7700 10517-10520 DT denotes the
T7701 10527-10532 NN denotes locus
T7702 10521-10526 NN denotes SCA15
T7703 10533-10535 IN denotes in
T7704 10536-10539 DT denotes all
T7705 10549-10556 NNS denotes members
T7706 10540-10548 VBN denotes affected
T7707 10557-10564 VBN denotes assayed
T7708 10564-10566 , denotes ,
T7709 10566-10570 IN denotes from
T7710 10571-10576 NN denotes SUMF1
T7711 10577-10584 IN denotes through
T7712 10585-10590 NN denotes ITPR1
T7713 10590-10591 . denotes .
T7714 10591-10666 sentence denotes These mutations segregated with disease in these two families (Figure S3).
T7715 10592-10597 DT denotes These
T7716 10598-10607 NNS denotes mutations
T7717 10608-10618 VBD denotes segregated
T7718 10619-10623 IN denotes with
T7719 10624-10631 NN denotes disease
T7720 10632-10634 IN denotes in
T7721 10635-10640 DT denotes these
T7722 10645-10653 NNS denotes families
T7723 10641-10644 CD denotes two
T7724 10654-10655 -LRB- denotes (
T7725 10662-10664 NN denotes S3
T7726 10655-10661 NN denotes Figure
T7727 10664-10665 -RRB- denotes )
T7728 10665-10666 . denotes .
T7729 10666-10788 sentence denotes A strategy similar to the one outlined above enabled us to sequence over the breakpoint in family H27 but not family H33.
T7730 10667-10668 DT denotes A
T7731 10669-10677 NN denotes strategy
T7732 10712-10719 VBD denotes enabled
T7733 10678-10685 JJ denotes similar
T7734 10686-10688 IN denotes to
T7735 10689-10692 DT denotes the
T7736 10693-10696 CD denotes one
T7737 10697-10705 VBN denotes outlined
T7738 10706-10711 RB denotes above
T7739 10720-10722 PRP denotes us
T7740 10723-10725 TO denotes to
T7741 10726-10734 VB denotes sequence
T7742 10735-10739 IN denotes over
T7743 10740-10743 DT denotes the
T7744 10744-10754 NN denotes breakpoint
T7745 10755-10757 IN denotes in
T7746 10758-10764 NN denotes family
T7747 10765-10768 NN denotes H27
T7748 10769-10772 CC denotes but
T7749 10773-10776 RB denotes not
T7750 10777-10783 NN denotes family
T7751 10784-10787 NN denotes H33
T7752 10787-10788 . denotes .
T7753 10788-11010 sentence denotes In the former, the deletion spans 344,408 bp, removing exons 1–3 of SUMF1 and 1–44 of ITPR1; in the latter, we estimate that the deletion is 310 kb in length and that it removes exons 1–3 of SUMF1 and exons 1–40 of ITPR1.
T7754 10789-10791 IN denotes In
T7755 10817-10822 VBZ denotes spans
T7756 10792-10795 DT denotes the
T7757 10796-10802 JJ denotes former
T7758 10802-10804 , denotes ,
T7759 10804-10807 DT denotes the
T7760 10808-10816 NN denotes deletion
T7761 10900-10908 VBP denotes estimate
T7762 10823-10830 CD denotes 344,408
T7763 10831-10833 NN denotes bp
T7764 10833-10835 , denotes ,
T7765 10835-10843 VBG denotes removing
T7766 10844-10849 NNS denotes exons
T7767 10850-10851 CD denotes 1
T7768 10851-10852 SYM denotes
T7769 10852-10853 CD denotes 3
T7770 10854-10856 IN denotes of
T7771 10857-10862 NN denotes SUMF1
T7772 10863-10866 CC denotes and
T7773 10867-10868 CD denotes 1
T7774 10868-10869 SYM denotes
T7775 10869-10871 CD denotes 44
T7776 10872-10874 IN denotes of
T7777 10875-10880 NN denotes ITPR1
T7778 10880-10881 : denotes ;
T7779 10882-10884 IN denotes in
T7780 10885-10888 DT denotes the
T7781 10889-10895 JJ denotes latter
T7782 10895-10897 , denotes ,
T7783 10897-10899 PRP denotes we
T7784 10909-10913 IN denotes that
T7785 10927-10929 VBZ denotes is
T7786 10914-10917 DT denotes the
T7787 10918-10926 NN denotes deletion
T7788 10930-10933 CD denotes 310
T7789 10934-10936 NN denotes kb
T7790 10937-10939 IN denotes in
T7791 10940-10946 NN denotes length
T7792 10947-10950 CC denotes and
T7793 10951-10955 IN denotes that
T7794 10959-10966 VBZ denotes removes
T7795 10956-10958 PRP denotes it
T7796 10967-10972 NNS denotes exons
T7797 10973-10974 CD denotes 1
T7798 10974-10975 SYM denotes
T7799 10975-10976 CD denotes 3
T7800 10977-10979 IN denotes of
T7801 10980-10985 NN denotes SUMF1
T7802 10986-10989 CC denotes and
T7803 10990-10995 NNS denotes exons
T7804 10996-10997 CD denotes 1
T7805 10997-10998 SYM denotes
T7806 10998-11000 CD denotes 40
T7807 11001-11003 IN denotes of
T7808 11004-11009 NN denotes ITPR1
T7809 11009-11010 . denotes .
T7810 11010-11276 sentence denotes The site of mutation is of interest, particularly the fact that in each of the three families the telomeric end of the deletion is anchored between exons 3 and 4 of SUMF1; sequence searches failed to identify any repeat sequences that might explain this phenomenon.
T7811 11011-11014 DT denotes The
T7812 11015-11019 NN denotes site
T7813 11032-11034 VBZ denotes is
T7814 11020-11022 IN denotes of
T7815 11023-11031 NN denotes mutation
T7816 11201-11207 VBD denotes failed
T7817 11035-11037 IN denotes of
T7818 11038-11046 NN denotes interest
T7819 11046-11048 , denotes ,
T7820 11048-11060 RB denotes particularly
T7821 11065-11069 NN denotes fact
T7822 11061-11064 DT denotes the
T7823 11070-11074 IN denotes that
T7824 11142-11150 VBN denotes anchored
T7825 11075-11077 IN denotes in
T7826 11078-11082 DT denotes each
T7827 11083-11085 IN denotes of
T7828 11086-11089 DT denotes the
T7829 11096-11104 NNS denotes families
T7830 11090-11095 CD denotes three
T7831 11105-11108 DT denotes the
T7832 11119-11122 NN denotes end
T7833 11109-11118 JJ denotes telomeric
T7834 11123-11125 IN denotes of
T7835 11126-11129 DT denotes the
T7836 11130-11138 NN denotes deletion
T7837 11139-11141 VBZ denotes is
T7838 11151-11158 IN denotes between
T7839 11159-11164 NNS denotes exons
T7840 11165-11166 CD denotes 3
T7841 11167-11170 CC denotes and
T7842 11171-11172 CD denotes 4
T7843 11173-11175 IN denotes of
T7844 11176-11181 NN denotes SUMF1
T7845 11181-11182 : denotes ;
T7846 11183-11191 NN denotes sequence
T7847 11192-11200 NNS denotes searches
T7848 11208-11210 TO denotes to
T7849 11211-11219 VB denotes identify
T7850 11220-11223 DT denotes any
T7851 11231-11240 NNS denotes sequences
T7852 11224-11230 NN denotes repeat
T7853 11241-11245 WDT denotes that
T7854 11252-11259 VB denotes explain
T7855 11246-11251 MD denotes might
T7856 11260-11264 DT denotes this
T7857 11265-11275 NN denotes phenomenon
T7858 11275-11276 . denotes .
T7859 11276-11627 sentence denotes With three cerebellar ataxia families segregating a SUMF1–ITPR1 deletion, and this deletion not observed in a control population, we may reasonably conclude that the association is causal, and that the deletion is indeed the genetic basis of the disease, with SCA15 the diagnosis in the two British families as well as the original Australian family.
T7860 11277-11281 IN denotes With
T7861 11425-11433 VB denotes conclude
T7862 11282-11287 CD denotes three
T7863 11306-11314 NNS denotes families
T7864 11288-11298 JJ denotes cerebellar
T7865 11299-11305 NN denotes ataxia
T7866 11315-11326 VBG denotes segregating
T7867 11327-11328 DT denotes a
T7868 11341-11349 NN denotes deletion
T7869 11329-11334 NN denotes SUMF1
T7870 11335-11340 NN denotes ITPR1
T7871 11334-11335 HYPH denotes
T7872 11349-11351 , denotes ,
T7873 11351-11354 CC denotes and
T7874 11355-11359 DT denotes this
T7875 11360-11368 NN denotes deletion
T7876 11369-11372 RB denotes not
T7877 11373-11381 VBN denotes observed
T7878 11382-11384 IN denotes in
T7879 11385-11386 DT denotes a
T7880 11395-11405 NN denotes population
T7881 11387-11394 NN denotes control
T7882 11405-11407 , denotes ,
T7883 11407-11409 PRP denotes we
T7884 11410-11413 MD denotes may
T7885 11414-11424 RB denotes reasonably
T7886 11434-11438 IN denotes that
T7887 11455-11457 VBZ denotes is
T7888 11439-11442 DT denotes the
T7889 11443-11454 NN denotes association
T7890 11458-11464 JJ denotes causal
T7891 11464-11466 , denotes ,
T7892 11466-11469 CC denotes and
T7893 11470-11474 IN denotes that
T7894 11488-11490 VBZ denotes is
T7895 11475-11478 DT denotes the
T7896 11479-11487 NN denotes deletion
T7897 11491-11497 RB denotes indeed
T7898 11498-11501 DT denotes the
T7899 11510-11515 NN denotes basis
T7900 11502-11509 JJ denotes genetic
T7901 11516-11518 IN denotes of
T7902 11519-11522 DT denotes the
T7903 11523-11530 NN denotes disease
T7904 11530-11532 , denotes ,
T7905 11532-11536 IN denotes with
T7906 11547-11556 NN denotes diagnosis
T7907 11537-11542 NN denotes SCA15
T7908 11543-11546 DT denotes the
T7909 11557-11559 IN denotes in
T7910 11560-11563 DT denotes the
T7911 11576-11584 NNS denotes families
T7912 11564-11567 CD denotes two
T7913 11568-11575 JJ denotes British
T7914 11585-11587 RB denotes as
T7915 11593-11595 IN denotes as
T7916 11588-11592 RB denotes well
T7917 11596-11599 DT denotes the
T7918 11620-11626 NN denotes family
T7919 11600-11608 JJ denotes original
T7920 11609-11619 JJ denotes Australian
T7921 11626-11627 . denotes .
T7922 11627-11772 sentence denotes It is improbable that heterozygosity for the deletion of SUMF1, encoding sulfatase modifying factor 1, of itself causes or contributes to SCA15.
T7923 11628-11630 PRP denotes It
T7924 11631-11633 VBZ denotes is
T7925 11634-11644 JJ denotes improbable
T7926 11645-11649 IN denotes that
T7927 11741-11747 VBZ denotes causes
T7928 11650-11664 NN denotes heterozygosity
T7929 11665-11668 IN denotes for
T7930 11669-11672 DT denotes the
T7931 11673-11681 NN denotes deletion
T7932 11682-11684 IN denotes of
T7933 11685-11690 NN denotes SUMF1
T7934 11690-11692 , denotes ,
T7935 11692-11700 VBG denotes encoding
T7936 11701-11710 NN denotes sulfatase
T7937 11721-11727 NN denotes factor
T7938 11711-11720 VBG denotes modifying
T7939 11728-11729 CD denotes 1
T7940 11729-11731 , denotes ,
T7941 11731-11733 IN denotes of
T7942 11734-11740 PRP denotes itself
T7943 11748-11750 CC denotes or
T7944 11751-11762 VBZ denotes contributes
T7945 11763-11765 IN denotes to
T7946 11766-11771 NN denotes SCA15
T7947 11771-11772 . denotes .
T7948 11772-11962 sentence denotes Homozygous mutation of SUMF1 results in autosomal recessive multiple sulfatase deficiency, a metabolic disorder characterized by hepatosplenomegaly, deafness, and developmental delay [6,7].
T7949 11773-11783 JJ denotes Homozygous
T7950 11784-11792 NN denotes mutation
T7951 11802-11809 VBZ denotes results
T7952 11793-11795 IN denotes of
T7953 11796-11801 NN denotes SUMF1
T7954 11810-11812 IN denotes in
T7955 11813-11822 JJ denotes autosomal
T7956 11852-11862 NN denotes deficiency
T7957 11823-11832 JJ denotes recessive
T7958 11833-11841 JJ denotes multiple
T7959 11842-11851 NN denotes sulfatase
T7960 11862-11864 , denotes ,
T7961 11864-11865 DT denotes a
T7962 11876-11884 NN denotes disorder
T7963 11866-11875 JJ denotes metabolic
T7964 11885-11898 VBN denotes characterized
T7965 11899-11901 IN denotes by
T7966 11902-11920 NN denotes hepatosplenomegaly
T7967 11920-11922 , denotes ,
T7968 11922-11930 NN denotes deafness
T7969 11930-11932 , denotes ,
T7970 11932-11935 CC denotes and
T7971 11936-11949 JJ denotes developmental
T7972 11950-11955 NN denotes delay
T7973 11956-11957 -LRB- denotes [
T7974 11959-11960 CD denotes 7
T7975 11957-11958 CD denotes 6
T7976 11958-11959 , denotes ,
T7977 11960-11961 -RRB- denotes ]
T7978 11961-11962 . denotes .
T7979 11962-12082 sentence denotes No co-occurrence of ataxia has been described in (heterozygous) parents of patients with multiple sulfatase deficiency.
T7980 11963-11965 DT denotes No
T7981 11966-11979 NN denotes co-occurrence
T7982 11999-12008 VBN denotes described
T7983 11980-11982 IN denotes of
T7984 11983-11989 NN denotes ataxia
T7985 11990-11993 VBZ denotes has
T7986 11994-11998 VBN denotes been
T7987 12009-12011 IN denotes in
T7988 12012-12013 -LRB- denotes (
T7989 12027-12034 NNS denotes parents
T7990 12013-12025 JJ denotes heterozygous
T7991 12025-12026 -RRB- denotes )
T7992 12035-12037 IN denotes of
T7993 12038-12046 NNS denotes patients
T7994 12047-12051 IN denotes with
T7995 12052-12060 JJ denotes multiple
T7996 12071-12081 NN denotes deficiency
T7997 12061-12070 NN denotes sulfatase
T7998 12081-12082 . denotes .
T7999 12082-12423 sentence denotes Conversely, mutation of ITPR1 is biologically plausible as a cause of ataxia: the protein is highly expressed in Purkinje cells; as we have shown here, mice with mutation at this locus present with ataxia; and perturbed Ca2+ signaling has previously been implicated in the etiology of ataxia, notably in episodic ataxia type 2 and SCA6 [8].
T8000 12083-12093 RB denotes Conversely
T8001 12268-12275 VBP denotes present
T8002 12093-12095 , denotes ,
T8003 12095-12103 NN denotes mutation
T8004 12113-12115 VBZ denotes is
T8005 12104-12106 IN denotes of
T8006 12107-12112 NN denotes ITPR1
T8007 12116-12128 RB denotes biologically
T8008 12129-12138 JJ denotes plausible
T8009 12139-12141 IN denotes as
T8010 12142-12143 DT denotes a
T8011 12144-12149 NN denotes cause
T8012 12150-12152 IN denotes of
T8013 12153-12159 NN denotes ataxia
T8014 12159-12161 : denotes :
T8015 12161-12164 DT denotes the
T8016 12165-12172 NN denotes protein
T8017 12183-12192 VBN denotes expressed
T8018 12173-12175 VBZ denotes is
T8019 12176-12182 RB denotes highly
T8020 12193-12195 IN denotes in
T8021 12196-12204 NNP denotes Purkinje
T8022 12205-12210 NNS denotes cells
T8023 12210-12211 : denotes ;
T8024 12212-12214 IN denotes as
T8025 12223-12228 VBN denotes shown
T8026 12215-12217 PRP denotes we
T8027 12218-12222 VBP denotes have
T8028 12229-12233 RB denotes here
T8029 12233-12235 , denotes ,
T8030 12235-12239 NNS denotes mice
T8031 12240-12244 IN denotes with
T8032 12245-12253 NN denotes mutation
T8033 12254-12256 IN denotes at
T8034 12257-12261 DT denotes this
T8035 12262-12267 NN denotes locus
T8036 12276-12280 IN denotes with
T8037 12281-12287 NN denotes ataxia
T8038 12287-12288 : denotes ;
T8039 12289-12292 CC denotes and
T8040 12293-12302 VBN denotes perturbed
T8041 12308-12317 NN denotes signaling
T8042 12303-12307 NN denotes Ca2+
T8043 12338-12348 VBN denotes implicated
T8044 12318-12321 VBZ denotes has
T8045 12322-12332 RB denotes previously
T8046 12333-12337 VBN denotes been
T8047 12349-12351 IN denotes in
T8048 12352-12355 DT denotes the
T8049 12356-12364 NN denotes etiology
T8050 12365-12367 IN denotes of
T8051 12368-12374 NN denotes ataxia
T8052 12374-12376 , denotes ,
T8053 12376-12383 RB denotes notably
T8054 12384-12386 IN denotes in
T8055 12387-12395 JJ denotes episodic
T8056 12403-12407 NN denotes type
T8057 12396-12402 NN denotes ataxia
T8058 12408-12409 CD denotes 2
T8059 12410-12413 CC denotes and
T8060 12414-12418 NN denotes SCA6
T8061 12419-12420 -LRB- denotes [
T8062 12420-12421 CD denotes 8
T8063 12421-12422 -RRB- denotes ]
T8064 12422-12423 . denotes .
T8065 12423-12748 sentence denotes In further support of this conclusion, analysis of protein levels of ITPR1 in Epstein-Barr virus (EBV) immortalized lymphocytes from affected and unaffected AUS1 family members revealed that all affected members showed a dramatic decrease in ITPR1 levels when compared with the family member without the deletion (Figure 4).
T8066 12424-12426 IN denotes In
T8067 12601-12609 VBD denotes revealed
T8068 12427-12434 JJ denotes further
T8069 12435-12442 NN denotes support
T8070 12443-12445 IN denotes of
T8071 12446-12450 DT denotes this
T8072 12451-12461 NN denotes conclusion
T8073 12461-12463 , denotes ,
T8074 12463-12471 NN denotes analysis
T8075 12472-12474 IN denotes of
T8076 12475-12482 NN denotes protein
T8077 12483-12489 NNS denotes levels
T8078 12490-12492 IN denotes of
T8079 12493-12498 NN denotes ITPR1
T8080 12499-12501 IN denotes in
T8081 12502-12509 NN denotes Epstein
T8082 12510-12514 NN denotes Barr
T8083 12509-12510 HYPH denotes -
T8084 12515-12520 NN denotes virus
T8085 12540-12551 NNS denotes lymphocytes
T8086 12521-12522 -LRB- denotes (
T8087 12522-12525 NN denotes EBV
T8088 12525-12526 -RRB- denotes )
T8089 12527-12539 VBN denotes immortalized
T8090 12552-12556 IN denotes from
T8091 12557-12565 VBN denotes affected
T8092 12593-12600 NNS denotes members
T8093 12566-12569 CC denotes and
T8094 12570-12580 JJ denotes unaffected
T8095 12581-12585 NN denotes AUS1
T8096 12586-12592 NN denotes family
T8097 12610-12614 IN denotes that
T8098 12636-12642 VBD denotes showed
T8099 12615-12618 DT denotes all
T8100 12628-12635 NNS denotes members
T8101 12619-12627 VBN denotes affected
T8102 12643-12644 DT denotes a
T8103 12654-12662 NN denotes decrease
T8104 12645-12653 JJ denotes dramatic
T8105 12663-12665 IN denotes in
T8106 12666-12671 NN denotes ITPR1
T8107 12672-12678 NNS denotes levels
T8108 12679-12683 WRB denotes when
T8109 12684-12692 VBN denotes compared
T8110 12693-12697 IN denotes with
T8111 12698-12701 DT denotes the
T8112 12709-12715 NN denotes member
T8113 12702-12708 NN denotes family
T8114 12716-12723 IN denotes without
T8115 12724-12727 DT denotes the
T8116 12728-12736 NN denotes deletion
T8117 12737-12738 -LRB- denotes (
T8118 12738-12744 NN denotes Figure
T8119 12745-12746 CD denotes 4
T8120 12746-12747 -RRB- denotes )
T8121 12747-12748 . denotes .
T8122 12748-13550 sentence denotes Figure 4 Western Blot Analysis of ITPR1 Protein Levels in EBV Immortalized Lymphoblasts from AUS1 Family Members Western blot performed to examine ITPR1 levels in EBV immortalized lymphocytes from AUS1 affected family members carrying the ITPR1 deletion and from an AUS1 family member of unknown disease status who does not carry the deletion. Notably the samples from patients with ITPR1 deletion show a dramatic decrease in ITPR1 levels. To demonstrate equal loading, these samples were diluted one in five, and the Western blot was repeated using an antibody against ACTB. Itpr1 contains three domains, an N-terminal inositol triphosphate binding domain, a coupling domain, and a C-terminal transmembrane domain; it also contains two protein kinase A phosphorylation sites and an ATP-binding site.
T8123 13326-13331 NN denotes Itpr1
T8124 13332-13340 VBZ denotes contains
T8125 13474-13482 VBZ denotes contains
T8126 13341-13346 CD denotes three
T8127 13347-13354 NNS denotes domains
T8128 13354-13356 , denotes ,
T8129 13356-13358 DT denotes an
T8130 13400-13406 NN denotes domain
T8131 13359-13360 NN denotes N
T8132 13361-13369 JJ denotes terminal
T8133 13360-13361 HYPH denotes -
T8134 13370-13378 NN denotes inositol
T8135 13379-13391 NN denotes triphosphate
T8136 13392-13399 NN denotes binding
T8137 13406-13408 , denotes ,
T8138 13408-13409 DT denotes a
T8139 13419-13425 NN denotes domain
T8140 13410-13418 VBG denotes coupling
T8141 13425-13427 , denotes ,
T8142 13427-13430 CC denotes and
T8143 13431-13432 DT denotes a
T8144 13458-13464 NN denotes domain
T8145 13433-13434 NN denotes C
T8146 13435-13443 JJ denotes terminal
T8147 13434-13435 HYPH denotes -
T8148 13444-13457 NN denotes transmembrane
T8149 13464-13465 : denotes ;
T8150 13466-13468 PRP denotes it
T8151 13469-13473 RB denotes also
T8152 13483-13486 CD denotes two
T8153 13520-13525 NNS denotes sites
T8154 13487-13494 NN denotes protein
T8155 13502-13503 NN denotes A
T8156 13495-13501 NN denotes kinase
T8157 13504-13519 NN denotes phosphorylation
T8158 13526-13529 CC denotes and
T8159 13530-13532 DT denotes an
T8160 13545-13549 NN denotes site
T8161 13533-13536 NN denotes ATP
T8162 13537-13544 VBG denotes binding
T8163 13536-13537 HYPH denotes -
T8164 13549-13550 . denotes .
T8165 13550-13729 sentence denotes Itpr1 is coupled to Ca2+ channels and facilitates Ca2+ release from the endoplasmic reticulum after binding by the intracellular second messenger inositol 1,4,5-triphosphate [9].
T8166 13551-13556 NN denotes Itpr1
T8167 13560-13567 VBN denotes coupled
T8168 13557-13559 VBZ denotes is
T8169 13568-13570 IN denotes to
T8170 13571-13575 NN denotes Ca2+
T8171 13576-13584 NNS denotes channels
T8172 13585-13588 CC denotes and
T8173 13589-13600 VBZ denotes facilitates
T8174 13601-13605 NN denotes Ca2+
T8175 13606-13613 NN denotes release
T8176 13614-13618 IN denotes from
T8177 13619-13622 DT denotes the
T8178 13635-13644 NN denotes reticulum
T8179 13623-13634 JJ denotes endoplasmic
T8180 13645-13650 IN denotes after
T8181 13651-13658 NN denotes binding
T8182 13659-13661 IN denotes by
T8183 13662-13665 DT denotes the
T8184 13687-13696 NN denotes messenger
T8185 13666-13679 JJ denotes intracellular
T8186 13680-13686 JJ denotes second
T8187 13697-13705 NN denotes inositol
T8188 13712-13724 NN denotes triphosphate
T8189 13706-13707 CD denotes 1
T8190 13710-13711 CD denotes 5
T8191 13707-13708 , denotes ,
T8192 13708-13709 CD denotes 4
T8193 13709-13710 , denotes ,
T8194 13711-13712 HYPH denotes -
T8195 13725-13726 -LRB- denotes [
T8196 13726-13727 CD denotes 9
T8197 13727-13728 -RRB- denotes ]
T8198 13728-13729 . denotes .
T8199 13729-13792 sentence denotes Itpr1 is enriched in the Purkinje cells of the cerebellum [4].
T8200 13730-13735 NN denotes Itpr1
T8201 13739-13747 VBN denotes enriched
T8202 13736-13738 VBZ denotes is
T8203 13748-13750 IN denotes in
T8204 13751-13754 DT denotes the
T8205 13764-13769 NNS denotes cells
T8206 13755-13763 NNP denotes Purkinje
T8207 13770-13772 IN denotes of
T8208 13773-13776 DT denotes the
T8209 13777-13787 NN denotes cerebellum
T8210 13788-13789 -LRB- denotes [
T8211 13789-13790 CD denotes 4
T8212 13790-13791 -RRB- denotes ]
T8213 13791-13792 . denotes .
T8214 13792-13859 sentence denotes ITPR1 mutations have more than one potential pathogenic mechanism.
T8215 13793-13798 NN denotes ITPR1
T8216 13799-13808 NNS denotes mutations
T8217 13809-13813 VBP denotes have
T8218 13814-13818 JJR denotes more
T8219 13824-13827 CD denotes one
T8220 13819-13823 IN denotes than
T8221 13849-13858 NN denotes mechanism
T8222 13828-13837 JJ denotes potential
T8223 13838-13848 JJ denotes pathogenic
T8224 13858-13859 . denotes .
T8225 13859-14183 sentence denotes First, the disease may be a result of haploinsufficiency at ITPR1; this concept is consistent with the observation that heterozygous deletion leads to a later onset disorder in humans, whereas homozygous deletion in mice leads to an early onset disorder, able to be expressed within the much shorter life span of the mouse.
T8226 13860-13865 RB denotes First
T8227 13940-13942 VBZ denotes is
T8228 13865-13867 , denotes ,
T8229 13867-13870 DT denotes the
T8230 13871-13878 NN denotes disease
T8231 13883-13885 VB denotes be
T8232 13879-13882 MD denotes may
T8233 13886-13887 DT denotes a
T8234 13888-13894 NN denotes result
T8235 13895-13897 IN denotes of
T8236 13898-13916 NN denotes haploinsufficiency
T8237 13917-13919 IN denotes at
T8238 13920-13925 NN denotes ITPR1
T8239 13925-13926 : denotes ;
T8240 13927-13931 DT denotes this
T8241 13932-13939 NN denotes concept
T8242 13943-13953 JJ denotes consistent
T8243 13954-13958 IN denotes with
T8244 13959-13962 DT denotes the
T8245 13963-13974 NN denotes observation
T8246 13975-13979 IN denotes that
T8247 14002-14007 VBZ denotes leads
T8248 13980-13992 JJ denotes heterozygous
T8249 13993-14001 NN denotes deletion
T8250 14008-14010 IN denotes to
T8251 14011-14012 DT denotes a
T8252 14025-14033 NN denotes disorder
T8253 14013-14018 JJ denotes later
T8254 14019-14024 NN denotes onset
T8255 14034-14036 IN denotes in
T8256 14037-14043 NNS denotes humans
T8257 14043-14045 , denotes ,
T8258 14045-14052 IN denotes whereas
T8259 14081-14086 VBZ denotes leads
T8260 14053-14063 JJ denotes homozygous
T8261 14064-14072 NN denotes deletion
T8262 14073-14075 IN denotes in
T8263 14076-14080 NNS denotes mice
T8264 14087-14089 IN denotes to
T8265 14090-14092 DT denotes an
T8266 14105-14113 NN denotes disorder
T8267 14093-14098 JJ denotes early
T8268 14099-14104 NN denotes onset
T8269 14113-14115 , denotes ,
T8270 14115-14119 JJ denotes able
T8271 14120-14122 TO denotes to
T8272 14126-14135 VBN denotes expressed
T8273 14123-14125 VB denotes be
T8274 14136-14142 IN denotes within
T8275 14143-14146 DT denotes the
T8276 14165-14169 NN denotes span
T8277 14147-14151 RB denotes much
T8278 14152-14159 JJR denotes shorter
T8279 14160-14164 NN denotes life
T8280 14170-14172 IN denotes of
T8281 14173-14176 DT denotes the
T8282 14177-14182 NN denotes mouse
T8283 14182-14183 . denotes .
T8284 14183-14586 sentence denotes Second, we cannot rule out the existence of an alternate start site for ITPR1 that may result in a product that confers a pathogenic gain of function to the protein; however, Western blot analysis of cells derived from affected AUS1 family members, which was performed using an antibody raised against the C-terminal portion of ITPR1, failed to identify any disease-specific truncated protein products.
T8285 14184-14190 RB denotes Second
T8286 14519-14525 VBD denotes failed
T8287 14190-14192 , denotes ,
T8288 14192-14194 PRP denotes we
T8289 14202-14206 VB denotes rule
T8290 14195-14198 MD denotes can
T8291 14198-14201 RB denotes not
T8292 14207-14210 RP denotes out
T8293 14211-14214 DT denotes the
T8294 14215-14224 NN denotes existence
T8295 14225-14227 IN denotes of
T8296 14228-14230 DT denotes an
T8297 14247-14251 NN denotes site
T8298 14231-14240 JJ denotes alternate
T8299 14241-14246 NN denotes start
T8300 14252-14255 IN denotes for
T8301 14256-14261 NN denotes ITPR1
T8302 14262-14266 WDT denotes that
T8303 14271-14277 VB denotes result
T8304 14267-14270 MD denotes may
T8305 14278-14280 IN denotes in
T8306 14281-14282 DT denotes a
T8307 14283-14290 NN denotes product
T8308 14291-14295 WDT denotes that
T8309 14296-14303 VBZ denotes confers
T8310 14304-14305 DT denotes a
T8311 14317-14321 NN denotes gain
T8312 14306-14316 JJ denotes pathogenic
T8313 14322-14324 IN denotes of
T8314 14325-14333 NN denotes function
T8315 14334-14336 IN denotes to
T8316 14337-14340 DT denotes the
T8317 14341-14348 NN denotes protein
T8318 14348-14349 : denotes ;
T8319 14350-14357 RB denotes however
T8320 14357-14359 , denotes ,
T8321 14359-14366 NNP denotes Western
T8322 14367-14371 NN denotes blot
T8323 14372-14380 NN denotes analysis
T8324 14381-14383 IN denotes of
T8325 14384-14389 NNS denotes cells
T8326 14390-14397 VBN denotes derived
T8327 14398-14402 IN denotes from
T8328 14403-14411 VBN denotes affected
T8329 14424-14431 NNS denotes members
T8330 14412-14416 NN denotes AUS1
T8331 14417-14423 NN denotes family
T8332 14431-14433 , denotes ,
T8333 14433-14438 WDT denotes which
T8334 14443-14452 VBN denotes performed
T8335 14439-14442 VBD denotes was
T8336 14453-14458 VBG denotes using
T8337 14459-14461 DT denotes an
T8338 14462-14470 NN denotes antibody
T8339 14471-14477 VBN denotes raised
T8340 14478-14485 IN denotes against
T8341 14486-14489 DT denotes the
T8342 14501-14508 NN denotes portion
T8343 14490-14491 NN denotes C
T8344 14492-14500 JJ denotes terminal
T8345 14491-14492 HYPH denotes -
T8346 14509-14511 IN denotes of
T8347 14512-14517 NN denotes ITPR1
T8348 14517-14519 , denotes ,
T8349 14526-14528 TO denotes to
T8350 14529-14537 VB denotes identify
T8351 14538-14541 DT denotes any
T8352 14577-14585 NNS denotes products
T8353 14542-14549 NN denotes disease
T8354 14550-14558 JJ denotes specific
T8355 14549-14550 HYPH denotes -
T8356 14559-14568 VBN denotes truncated
T8357 14569-14576 NN denotes protein
T8358 14585-14586 . denotes .
T8359 14586-14722 sentence denotes Clearly, the identification of distinct ITPR1 mutations underlying SCA15 will help elucidate the pathogenic mechanism of this disorder.
T8360 14587-14594 RB denotes Clearly
T8361 14665-14669 VB denotes help
T8362 14594-14596 , denotes ,
T8363 14596-14599 DT denotes the
T8364 14600-14614 NN denotes identification
T8365 14615-14617 IN denotes of
T8366 14618-14626 JJ denotes distinct
T8367 14633-14642 NNS denotes mutations
T8368 14627-14632 NN denotes ITPR1
T8369 14643-14653 VBG denotes underlying
T8370 14654-14659 NN denotes SCA15
T8371 14660-14664 MD denotes will
T8372 14670-14679 VB denotes elucidate
T8373 14680-14683 DT denotes the
T8374 14695-14704 NN denotes mechanism
T8375 14684-14694 JJ denotes pathogenic
T8376 14705-14707 IN denotes of
T8377 14708-14712 DT denotes this
T8378 14713-14721 NN denotes disorder
T8379 14721-14722 . denotes .
T8380 14722-14824 sentence denotes We show here the utility of investigating spontaneous mouse mutations in understanding human disease.
T8381 14723-14725 PRP denotes We
T8382 14726-14730 VBP denotes show
T8383 14731-14735 RB denotes here
T8384 14736-14739 DT denotes the
T8385 14740-14747 NN denotes utility
T8386 14748-14750 IN denotes of
T8387 14751-14764 VBG denotes investigating
T8388 14765-14776 JJ denotes spontaneous
T8389 14783-14792 NNS denotes mutations
T8390 14777-14782 NN denotes mouse
T8391 14793-14795 IN denotes in
T8392 14796-14809 VBG denotes understanding
T8393 14810-14815 JJ denotes human
T8394 14816-14823 NN denotes disease
T8395 14823-14824 . denotes .
T8396 14824-15071 sentence denotes Currently, the small number of aged Itpr1wt/Δ18 animals precludes us from examining these mice for subtle signs and symptoms similar to those seen in SCA15 patients; however, these mice are clearly of interest to us as a potential model of SCA15.
T8397 14825-14834 RB denotes Currently
T8398 14881-14890 VBZ denotes precludes
T8399 14834-14836 , denotes ,
T8400 14836-14839 DT denotes the
T8401 14846-14852 NN denotes number
T8402 14840-14845 JJ denotes small
T8403 14853-14855 IN denotes of
T8404 14856-14860 VBN denotes aged
T8405 14873-14880 NNS denotes animals
T8406 14861-14868 NN denotes Itpr1wt
T8407 14869-14872 NN denotes Δ18
T8408 14868-14869 HYPH denotes /
T8409 15011-15014 VBP denotes are
T8410 14891-14893 PRP denotes us
T8411 14894-14898 IN denotes from
T8412 14899-14908 VBG denotes examining
T8413 14909-14914 DT denotes these
T8414 14915-14919 NNS denotes mice
T8415 14920-14923 IN denotes for
T8416 14924-14930 JJ denotes subtle
T8417 14931-14936 NNS denotes signs
T8418 14937-14940 CC denotes and
T8419 14941-14949 NNS denotes symptoms
T8420 14950-14957 JJ denotes similar
T8421 14958-14960 IN denotes to
T8422 14961-14966 DT denotes those
T8423 14967-14971 VBN denotes seen
T8424 14972-14974 IN denotes in
T8425 14975-14980 NN denotes SCA15
T8426 14981-14989 NNS denotes patients
T8427 14989-14990 : denotes ;
T8428 14991-14998 RB denotes however
T8429 14998-15000 , denotes ,
T8430 15000-15005 DT denotes these
T8431 15006-15010 NNS denotes mice
T8432 15015-15022 RB denotes clearly
T8433 15023-15025 IN denotes of
T8434 15026-15034 NN denotes interest
T8435 15035-15037 IN denotes to
T8436 15038-15040 PRP denotes us
T8437 15041-15043 IN denotes as
T8438 15044-15045 DT denotes a
T8439 15056-15061 NN denotes model
T8440 15046-15055 JJ denotes potential
T8441 15062-15064 IN denotes of
T8442 15065-15070 NN denotes SCA15
T8443 15070-15071 . denotes .
T8444 15071-15216 sentence denotes These data also demonstrate that genome-wide SNP assay can facilitate rapid detection of structural genomic mutations that may underlie disease.
T8445 15072-15077 DT denotes These
T8446 15078-15082 NNS denotes data
T8447 15088-15099 VBP denotes demonstrate
T8448 15083-15087 RB denotes also
T8449 15100-15104 IN denotes that
T8450 15131-15141 VB denotes facilitate
T8451 15105-15111 NN denotes genome
T8452 15112-15116 JJ denotes wide
T8453 15111-15112 HYPH denotes -
T8454 15121-15126 NN denotes assay
T8455 15117-15120 NN denotes SNP
T8456 15127-15130 MD denotes can
T8457 15142-15147 JJ denotes rapid
T8458 15148-15157 NN denotes detection
T8459 15158-15160 IN denotes of
T8460 15161-15171 JJ denotes structural
T8461 15180-15189 NNS denotes mutations
T8462 15172-15179 JJ denotes genomic
T8463 15190-15194 WDT denotes that
T8464 15199-15207 VB denotes underlie
T8465 15195-15198 MD denotes may
T8466 15208-15215 NN denotes disease
T8467 15215-15216 . denotes .
T8468 15216-15332 sentence denotes The data provided by these approaches provide compelling evidence that heterozygous deletion of ITPR1 causes SCA15.
T8469 15217-15220 DT denotes The
T8470 15221-15225 NNS denotes data
T8471 15255-15262 VBP denotes provide
T8472 15226-15234 VBN denotes provided
T8473 15235-15237 IN denotes by
T8474 15238-15243 DT denotes these
T8475 15244-15254 NNS denotes approaches
T8476 15263-15273 JJ denotes compelling
T8477 15274-15282 NN denotes evidence
T8478 15283-15287 IN denotes that
T8479 15319-15325 VBZ denotes causes
T8480 15288-15300 JJ denotes heterozygous
T8481 15301-15309 NN denotes deletion
T8482 15310-15312 IN denotes of
T8483 15313-15318 NN denotes ITPR1
T8484 15326-15331 NN denotes SCA15
T8485 15331-15332 . denotes .
T8486 15332-15724 sentence denotes Clearly, sequence analysis of ITPR1 in potential SCA15 cases may provide additional insight into the disease, particularly if a stop mutation were to be identified; however, the mutational mechanism noted here means that standard sequencing approaches alone are insufficient to confidently rule out ITPR1 mutation as a cause of disease: a comprehensive gene dosage approach is also required.
T8487 15333-15340 RB denotes Clearly
T8488 15398-15405 VB denotes provide
T8489 15340-15342 , denotes ,
T8490 15342-15350 NN denotes sequence
T8491 15351-15359 NN denotes analysis
T8492 15360-15362 IN denotes of
T8493 15363-15368 NN denotes ITPR1
T8494 15369-15371 IN denotes in
T8495 15372-15381 JJ denotes potential
T8496 15388-15393 NNS denotes cases
T8497 15382-15387 NN denotes SCA15
T8498 15394-15397 MD denotes may
T8499 15543-15548 VBZ denotes means
T8500 15406-15416 JJ denotes additional
T8501 15417-15424 NN denotes insight
T8502 15425-15429 IN denotes into
T8503 15430-15433 DT denotes the
T8504 15434-15441 NN denotes disease
T8505 15441-15443 , denotes ,
T8506 15443-15455 RB denotes particularly
T8507 15475-15479 VBD denotes were
T8508 15456-15458 IN denotes if
T8509 15459-15460 DT denotes a
T8510 15466-15474 NN denotes mutation
T8511 15461-15465 NN denotes stop
T8512 15480-15482 TO denotes to
T8513 15486-15496 VBN denotes identified
T8514 15483-15485 VB denotes be
T8515 15496-15497 : denotes ;
T8516 15498-15505 RB denotes however
T8517 15505-15507 , denotes ,
T8518 15507-15510 DT denotes the
T8519 15522-15531 NN denotes mechanism
T8520 15511-15521 JJ denotes mutational
T8521 15532-15537 VBN denotes noted
T8522 15538-15542 RB denotes here
T8523 15549-15553 IN denotes that
T8524 15715-15723 VBN denotes required
T8525 15554-15562 JJ denotes standard
T8526 15574-15584 NNS denotes approaches
T8527 15563-15573 NN denotes sequencing
T8528 15591-15594 VBP denotes are
T8529 15585-15590 RB denotes alone
T8530 15595-15607 JJ denotes insufficient
T8531 15608-15610 TO denotes to
T8532 15623-15627 VB denotes rule
T8533 15611-15622 RB denotes confidently
T8534 15628-15631 RP denotes out
T8535 15632-15637 NN denotes ITPR1
T8536 15638-15646 NN denotes mutation
T8537 15647-15649 IN denotes as
T8538 15650-15651 DT denotes a
T8539 15652-15657 NN denotes cause
T8540 15658-15660 IN denotes of
T8541 15661-15668 NN denotes disease
T8542 15668-15670 : denotes :
T8543 15670-15671 DT denotes a
T8544 15698-15706 NN denotes approach
T8545 15672-15685 JJ denotes comprehensive
T8546 15686-15690 NN denotes gene
T8547 15691-15697 NN denotes dosage
T8548 15707-15709 VBZ denotes is
T8549 15710-15714 RB denotes also
T8550 15723-15724 . denotes .
T8551 15724-15944 sentence denotes Given that SCA16 and autosomal dominant congenital nonprogressive ataxia have both recently been mapped to regions overlapping with the SCA15 locus [10,11], ITPR1 is a gene of importance for screening in these families.
T8552 15725-15730 VBN denotes Given
T8553 15888-15890 VBZ denotes is
T8554 15731-15735 IN denotes that
T8555 15822-15828 VBN denotes mapped
T8556 15736-15741 NN denotes SCA16
T8557 15742-15745 CC denotes and
T8558 15746-15755 JJ denotes autosomal
T8559 15791-15797 NN denotes ataxia
T8560 15756-15764 JJ denotes dominant
T8561 15765-15775 JJ denotes congenital
T8562 15776-15790 JJ denotes nonprogressive
T8563 15798-15802 VBP denotes have
T8564 15803-15807 DT denotes both
T8565 15808-15816 RB denotes recently
T8566 15817-15821 VBN denotes been
T8567 15829-15831 IN denotes to
T8568 15832-15839 NNS denotes regions
T8569 15840-15851 VBG denotes overlapping
T8570 15852-15856 IN denotes with
T8571 15857-15860 DT denotes the
T8572 15867-15872 NN denotes locus
T8573 15861-15866 NN denotes SCA15
T8574 15873-15874 -LRB- denotes [
T8575 15877-15879 CD denotes 11
T8576 15874-15876 CD denotes 10
T8577 15876-15877 , denotes ,
T8578 15879-15880 -RRB- denotes ]
T8579 15880-15882 , denotes ,
T8580 15882-15887 NN denotes ITPR1
T8581 15891-15892 DT denotes a
T8582 15893-15897 NN denotes gene
T8583 15898-15900 IN denotes of
T8584 15901-15911 NN denotes importance
T8585 15912-15915 IN denotes for
T8586 15916-15925 NN denotes screening
T8587 15926-15928 IN denotes in
T8588 15929-15934 DT denotes these
T8589 15935-15943 NNS denotes families
T8590 15943-15944 . denotes .
T8591 15944-16083 sentence denotes These data add weight to a role for aberrant intracellular Ca2+ signaling in Purkinje cells in the pathogenesis of spinocerebellar ataxia.
T8592 15945-15950 DT denotes These
T8593 15951-15955 NNS denotes data
T8594 15956-15959 VBP denotes add
T8595 15960-15966 NN denotes weight
T8596 15967-15969 IN denotes to
T8597 15970-15971 DT denotes a
T8598 15972-15976 NN denotes role
T8599 15977-15980 IN denotes for
T8600 15981-15989 JJ denotes aberrant
T8601 16009-16018 NN denotes signaling
T8602 15990-16003 JJ denotes intracellular
T8603 16004-16008 NN denotes Ca2+
T8604 16019-16021 IN denotes in
T8605 16022-16030 NNP denotes Purkinje
T8606 16031-16036 NNS denotes cells
T8607 16037-16039 IN denotes in
T8608 16040-16043 DT denotes the
T8609 16044-16056 NN denotes pathogenesis
T8610 16057-16059 IN denotes of
T8611 16060-16075 JJ denotes spinocerebellar
T8612 16076-16082 NN denotes ataxia
T8613 16082-16083 . denotes .
T16337 13303-13311 NN denotes antibody
T14399 2988-3008 NN denotes Immunohistochemistry
T14400 3009-3012 CC denotes and
T14401 3013-3020 NNP denotes Western
T14402 3021-3025 NN denotes Blot
T14403 3026-3034 NN denotes Analysis
T14404 3035-3037 IN denotes of
T14405 3038-3043 NN denotes ITPR1
T14406 3052-3058 NNS denotes Levels
T14407 3044-3051 NN denotes Protein
T14408 3059-3061 IN denotes in
T14409 3062-3067 NN denotes Mouse
T14410 3068-3078 NN denotes Cerebellum
T14411 3078-3277 sentence denotes (A–F) Immunohistochemistry of cerebellum from a wild-type mouse (A and D), a mouse heterozygous for the Itpr1 18-bp deletion (B and E), and a mouse homozygous for the 18-bp Itpr1 deletion (C and F).
T14412 3079-3080 -LRB- denotes (
T14413 3080-3081 LS denotes A
T14414 3085-3105 NN denotes Immunohistochemistry
T14415 3081-3082 SYM denotes
T14416 3082-3083 LS denotes F
T14417 3083-3084 -RRB- denotes )
T14418 3106-3108 IN denotes of
T14419 3109-3119 NN denotes cerebellum
T14420 3120-3124 IN denotes from
T14421 3125-3126 DT denotes a
T14422 3137-3142 NN denotes mouse
T14423 3127-3131 JJ denotes wild
T14424 3132-3136 NN denotes type
T14425 3131-3132 HYPH denotes -
T14426 3143-3144 -LRB- denotes (
T14427 3144-3145 NN denotes A
T14428 3146-3149 CC denotes and
T14429 3150-3151 NN denotes D
T14430 3151-3152 -RRB- denotes )
T14431 3152-3154 , denotes ,
T14432 3154-3155 DT denotes a
T14433 3156-3161 NN denotes mouse
T14434 3162-3174 JJ denotes heterozygous
T14435 3175-3178 IN denotes for
T14436 3179-3182 DT denotes the
T14437 3195-3203 NN denotes deletion
T14438 3183-3188 NN denotes Itpr1
T14439 3189-3191 CD denotes 18
T14440 3192-3194 NN denotes bp
T14441 3191-3192 HYPH denotes -
T14442 3204-3205 -LRB- denotes (
T14443 3205-3206 NN denotes B
T14444 3207-3210 CC denotes and
T14445 3211-3212 NN denotes E
T14446 3212-3213 -RRB- denotes )
T14447 3213-3215 , denotes ,
T14448 3215-3218 CC denotes and
T14449 3219-3220 DT denotes a
T14450 3221-3226 NN denotes mouse
T14451 3227-3237 JJ denotes homozygous
T14452 3238-3241 IN denotes for
T14453 3242-3245 DT denotes the
T14454 3258-3266 NN denotes deletion
T14455 3246-3248 CD denotes 18
T14456 3249-3251 NN denotes bp
T14457 3248-3249 HYPH denotes -
T14458 3252-3257 NN denotes Itpr1
T14459 3267-3268 -LRB- denotes (
T14460 3268-3269 NN denotes C
T14461 3270-3273 CC denotes and
T14462 3274-3275 NN denotes F
T14463 3275-3276 -RRB- denotes )
T14464 3276-3277 . denotes .
T14465 3277-3474 sentence denotes (A–C) Immunohistochemistry using polyclonal Itpr1 anti-rabbit antibody (1:2,000; Alexa Fluor 555); (D–F) immunohistochemistry using monoclonal Calb1 anti-mouse antibody (1:6,000; Alexa Fluor 488).
T14466 3278-3279 -LRB- denotes (
T14467 3279-3280 LS denotes A
T14468 3284-3304 NN denotes Immunohistochemistry
T14469 3280-3281 SYM denotes
T14470 3281-3282 LS denotes C
T14471 3282-3283 -RRB- denotes )
T14472 3305-3310 VBG denotes using
T14473 3311-3321 JJ denotes polyclonal
T14474 3340-3348 NN denotes antibody
T14475 3322-3327 NN denotes Itpr1
T14476 3328-3339 JJ denotes anti-rabbit
T14477 3349-3350 -LRB- denotes (
T14478 3365-3370 NNP denotes Fluor
T14479 3350-3351 CD denotes 1
T14480 3351-3352 SYM denotes :
T14481 3352-3357 CD denotes 2,000
T14482 3357-3358 : denotes ;
T14483 3359-3364 NNP denotes Alexa
T14484 3371-3374 CD denotes 555
T14485 3374-3375 -RRB- denotes )
T14486 3375-3376 : denotes ;
T14487 3377-3378 -LRB- denotes (
T14488 3378-3379 LS denotes D
T14489 3383-3403 NN denotes immunohistochemistry
T14490 3379-3380 SYM denotes
T14491 3380-3381 LS denotes F
T14492 3381-3382 -RRB- denotes )
T14493 3404-3409 VBG denotes using
T14494 3410-3420 JJ denotes monoclonal
T14495 3438-3446 NN denotes antibody
T14496 3421-3426 NN denotes Calb1
T14497 3427-3437 JJ denotes anti-mouse
T14498 3447-3448 -LRB- denotes (
T14499 3463-3468 NNP denotes Fluor
T14500 3448-3449 CD denotes 1
T14501 3449-3450 SYM denotes :
T14502 3450-3455 CD denotes 6,000
T14503 3455-3456 : denotes ;
T14504 3457-3462 NNP denotes Alexa
T14505 3469-3472 CD denotes 488
T14506 3472-3473 -RRB- denotes )
T14507 3473-3474 . denotes .
T14508 3474-3500 sentence denotes Scale bars denote 100 μm.
T14509 3475-3480 NN denotes Scale
T14510 3481-3485 NNS denotes bars
T14511 3486-3492 VBP denotes denote
T14512 3493-3496 CD denotes 100
T14513 3497-3499 NN denotes μm
T14514 3499-3500 . denotes .
T14515 3500-3574 sentence denotes As previously described, Iptr1 is highly expressed in the Purkinje cells.
T14516 3501-3503 IN denotes As
T14517 3515-3524 VBN denotes described
T14518 3504-3514 RB denotes previously
T14519 3542-3551 VBN denotes expressed
T14520 3524-3526 , denotes ,
T14521 3526-3531 NN denotes Iptr1
T14522 3532-3534 VBZ denotes is
T14523 3535-3541 RB denotes highly
T14524 3552-3554 IN denotes in
T14525 3555-3558 DT denotes the
T14526 3568-3573 NNS denotes cells
T14527 3559-3567 NNP denotes Purkinje
T14528 3573-3574 . denotes .
T14529 3574-3687 sentence denotes Notably, there appears to be decreased immunoreactivity to Itpr1 in the heterozygous and homozygous mutant mice.
T14530 3575-3582 RB denotes Notably
T14531 3590-3597 VBZ denotes appears
T14532 3582-3584 , denotes ,
T14533 3584-3589 EX denotes there
T14534 3598-3600 TO denotes to
T14535 3601-3603 VB denotes be
T14536 3604-3613 VBN denotes decreased
T14537 3614-3630 NN denotes immunoreactivity
T14538 3631-3633 IN denotes to
T14539 3634-3639 NN denotes Itpr1
T14540 3640-3642 IN denotes in
T14541 3643-3646 DT denotes the
T14542 3682-3686 NNS denotes mice
T14543 3647-3659 JJ denotes heterozygous
T14544 3660-3663 CC denotes and
T14545 3664-3674 JJ denotes homozygous
T14546 3675-3681 NN denotes mutant
T14547 3686-3687 . denotes .
T14548 3687-3938 sentence denotes (G) Western blot performed to examine Itpr1 levels in whole brain from wild-type, Itpr1wt/Δ18, and Itpr1Δ18/Δ18 mice; this clearly shows a reduction of Itpr1 in brain tissue from Itpr1wt/Δ18 mice and a greater reduction of Itpr1 in Itpr1Δ18/Δ18 mice.
T14549 3688-3689 -LRB- denotes (
T14550 3689-3690 LS denotes G
T14551 3819-3824 VBZ denotes shows
T14552 3690-3691 -RRB- denotes )
T14553 3692-3699 NNP denotes Western
T14554 3700-3704 NN denotes blot
T14555 3705-3714 VBN denotes performed
T14556 3715-3717 TO denotes to
T14557 3718-3725 VB denotes examine
T14558 3726-3731 NN denotes Itpr1
T14559 3732-3738 NNS denotes levels
T14560 3739-3741 IN denotes in
T14561 3742-3747 JJ denotes whole
T14562 3748-3753 NN denotes brain
T14563 3754-3758 IN denotes from
T14564 3759-3763 JJ denotes wild
T14565 3764-3768 NN denotes type
T14566 3763-3764 HYPH denotes -
T14567 3800-3804 NNS denotes mice
T14568 3768-3770 , denotes ,
T14569 3770-3777 NN denotes Itpr1wt
T14570 3778-3781 NN denotes Δ18
T14571 3777-3778 HYPH denotes /
T14572 3781-3783 , denotes ,
T14573 3783-3786 CC denotes and
T14574 3787-3795 NN denotes Itpr1Δ18
T14575 3796-3799 NN denotes Δ18
T14576 3795-3796 HYPH denotes /
T14577 3804-3805 : denotes ;
T14578 3806-3810 DT denotes this
T14579 3811-3818 RB denotes clearly
T14580 3825-3826 DT denotes a
T14581 3827-3836 NN denotes reduction
T14582 3837-3839 IN denotes of
T14583 3840-3845 NN denotes Itpr1
T14584 3846-3848 IN denotes in
T14585 3849-3854 NN denotes brain
T14586 3855-3861 NN denotes tissue
T14587 3862-3866 IN denotes from
T14588 3867-3874 NN denotes Itpr1wt
T14589 3875-3878 NN denotes Δ18
T14590 3874-3875 HYPH denotes /
T14591 3879-3883 NNS denotes mice
T14592 3884-3887 CC denotes and
T14593 3888-3889 DT denotes a
T14594 3898-3907 NN denotes reduction
T14595 3890-3897 JJR denotes greater
T14596 3908-3910 IN denotes of
T14597 3911-3916 NN denotes Itpr1
T14598 3917-3919 IN denotes in
T14599 3920-3928 NN denotes Itpr1Δ18
T14600 3929-3932 NN denotes Δ18
T14601 3928-3929 HYPH denotes /
T14602 3933-3937 NNS denotes mice
T14603 3937-3938 . denotes .
T15069 6571-6578 NNS denotes Metrics
T15070 6579-6586 VBN denotes Derived
T15071 6587-6591 IN denotes from
T15072 6592-6600 NN denotes Analysis
T15073 6601-6603 IN denotes of
T15074 6604-6607 NN denotes DNA
T15075 6608-6612 IN denotes from
T15076 6613-6621 VBN denotes Affected
T15077 6629-6635 NN denotes Member
T15078 6622-6628 NN denotes Family
T15079 6636-6637 CD denotes 7
T15080 6638-6643 VBG denotes Using
T15081 6644-6652 NNP denotes Illumina
T15082 6662-6673 NNP denotes HumanHap550
T15083 6653-6661 NNP denotes Infinium
T15084 6685-6690 NNS denotes Chips
T15085 6674-6684 NN denotes Genotyping
T15086 6690-6822 sentence denotes The upper and lower plots are log R ratio and B allele frequency, respectively, at an ~800-kb segment on the p arm of Chromosome 3.
T15087 6691-6694 DT denotes The
T15088 6711-6716 NNS denotes plots
T15089 6695-6700 JJ denotes upper
T15090 6701-6704 CC denotes and
T15091 6705-6710 JJ denotes lower
T15092 6717-6720 VBP denotes are
T15093 6721-6724 NN denotes log
T15094 6725-6726 NN denotes R
T15095 6727-6732 NN denotes ratio
T15096 6733-6736 CC denotes and
T15097 6737-6738 NN denotes B
T15098 6739-6745 NN denotes allele
T15099 6746-6755 NN denotes frequency
T15100 6755-6757 , denotes ,
T15101 6757-6769 RB denotes respectively
T15102 6769-6771 , denotes ,
T15103 6771-6773 IN denotes at
T15104 6774-6776 DT denotes an
T15105 6785-6792 NN denotes segment
T15106 6777-6778 SYM denotes ~
T15107 6778-6781 CD denotes 800
T15108 6782-6784 NN denotes kb
T15109 6781-6782 HYPH denotes -
T15110 6793-6795 IN denotes on
T15111 6796-6799 DT denotes the
T15112 6802-6805 NN denotes arm
T15113 6800-6801 NN denotes p
T15114 6806-6808 IN denotes of
T15115 6809-6819 NN denotes Chromosome
T15116 6820-6821 CD denotes 3
T15117 6821-6822 . denotes .
T15118 6822-6986 sentence denotes Log R ratio is the ratio of normalized, observed R to expected R for each SNP (each SNP is a blue dot) and thus serves as a surrogate of copy number at each locus.
T15119 6823-6826 NN denotes Log
T15120 6827-6828 NN denotes R
T15121 6829-6834 NN denotes ratio
T15122 6835-6837 VBZ denotes is
T15123 6838-6841 DT denotes the
T15124 6842-6847 NN denotes ratio
T15125 6848-6850 IN denotes of
T15126 6851-6861 VBN denotes normalized
T15127 6872-6873 NN denotes R
T15128 6861-6863 , denotes ,
T15129 6863-6871 VBN denotes observed
T15130 6874-6876 IN denotes to
T15131 6877-6885 VBN denotes expected
T15132 6886-6887 NN denotes R
T15133 6888-6891 IN denotes for
T15134 6892-6896 DT denotes each
T15135 6897-6900 NN denotes SNP
T15136 6901-6902 -LRB- denotes (
T15137 6911-6913 VBZ denotes is
T15138 6902-6906 DT denotes each
T15139 6907-6910 NN denotes SNP
T15140 6914-6915 DT denotes a
T15141 6921-6924 NN denotes dot
T15142 6916-6920 JJ denotes blue
T15143 6924-6925 -RRB- denotes )
T15144 6926-6929 CC denotes and
T15145 6930-6934 RB denotes thus
T15146 6935-6941 VBZ denotes serves
T15147 6942-6944 IN denotes as
T15148 6945-6946 DT denotes a
T15149 6947-6956 NN denotes surrogate
T15150 6957-6959 IN denotes of
T15151 6960-6964 NN denotes copy
T15152 6965-6971 NN denotes number
T15153 6972-6974 IN denotes at
T15154 6975-6979 DT denotes each
T15155 6980-6985 NN denotes locus
T15156 6985-6986 . denotes .
T15157 6986-7124 sentence denotes B allele frequency is a measure of the number of times the A or B alleles are detected at each locus (each SNP is denoted by a blue dot).
T15158 6987-6988 NN denotes B
T15159 6989-6995 NN denotes allele
T15160 6996-7005 NN denotes frequency
T15161 7006-7008 VBZ denotes is
T15162 7009-7010 DT denotes a
T15163 7011-7018 NN denotes measure
T15164 7019-7021 IN denotes of
T15165 7022-7025 DT denotes the
T15166 7026-7032 NN denotes number
T15167 7033-7035 IN denotes of
T15168 7036-7041 NNS denotes times
T15169 7042-7045 DT denotes the
T15170 7053-7060 NNS denotes alleles
T15171 7046-7047 NN denotes A
T15172 7048-7050 CC denotes or
T15173 7051-7052 NN denotes B
T15174 7065-7073 VBN denotes detected
T15175 7061-7064 VBP denotes are
T15176 7074-7076 IN denotes at
T15177 7077-7081 DT denotes each
T15178 7082-7087 NN denotes locus
T15179 7088-7089 -LRB- denotes (
T15180 7101-7108 VBN denotes denoted
T15181 7089-7093 DT denotes each
T15182 7094-7097 NN denotes SNP
T15183 7098-7100 VBZ denotes is
T15184 7109-7111 IN denotes by
T15185 7112-7113 DT denotes a
T15186 7119-7122 NN denotes dot
T15187 7114-7118 JJ denotes blue
T15188 7122-7123 -RRB- denotes )
T15189 7123-7124 . denotes .
T15190 7124-7342 sentence denotes Thus, SNPs with a B allele frequency of one are apparent B/B homozygotes, SNPs with a B allele frequency of 0.5 are apparent A/B heterozygotes, and those with a B allele frequency of zero are apparent A/A homozygotes.
T15191 7125-7129 RB denotes Thus
T15192 7237-7240 VBP denotes are
T15193 7129-7131 , denotes ,
T15194 7131-7135 NNS denotes SNPs
T15195 7169-7172 VBP denotes are
T15196 7136-7140 IN denotes with
T15197 7141-7142 DT denotes a
T15198 7152-7161 NN denotes frequency
T15199 7143-7144 NN denotes B
T15200 7145-7151 NN denotes allele
T15201 7162-7164 IN denotes of
T15202 7165-7168 CD denotes one
T15203 7173-7181 JJ denotes apparent
T15204 7186-7197 NNS denotes homozygotes
T15205 7182-7183 NN denotes B
T15206 7184-7185 NN denotes B
T15207 7183-7184 HYPH denotes /
T15208 7197-7199 , denotes ,
T15209 7199-7203 NNS denotes SNPs
T15210 7204-7208 IN denotes with
T15211 7209-7210 DT denotes a
T15212 7220-7229 NN denotes frequency
T15213 7211-7212 NN denotes B
T15214 7213-7219 NN denotes allele
T15215 7230-7232 IN denotes of
T15216 7233-7236 CD denotes 0.5
T15217 7241-7249 JJ denotes apparent
T15218 7254-7267 NNS denotes heterozygotes
T15219 7250-7251 NN denotes A
T15220 7252-7253 NN denotes B
T15221 7251-7252 HYPH denotes /
T15222 7267-7269 , denotes ,
T15223 7269-7272 CC denotes and
T15224 7273-7278 DT denotes those
T15225 7313-7316 VBP denotes are
T15226 7279-7283 IN denotes with
T15227 7284-7285 DT denotes a
T15228 7295-7304 NN denotes frequency
T15229 7286-7287 NN denotes B
T15230 7288-7294 NN denotes allele
T15231 7305-7307 IN denotes of
T15232 7308-7312 CD denotes zero
T15233 7317-7325 JJ denotes apparent
T15234 7330-7341 NNS denotes homozygotes
T15235 7326-7327 NN denotes A
T15236 7328-7329 NN denotes A
T15237 7327-7328 HYPH denotes /
T15238 7341-7342 . denotes .
T15239 7342-7478 sentence denotes Clearly, these plots show a contiguous region ~200 kb long with decreased copy number and apparent homozygosity (bounded by a red box).
T15240 7343-7350 RB denotes Clearly
T15241 7364-7368 VBP denotes show
T15242 7350-7352 , denotes ,
T15243 7352-7357 DT denotes these
T15244 7358-7363 NNS denotes plots
T15245 7369-7370 DT denotes a
T15246 7382-7388 NN denotes region
T15247 7371-7381 JJ denotes contiguous
T15248 7389-7390 SYM denotes ~
T15249 7390-7393 CD denotes 200
T15250 7394-7396 NN denotes kb
T15251 7397-7401 JJ denotes long
T15252 7402-7406 IN denotes with
T15253 7407-7416 VBN denotes decreased
T15254 7422-7428 NN denotes number
T15255 7417-7421 NN denotes copy
T15256 7429-7432 CC denotes and
T15257 7433-7441 JJ denotes apparent
T15258 7442-7454 NN denotes homozygosity
T15259 7455-7456 -LRB- denotes (
T15260 7456-7463 VBN denotes bounded
T15261 7464-7466 IN denotes by
T15262 7467-7468 DT denotes a
T15263 7473-7476 NN denotes box
T15264 7469-7472 JJ denotes red
T15265 7476-7477 -RRB- denotes )
T15266 7477-7478 . denotes .
T15267 7478-7574 sentence denotes As we have demonstrated previously, this is indicative of a heterozygous genomic deletion [15].
T15268 7479-7481 IN denotes As
T15269 7490-7502 VBN denotes demonstrated
T15270 7482-7484 PRP denotes we
T15271 7485-7489 VBP denotes have
T15272 7520-7522 VBZ denotes is
T15273 7503-7513 RB denotes previously
T15274 7513-7515 , denotes ,
T15275 7515-7519 DT denotes this
T15276 7523-7533 JJ denotes indicative
T15277 7534-7536 IN denotes of
T15278 7537-7538 DT denotes a
T15279 7560-7568 NN denotes deletion
T15280 7539-7551 JJ denotes heterozygous
T15281 7552-7559 JJ denotes genomic
T15282 7569-7570 -LRB- denotes [
T15283 7570-7572 CD denotes 15
T15284 7572-7573 -RRB- denotes ]
T15285 7573-7574 . denotes .
T15286 7574-7674 sentence denotes Below these plots is a schematic of the two known genes affected by this deletion, ITPR1 and SUMF1.
T15287 7575-7580 IN denotes Below
T15288 7593-7595 VBZ denotes is
T15289 7581-7586 DT denotes these
T15290 7587-7592 NNS denotes plots
T15291 7596-7597 DT denotes a
T15292 7598-7607 NN denotes schematic
T15293 7608-7610 IN denotes of
T15294 7611-7614 DT denotes the
T15295 7625-7630 NNS denotes genes
T15296 7615-7618 CD denotes two
T15297 7619-7624 VBN denotes known
T15298 7631-7639 VBN denotes affected
T15299 7640-7642 IN denotes by
T15300 7643-7647 DT denotes this
T15301 7648-7656 NN denotes deletion
T15302 7656-7658 , denotes ,
T15303 7658-7663 NN denotes ITPR1
T15304 7664-7667 CC denotes and
T15305 7668-7673 NN denotes SUMF1
T15306 7673-7674 . denotes .
T16338 13312-13319 IN denotes against
T15781 7685-7693 NN denotes Mutation
T15782 7694-7702 NN denotes Analysis
T15783 7703-7705 IN denotes in
T15784 7706-7709 DT denotes the
T15785 7727-7733 NN denotes Family
T15786 7710-7720 JJ denotes Australian
T15787 7721-7726 NN denotes SCA15
T15788 7733-7760 sentence denotes (Top) Pedigree of kindred.
T15789 7734-7735 -LRB- denotes (
T15790 7735-7738 NN denotes Top
T15791 7740-7748 NN denotes Pedigree
T15792 7738-7739 -RRB- denotes )
T15793 7749-7751 IN denotes of
T15794 7752-7759 NN denotes kindred
T15795 7759-7760 . denotes .
T15796 7760-7929 sentence denotes Filled symbols denote affected individuals; open symbols, unaffected individuals; grey symbol denotes unknown disease status; bulls-eye symbol denotes obligate carrier.
T15797 7761-7767 VBN denotes Filled
T15798 7768-7775 NNS denotes symbols
T15799 7776-7782 VBP denotes denote
T15800 7904-7911 VBZ denotes denotes
T15801 7783-7791 VBN denotes affected
T15802 7792-7803 NNS denotes individuals
T15803 7803-7804 : denotes ;
T15804 7805-7809 JJ denotes open
T15805 7810-7817 NNS denotes symbols
T15806 7830-7841 NNS denotes individuals
T15807 7817-7819 , denotes ,
T15808 7819-7829 JJ denotes unaffected
T15809 7841-7842 : denotes ;
T15810 7843-7847 JJ denotes grey
T15811 7848-7854 NN denotes symbol
T15812 7855-7862 VBZ denotes denotes
T15813 7863-7870 JJ denotes unknown
T15814 7879-7885 NN denotes status
T15815 7871-7878 NN denotes disease
T15816 7885-7886 : denotes ;
T15817 7887-7892 NN denotes bulls
T15818 7893-7896 NN denotes eye
T15819 7892-7893 HYPH denotes -
T15820 7897-7903 NN denotes symbol
T15821 7912-7920 JJ denotes obligate
T15822 7921-7928 NN denotes carrier
T15823 7928-7929 . denotes .
T15824 7929-8003 sentence denotes w/w, wild-type at ITPR1; w/m, heterozygous carrier of the ITPR1 deletion.
T15825 7930-7931 NN denotes w
T15826 7932-7933 NN denotes w
T15827 7931-7932 HYPH denotes /
T15828 7933-7935 , denotes ,
T15829 7935-7939 JJ denotes wild
T15830 7940-7944 NN denotes type
T15831 7939-7940 HYPH denotes -
T15832 7945-7947 IN denotes at
T15833 7948-7953 NN denotes ITPR1
T15834 7953-7954 : denotes ;
T15835 7955-7956 NN denotes w
T15836 7957-7958 NN denotes m
T15837 7956-7957 HYPH denotes /
T15838 7958-7960 , denotes ,
T15839 7960-7972 JJ denotes heterozygous
T15840 7973-7980 NN denotes carrier
T15841 7981-7983 IN denotes of
T15842 7984-7987 DT denotes the
T15843 7994-8002 NN denotes deletion
T15844 7988-7993 NN denotes ITPR1
T15845 8002-8003 . denotes .
T15846 8003-8151 sentence denotes (Middle) Schematic of primer pairs used to narrow the unknown regions between known deleted sequence and known diploid sequence at the SCA15 locus.
T15847 8004-8005 -LRB- denotes (
T15848 8005-8011 NN denotes Middle
T15849 8013-8022 JJ denotes Schematic
T15850 8011-8012 -RRB- denotes )
T15851 8023-8025 IN denotes of
T15852 8026-8032 NN denotes primer
T15853 8033-8038 NNS denotes pairs
T15854 8039-8043 VBN denotes used
T15855 8044-8046 TO denotes to
T15856 8047-8053 VB denotes narrow
T15857 8054-8057 DT denotes the
T15858 8066-8073 NNS denotes regions
T15859 8058-8065 JJ denotes unknown
T15860 8074-8081 IN denotes between
T15861 8082-8087 VBN denotes known
T15862 8096-8104 NN denotes sequence
T15863 8088-8095 VBN denotes deleted
T15864 8105-8108 CC denotes and
T15865 8109-8114 VBN denotes known
T15866 8123-8131 NN denotes sequence
T15867 8115-8122 JJ denotes diploid
T15868 8132-8134 IN denotes at
T15869 8135-8138 DT denotes the
T15870 8145-8150 NN denotes locus
T15871 8139-8144 NN denotes SCA15
T15872 8150-8151 . denotes .
T15873 8151-8376 sentence denotes Nine primer pairs (T1–T9) were used to amplify across the unknown region telomeric to the known deleted region; 19 primer pairs (C1–C19) were used to amplify across the unknown region centromeric to the known deleted region.
T15874 8152-8156 CD denotes Nine
T15875 8164-8169 NNS denotes pairs
T15876 8157-8163 NN denotes primer
T15877 8183-8187 VBN denotes used
T15878 8170-8171 -LRB- denotes (
T15879 8171-8173 NN denotes T1
T15880 8173-8174 SYM denotes
T15881 8174-8176 NN denotes T9
T15882 8176-8177 -RRB- denotes )
T15883 8178-8182 VBD denotes were
T15884 8294-8298 VBN denotes used
T15885 8188-8190 TO denotes to
T15886 8191-8198 VB denotes amplify
T15887 8199-8205 IN denotes across
T15888 8206-8209 DT denotes the
T15889 8218-8224 NN denotes region
T15890 8210-8217 JJ denotes unknown
T15891 8225-8234 JJ denotes telomeric
T15892 8235-8237 IN denotes to
T15893 8238-8241 DT denotes the
T15894 8256-8262 NN denotes region
T15895 8242-8247 VBN denotes known
T15896 8248-8255 VBN denotes deleted
T15897 8262-8263 : denotes ;
T15898 8264-8266 CD denotes 19
T15899 8274-8279 NNS denotes pairs
T15900 8267-8273 NN denotes primer
T15901 8280-8281 -LRB- denotes (
T15902 8281-8283 NN denotes C1
T15903 8283-8284 SYM denotes
T15904 8284-8287 NN denotes C19
T15905 8287-8288 -RRB- denotes )
T15906 8289-8293 VBD denotes were
T15907 8299-8301 TO denotes to
T15908 8302-8309 VB denotes amplify
T15909 8310-8316 IN denotes across
T15910 8317-8320 DT denotes the
T15911 8329-8335 NN denotes region
T15912 8321-8328 JJ denotes unknown
T15913 8336-8347 JJ denotes centromeric
T15914 8348-8350 IN denotes to
T15915 8351-8354 DT denotes the
T15916 8369-8375 NN denotes region
T15917 8355-8360 VBN denotes known
T15918 8361-8368 VBN denotes deleted
T15919 8375-8376 . denotes .
T15920 8376-8440 sentence denotes All PCRs were carried out in the three affected family members.
T15921 8377-8380 DT denotes All
T15922 8381-8385 NNS denotes PCRs
T15923 8391-8398 VBN denotes carried
T15924 8386-8390 VBD denotes were
T15925 8399-8402 RP denotes out
T15926 8403-8405 IN denotes in
T15927 8406-8409 DT denotes the
T15928 8432-8439 NNS denotes members
T15929 8410-8415 CD denotes three
T15930 8416-8424 VBN denotes affected
T15931 8425-8431 NN denotes family
T15932 8439-8440 . denotes .
T15933 8440-8683 sentence denotes Analysis of these data narrowed the unknown region, and ultimately we were able to use primer T3f and C11r to amplify across the deletion breakpoint in the three affected family members, producing a fragment of 953 bp in affected individuals.
T15934 8441-8449 NN denotes Analysis
T15935 8464-8472 VBD denotes narrowed
T15936 8450-8452 IN denotes of
T15937 8453-8458 DT denotes these
T15938 8459-8463 NNS denotes data
T15939 8473-8476 DT denotes the
T15940 8485-8491 NN denotes region
T15941 8477-8484 JJ denotes unknown
T15942 8491-8493 , denotes ,
T15943 8493-8496 CC denotes and
T15944 8497-8507 RB denotes ultimately
T15945 8511-8515 VBD denotes were
T15946 8508-8510 PRP denotes we
T15947 8516-8520 JJ denotes able
T15948 8521-8523 TO denotes to
T15949 8524-8527 VB denotes use
T15950 8528-8534 NN denotes primer
T15951 8535-8538 NN denotes T3f
T15952 8539-8542 CC denotes and
T15953 8543-8547 NN denotes C11r
T15954 8548-8550 TO denotes to
T15955 8551-8558 VB denotes amplify
T15956 8559-8565 IN denotes across
T15957 8566-8569 DT denotes the
T15958 8579-8589 NN denotes breakpoint
T15959 8570-8578 NN denotes deletion
T15960 8590-8592 IN denotes in
T15961 8593-8596 DT denotes the
T15962 8619-8626 NNS denotes members
T15963 8597-8602 CD denotes three
T15964 8603-8611 VBN denotes affected
T15965 8612-8618 NN denotes family
T15966 8626-8628 , denotes ,
T15967 8628-8637 VBG denotes producing
T15968 8638-8639 DT denotes a
T15969 8640-8648 NN denotes fragment
T15970 8649-8651 IN denotes of
T15971 8652-8655 CD denotes 953
T15972 8656-8658 NN denotes bp
T15973 8659-8661 IN denotes in
T15974 8662-8670 VBN denotes affected
T15975 8671-8682 NNS denotes individuals
T15976 8682-8683 . denotes .
T15977 8683-8939 sentence denotes (Bottom) Gel showing amplification product using primer pair T3f and C11r from affected pedigree members 6, 7, and 19; in pedigree member 23, with unknown disease affection status; in a neurologically normal control (C); and in a no template control (NC).
T15978 8684-8685 -LRB- denotes (
T15979 8685-8691 NN denotes Bottom
T15980 8693-8696 NN denotes Gel
T15981 8691-8692 -RRB- denotes )
T15982 8697-8704 VBG denotes showing
T15983 8705-8718 NN denotes amplification
T15984 8719-8726 NN denotes product
T15985 8727-8732 VBG denotes using
T15986 8733-8739 NN denotes primer
T15987 8740-8744 NN denotes pair
T15988 8745-8748 NN denotes T3f
T15989 8749-8752 CC denotes and
T15990 8753-8757 NN denotes C11r
T15991 8758-8762 IN denotes from
T15992 8763-8771 VBN denotes affected
T15993 8789-8790 CD denotes 6
T15994 8772-8780 NN denotes pedigree
T15995 8781-8788 NNS denotes members
T15996 8790-8792 , denotes ,
T15997 8792-8793 CD denotes 7
T15998 8793-8795 , denotes ,
T15999 8795-8798 CC denotes and
T16000 8799-8801 CD denotes 19
T16001 8801-8802 : denotes ;
T16002 8803-8805 IN denotes in
T16003 8806-8814 NN denotes pedigree
T16004 8815-8821 NN denotes member
T16005 8822-8824 CD denotes 23
T16006 8824-8826 , denotes ,
T16007 8826-8830 IN denotes with
T16008 8831-8838 JJ denotes unknown
T16009 8857-8863 NN denotes status
T16010 8839-8846 NN denotes disease
T16011 8847-8856 NN denotes affection
T16012 8863-8864 : denotes ;
T16013 8865-8867 IN denotes in
T16014 8868-8869 DT denotes a
T16015 8892-8899 NN denotes control
T16016 8870-8884 RB denotes neurologically
T16017 8885-8891 JJ denotes normal
T16018 8900-8901 -LRB- denotes (
T16019 8901-8902 NN denotes C
T16020 8902-8903 -RRB- denotes )
T16021 8903-8904 : denotes ;
T16022 8905-8908 CC denotes and
T16023 8909-8911 IN denotes in
T16024 8912-8913 DT denotes a
T16025 8926-8933 NN denotes control
T16026 8914-8916 DT denotes no
T16027 8917-8925 NN denotes template
T16028 8934-8935 -LRB- denotes (
T16029 8935-8937 NN denotes NC
T16030 8937-8938 -RRB- denotes )
T16031 8938-8939 . denotes .
T16245 12759-12766 NNP denotes Western
T16246 12767-12771 NN denotes Blot
T16247 12772-12780 NN denotes Analysis
T16248 12781-12783 IN denotes of
T16249 12784-12789 NN denotes ITPR1
T16250 12798-12804 NNS denotes Levels
T16251 12790-12797 NN denotes Protein
T16252 12805-12807 IN denotes in
T16253 12808-12811 NN denotes EBV
T16254 12825-12837 NNS denotes Lymphoblasts
T16255 12812-12824 VBN denotes Immortalized
T16256 12838-12842 IN denotes from
T16257 12843-12847 NN denotes AUS1
T16258 12855-12862 NNS denotes Members
T16259 12848-12854 NN denotes Family
T16260 12862-13093 sentence denotes Western blot performed to examine ITPR1 levels in EBV immortalized lymphocytes from AUS1 affected family members carrying the ITPR1 deletion and from an AUS1 family member of unknown disease status who does not carry the deletion.
T16261 12863-12870 NNP denotes Western
T16262 12871-12875 NN denotes blot
T16263 12876-12885 VBN denotes performed
T16264 12886-12888 TO denotes to
T16265 12889-12896 VB denotes examine
T16266 12897-12902 NN denotes ITPR1
T16267 12903-12909 NNS denotes levels
T16268 12910-12912 IN denotes in
T16269 12913-12916 NN denotes EBV
T16270 12930-12941 NNS denotes lymphocytes
T16271 12917-12929 VBN denotes immortalized
T16272 12942-12946 IN denotes from
T16273 12947-12951 NN denotes AUS1
T16274 12952-12960 VBN denotes affected
T16275 12968-12975 NNS denotes members
T16276 12961-12967 NN denotes family
T16277 12976-12984 VBG denotes carrying
T16278 12985-12988 DT denotes the
T16279 12995-13003 NN denotes deletion
T16280 12989-12994 NN denotes ITPR1
T16281 13004-13007 CC denotes and
T16282 13008-13012 IN denotes from
T16283 13013-13015 DT denotes an
T16284 13028-13034 NN denotes member
T16285 13016-13020 NN denotes AUS1
T16286 13021-13027 NN denotes family
T16287 13035-13037 IN denotes of
T16288 13038-13045 JJ denotes unknown
T16289 13054-13060 NN denotes status
T16290 13046-13053 NN denotes disease
T16291 13061-13064 WP denotes who
T16292 13074-13079 VB denotes carry
T16293 13065-13069 VBZ denotes does
T16294 13070-13073 RB denotes not
T16295 13080-13083 DT denotes the
T16296 13084-13092 NN denotes deletion
T16297 13092-13093 . denotes .
T16298 13093-13189 sentence denotes Notably the samples from patients with ITPR1 deletion show a dramatic decrease in ITPR1 levels.
T16299 13094-13101 RB denotes Notably
T16300 13148-13152 VBP denotes show
T16301 13102-13105 DT denotes the
T16302 13106-13113 NNS denotes samples
T16303 13114-13118 IN denotes from
T16304 13119-13127 NNS denotes patients
T16305 13128-13132 IN denotes with
T16306 13133-13138 NN denotes ITPR1
T16307 13139-13147 NN denotes deletion
T16308 13153-13154 DT denotes a
T16309 13164-13172 NN denotes decrease
T16310 13155-13163 JJ denotes dramatic
T16311 13173-13175 IN denotes in
T16312 13176-13181 NN denotes ITPR1
T16313 13182-13188 NNS denotes levels
T16314 13188-13189 . denotes .
T16315 13189-13325 sentence denotes To demonstrate equal loading, these samples were diluted one in five, and the Western blot was repeated using an antibody against ACTB.
T16316 13190-13192 TO denotes To
T16317 13193-13204 VB denotes demonstrate
T16318 13239-13246 VBN denotes diluted
T16319 13205-13210 JJ denotes equal
T16320 13211-13218 NN denotes loading
T16321 13218-13220 , denotes ,
T16322 13220-13225 DT denotes these
T16323 13226-13233 NNS denotes samples
T16324 13234-13238 VBD denotes were
T16325 13247-13250 CD denotes one
T16326 13251-13253 IN denotes in
T16327 13254-13258 CD denotes five
T16328 13258-13260 , denotes ,
T16329 13260-13263 CC denotes and
T16330 13264-13267 DT denotes the
T16331 13276-13280 NN denotes blot
T16332 13268-13275 NNP denotes Western
T16333 13285-13293 VBN denotes repeated
T16334 13281-13284 VBD denotes was
T16335 13294-13299 VBG denotes using
T16336 13300-13302 DT denotes an
T16339 13320-13324 NN denotes ACTB
T16340 13324-13325 . denotes .
R406 T6363 T6364 prep During,noted
R408 T6365 T6366 det the,generation
R409 T6366 T6363 pobj generation,During
R410 T6474 T6473 prep at,presented
R411 T6475 T6476 advmod approximately,day
R412 T6476 T6474 pobj day,at
R413 T6477 T6476 amod postnatal,day
R414 T6367 T6366 prep of,generation
R415 T6368 T6369 det a,line
R416 T6478 T6476 nummod 14,day
R417 T6369 T6367 pobj line,of
R418 T6370 T6369 prep of,line
R419 T6371 T6370 pobj mice,of
R420 T6479 T6473 punct ", ",presented
R421 T6372 T6371 prep with,mice
R422 T6373 T6372 pobj knockout,with
R423 T6374 T6373 prep of,knockout
R424 T6480 T6473 cc and,presented
R425 T6375 T6376 det the,gene
R426 T6376 T6374 pobj gene,of
R427 T6481 T6482 compound survival,time
R428 T6377 T6376 appos Park7,gene
R429 T6378 T6364 nsubj we,noted
R430 T6379 T6380 det an,disorder
R431 T6380 T6364 dobj disorder,noted
R432 T6482 T6483 nsubj time,was
R433 T6381 T6380 amod early,disorder
R434 T6382 T6380 compound movement,disorder
R435 T6383 T6384 dep that,inherited
R436 T6483 T6473 conj was,presented
R437 T6384 T6380 relcl inherited,disorder
R438 T6385 T6384 auxpass was,inherited
R439 T6386 T6384 advmod independently,inherited
R440 T6484 T6482 prep without,time
R441 T6387 T6386 prep of,independently
R442 T6388 T6389 compound targeting,vector
R443 T6389 T6390 compound vector,transmission
R444 T6485 T6484 pobj weaning,without
R445 T6390 T6387 pobj transmission,of
R446 T6391 T6364 punct .,noted
R447 T6393 T6394 poss Our,observations
R448 T6394 T6396 nsubj observations,suggested
R449 T6395 T6394 amod initial,observations
R450 T6397 T6398 det the,mice
R451 T6398 T6400 nsubj mice,suffered
R452 T6486 T6483 prep on,was
R453 T6399 T6398 amod affected,mice
R454 T6400 T6396 advcl suffered,suggested
R455 T6401 T6400 prep from,suffered
R456 T6402 T6403 det an,disorder
R457 T6487 T6486 amod average,on
R458 T6403 T6401 pobj disorder,from
R459 T6404 T6405 advmod apparently,paroxysmal
R460 T6405 T6403 amod paroxysmal,disorder
R461 T6488 T6489 nummod 4,wk
R462 T6406 T6403 compound movement,disorder
R463 T6407 T6403 punct ", ",disorder
R464 T6408 T6409 advmod often,induced
R465 T6489 T6490 npadvmod wk,after
R466 T6409 T6403 acl induced,disorder
R467 T6410 T6409 prep by,induced
R468 T6411 T6410 pobj touch,by
R469 T6490 T6483 prep after,was
R470 T6412 T6396 punct .,suggested
R471 T6491 T6490 pobj onset,after
R472 T6414 T6415 det The,movements
R473 T6492 T6483 punct .,was
R474 T6415 T6417 nsubj movements,occurred
R475 T6416 T6415 amod abnormal,movements
R476 T6494 T6495 compound Breeding,experiments
R477 T6418 T6417 advmod predominantly,occurred
R478 T6419 T6417 prep below,occurred
R479 T6420 T6421 det the,level
R480 T6495 T6496 nsubj experiments,suggested
R481 T6421 T6419 pobj level,below
R482 T6422 T6421 amod cervical,level
R483 T6423 T6417 punct ", ",occurred
R484 T6497 T6498 mark that,inherited
R485 T6424 T6417 cc and,occurred
R486 T6425 T6426 det the,disorder
R487 T6426 T6427 nsubj disorder,appeared
R488 T6498 T6496 ccomp inherited,suggested
R489 T6427 T6417 conj appeared,occurred
R490 T6428 T6427 oprd progressive,appeared
R491 T6429 T6427 punct .,appeared
R492 T6499 T6500 det the,disorder
R493 T6431 T6432 prep At,likened
R494 T6500 T6498 nsubjpass disorder,inherited
R495 T6433 T6434 amod initial,examination
R496 T6434 T6431 pobj examination,At
R497 T6435 T6432 punct ", ",likened
R498 T6501 T6500 amod observed,disorder
R499 T6436 T6437 det a,specialist
R500 T6437 T6432 nsubj specialist,likened
R501 T6438 T6439 amod human,disorder
R502 T6439 T6437 compound disorder,specialist
R503 T6440 T6439 compound movement,disorder
R504 T6502 T6498 auxpass was,inherited
R505 T6441 T6442 punct (,H.
R506 T6442 T6437 parataxis H.,specialist
R507 T6443 T6442 compound K.,H.
R508 T6444 T6442 compound G.,H.
R509 T6503 T6498 prep in,inherited
R510 T6445 T6442 punct -,H.
R511 T6446 T6442 punct ),H.
R512 T6447 T6448 det the,disorder
R513 T6504 T6505 det an,manner
R514 T6448 T6432 dobj disorder,likened
R515 T6449 T6432 prep to,likened
R516 T6450 T6451 amod episodic,ataxia
R517 T6505 T6503 pobj manner,in
R518 T6451 T6449 pobj ataxia,to
R519 T6452 T6451 amod intermittent,ataxia
R520 T6453 T6451 cc or,ataxia
R521 T6506 T6505 amod autosomal,manner
R522 T6454 T6455 amod kinesiogenic,dystonia
R523 T6455 T6451 conj dystonia,ataxia
R524 T6456 T6455 amod paroxysmal,dystonia
R525 T6507 T6505 amod recessive,manner
R526 T6457 T6432 cc and,likened
R527 T6458 T6432 conj predicted,likened
R528 T6459 T6460 det the,involvement
R529 T6508 T6496 punct .,suggested
R530 T6460 T6458 dobj involvement,predicted
R531 T6461 T6460 prep of,involvement
R532 T6510 T6511 aux To,map
R533 T6462 T6463 det an,mutation
R534 T6463 T6461 pobj mutation,of
R535 T6464 T6463 compound ion,mutation
R536 T6465 T6463 compound channel,mutation
R537 T6466 T6460 prep in,involvement
R538 T6511 T6512 advcl map,performed
R539 T6467 T6468 det the,etiology
R540 T6468 T6466 pobj etiology,in
R541 T6513 T6514 det the,location
R542 T6469 T6432 punct .,likened
R543 T6471 T6472 amod Affected,mice
R544 T6472 T6473 nsubj mice,presented
R545 T6514 T6511 dobj location,map
R546 T6515 T6514 prep of,location
R547 T6516 T6517 det the,lesion
R548 T6517 T6515 pobj lesion,of
R549 T6518 T6519 npadvmod disease,causing
R550 T6579 T6580 det The,haplotype
R551 T6519 T6517 amod causing,lesion
R552 T6580 T6582 nsubj haplotype,suggested
R553 T6581 T6580 amod linked,haplotype
R554 T6583 T6584 det the,mutation
R555 T6584 T6585 nsubj mutation,occurred
R556 T6520 T6519 punct -,causing
R557 T6585 T6582 advcl occurred,suggested
R558 T6586 T6585 aux had,occurred
R559 T6521 T6512 punct ", ",performed
R560 T6587 T6585 prep on,occurred
R561 T6588 T6589 det the,background
R562 T6522 T6512 nsubj we,performed
R563 T6589 T6587 pobj background,on
R564 T6523 T6524 npadvmod genome,wide
R565 T6590 T6591 compound 129x1,SvJ
R566 T6591 T6589 compound SvJ,background
R567 T6524 T6526 amod wide,analysis
R568 T6592 T6591 punct /,SvJ
R569 T6593 T6594 punct (,S1
R570 T6594 T6582 parataxis S1,suggested
R571 T6525 T6524 punct -,wide
R572 T6595 T6594 compound Figure,S1
R573 T6596 T6594 punct ),S1
R574 T6597 T6582 punct .,suggested
R575 T6526 T6512 dobj analysis,performed
R576 T6599 T6600 compound Literature,searches
R577 T6600 T6601 nsubj searches,revealed
R578 T6527 T6526 compound linkage,analysis
R579 T6602 T6603 mark that,displays
R580 T6528 T6512 advcl using,performed
R581 T6603 T6601 ccomp displays,revealed
R582 T6604 T6603 prep among,displays
R583 T6605 T6606 compound disease,lines
R584 T6529 T6530 npadvmod strain,specific
R585 T6606 T6604 pobj lines,among
R586 T6607 T6606 acl mapped,lines
R587 T6608 T6607 prep to,mapped
R588 T6530 T6532 amod specific,polymorphisms
R589 T6609 T6608 pobj 6qE1,to
R590 T6610 T6603 punct ", ",displays
R591 T6531 T6530 punct -,specific
R592 T6611 T6612 det the,mutant
R593 T6612 T6603 nsubj mutant,displays
R594 T6613 T6612 amod spontaneous,mutant
R595 T6532 T6528 dobj polymorphisms,using
R596 T6614 T6615 compound opt,mouse
R597 T6615 T6612 appos mouse,mutant
R598 T6616 T6617 det a,presentation
R599 T6617 T6603 dobj presentation,displays
R600 T6533 T6534 amod single,nucleotide
R601 T6618 T6619 advmod strikingly,similar
R602 T6619 T6617 amod similar,presentation
R603 T6534 T6532 compound nucleotide,polymorphisms
R604 T6620 T6617 prep to,presentation
R605 T6621 T6620 pobj that,to
R606 T6622 T6621 acl described,that
R607 T6623 T6622 advmod here,described
R608 T6535 T6532 punct (,polymorphisms
R609 T6624 T6625 punct [,1
R610 T6625 T6601 parataxis 1,revealed
R611 T6626 T6625 punct ],1
R612 T6627 T6601 punct .,revealed
R613 T6536 T6532 appos SNPs,polymorphisms
R614 T6537 T6528 punct ),using
R615 T6629 T6630 det The,lesion
R616 T6630 T6633 nsubj lesion,is
R617 T6631 T6630 amod underlying,lesion
R618 T6632 T6630 amod genetic,lesion
R619 T6538 T6528 prep at,using
R620 T6634 T6630 acl causing,lesion
R621 T6539 T6540 nummod 120,loci
R622 T6635 T6636 det the,phenotype
R623 T6636 T6634 dobj phenotype,causing
R624 T6637 T6636 compound opt,phenotype
R625 T6540 T6538 pobj loci,at
R626 T6638 T6639 det a,deletion
R627 T6639 T6633 attr deletion,is
R628 T6640 T6639 amod homozygous,deletion
R629 T6641 T6642 nmod in,frame
R630 T6541 T6528 prep across,using
R631 T6642 T6639 compound frame,deletion
R632 T6643 T6642 punct -,frame
R633 T6542 T6543 det the,genome
R634 T6644 T6639 prep of,deletion
R635 T6645 T6646 nmod exons,43
R636 T6646 T6644 pobj 43,of
R637 T6543 T6541 pobj genome,across
R638 T6647 T6646 cc and,43
R639 T6648 T6646 conj 44,43
R640 T6649 T6646 prep of,43
R641 T6544 T6543 compound mouse,genome
R642 T6650 T6651 det the,Itpr1
R643 T6651 T6649 pobj Itpr1,of
R644 T6652 T6651 compound gene,Itpr1
R645 T6545 T6512 punct .,performed
R646 T6653 T6654 punct (,opt
R647 T6654 T6651 parataxis opt,Itpr1
R648 T6655 T6654 compound Itpr1opt,opt
R649 T6547 T6548 nsubj Analysis,showed
R650 T6656 T6654 punct /,opt
R651 T6657 T6654 punct ),opt
R652 T6658 T6646 punct ", ",43
R653 T6659 T6646 acl encoding,43
R654 T6549 T6547 prep of,Analysis
R655 T6660 T6661 nmod inositol,receptor
R656 T6661 T6659 dobj receptor,encoding
R657 T6662 T6663 nummod 1,5
R658 T6663 T6667 nummod 5,triphosphate
R659 T6664 T6663 punct ",",5
R660 T6665 T6663 nummod 4,5
R661 T6666 T6663 punct ",",5
R662 T6667 T6661 compound triphosphate,receptor
R663 T6668 T6667 punct -,triphosphate
R664 T6550 T6551 det these,data
R665 T6669 T6661 nummod 1,receptor
R666 T6670 T6671 punct (,Itpr1
R667 T6671 T6661 parataxis Itpr1,receptor
R668 T6551 T6549 pobj data,of
R669 T6672 T6671 punct ),Itpr1
R670 T6673 T6633 punct .,is
R671 T6552 T6553 det a,region
R672 T6675 T6676 nsubj Sequencing,revealed
R673 T6553 T6548 dobj region,showed
R674 T6677 T6675 prep of,Sequencing
R675 T6554 T6553 amod single,region
R676 T6678 T6679 det all,exons
R677 T6679 T6677 pobj exons,of
R678 T6555 T6553 amod genomic,region
R679 T6680 T6679 cc and,exons
R680 T6681 T6682 compound intron,exon
R681 T6682 T6684 compound exon,boundaries
R682 T6556 T6553 prep with,region
R683 T6683 T6682 punct –,exon
R684 T6557 T6558 amod significant,linkage
R685 T6558 T6556 pobj linkage,with
R686 T6684 T6679 conj boundaries,exons
R687 T6559 T6558 prep to,linkage
R688 T6685 T6684 prep of,boundaries
R689 T6686 T6685 pobj Itpr1,of
R690 T6560 T6559 pobj disease,to
R691 T6687 T6679 prep in,exons
R692 T6688 T6689 amod affected,mice
R693 T6561 T6548 punct ", ",showed
R694 T6689 T6687 pobj mice,in
R695 T6690 T6689 prep from,mice
R696 T6562 T6548 advcl providing,showed
R697 T6691 T6692 det the,study
R698 T6692 T6690 pobj study,from
R699 T6693 T6692 amod current,study
R700 T6563 T6564 det a,score
R701 T6694 T6695 det a,mutation
R702 T6695 T6676 dobj mutation,revealed
R703 T6696 T6695 amod single,mutation
R704 T6564 T6562 dobj score,providing
R705 T6697 T6695 prep within,mutation
R706 T6698 T6697 pobj Itpr1,within
R707 T6699 T6695 punct : ,mutation
R708 T6565 T6566 nummod two,point
R709 T6700 T6701 det a,deletion
R710 T6701 T6695 appos deletion,mutation
R711 T6702 T6701 amod novel,deletion
R712 T6703 T6701 nmod in,deletion
R713 T6704 T6703 punct -,in
R714 T6705 T6703 pobj frame,in
R715 T6566 T6564 compound point,score
R716 T6706 T6701 prep of,deletion
R717 T6707 T6708 nummod 18,bp
R718 T6708 T6706 pobj bp,of
R719 T6567 T6566 punct -,point
R720 T6709 T6701 prep within,deletion
R721 T6568 T6564 compound LOD,score
R722 T6710 T6709 pobj exon,within
R723 T6711 T6710 nummod 36,exon
R724 T6712 T6713 punct (,Δ18
R725 T6713 T6701 parataxis Δ18,deletion
R726 T6569 T6564 prep of,score
R727 T6714 T6713 compound Itpr1Δ18,Δ18
R728 T6715 T6713 punct /,Δ18
R729 T6716 T6713 punct ),Δ18
R730 T6570 T6569 pobj 5.13,of
R731 T6717 T6676 punct .,revealed
R732 T6719 T6720 aux To,confirm
R733 T6571 T6564 prep at,score
R734 T6720 T6721 advcl confirm,crossed
R735 T6722 T6723 det the,pathogenicity
R736 T6572 T6573 compound marker,20.MMHAP85FLG2
R737 T6723 T6720 dobj pathogenicity,confirm
R738 T6724 T6723 prep of,pathogenicity
R739 T6725 T6726 det this,mutation
R740 T6573 T6571 pobj 20.MMHAP85FLG2,at
R741 T6726 T6724 pobj mutation,of
R742 T6727 T6721 nsubj we,crossed
R743 T6574 T6573 prep on,20.MMHAP85FLG2
R744 T6728 T6729 amod heterozygous,mice
R745 T6729 T6721 dobj mice,crossed
R746 T6730 T6729 prep from,mice
R747 T6731 T6732 det the,study
R748 T6575 T6576 compound Chromosome,6qE1
R749 T6732 T6730 pobj study,from
R750 T6733 T6732 amod current,study
R751 T6576 T6574 pobj 6qE1,on
R752 T6734 T6735 punct (,Δ18
R753 T6735 T6730 parataxis Δ18,from
R754 T6736 T6735 compound Itpr1wt,Δ18
R755 T6737 T6735 punct /,Δ18
R756 T6577 T6548 punct .,showed
R757 T6738 T6735 punct ),Δ18
R758 T6739 T6721 prep with,crossed
R759 T6789 T6787 cc and,Δ18
R760 T6740 T6739 pobj mice,with
R761 T6741 T6740 amod heterozygous,mice
R762 T6742 T6741 prep for,heterozygous
R763 T6743 T6744 det the,mutation
R764 T6744 T6742 pobj mutation,for
R765 T6745 T6744 compound opt,mutation
R766 T6746 T6747 punct (,opt
R767 T6747 T6740 parataxis opt,mice
R768 T6748 T6747 compound Itpr1wt,opt
R769 T6749 T6747 punct /,opt
R770 T6790 T6791 compound Itpr1opt,opt
R771 T6750 T6747 punct ),opt
R772 T6751 T6721 punct .,crossed
R773 T6791 T6787 conj opt,Δ18
R774 T6753 T6754 nsubj This,resulted
R775 T6755 T6754 prep in,resulted
R776 T6792 T6791 punct /,opt
R777 T6756 T6757 nummod two,litters
R778 T6757 T6755 pobj litters,in
R779 T6758 T6757 prep of,litters
R780 T6793 T6794 punct [,1
R781 T6759 T6758 pobj mice,of
R782 T6760 T6757 prep with,litters
R783 T6761 T6762 det a,total
R784 T6794 T6754 parataxis 1,resulted
R785 T6762 T6760 pobj total,with
R786 T6795 T6794 punct ],1
R787 T6763 T6762 prep of,total
R788 T6796 T6754 punct .,resulted
R789 T6764 T6765 nummod four,pups
R790 T6765 T6763 pobj pups,of
R791 T6766 T6765 amod affected,pups
R792 T6798 T6799 advmod Furthermore,was
R793 T6767 T6768 compound Itpr1opt,Δ18
R794 T6768 T6765 compound Δ18,pups
R795 T6769 T6768 punct /,Δ18
R796 T6770 T6762 punct (,total
R797 T6800 T6799 punct ", ",was
R798 T6771 T6762 prep from,total
R799 T6772 T6773 det a,total
R800 T6773 T6771 pobj total,from
R801 T6801 T6802 det this,phenotype
R802 T6774 T6773 prep of,total
R803 T6775 T6774 pobj 15,of
R804 T6776 T6762 punct ),total
R805 T6802 T6799 nsubj phenotype,was
R806 T6777 T6762 prep with,total
R807 T6778 T6779 det a,phenotype
R808 T6779 T6777 pobj phenotype,with
R809 T6803 T6799 acomp similar,was
R810 T6780 T6779 amod indistinguishable,phenotype
R811 T6781 T6780 prep from,indistinguishable
R812 T6782 T6781 pobj that,from
R813 T6783 T6782 prep of,that
R814 T6784 T6785 det the,mice
R815 T6785 T6783 pobj mice,of
R816 T6804 T6799 punct ", ",was
R817 T6786 T6787 nmod Itpr1Δ18,Δ18
R818 T6787 T6785 nmod Δ18,mice
R819 T6788 T6787 punct /,Δ18
R820 T6805 T6806 mark although,severe
R821 T6806 T6799 advcl severe,was
R822 T6807 T6806 advmod less,severe
R823 T6895 T6896 det the,mouse
R824 T6808 T6799 punct ", ",was
R825 T6896 T6894 pobj mouse,in
R826 T6897 T6898 npadvmod Itpr1,deficient
R827 T6898 T6896 amod deficient,mouse
R828 T6809 T6799 prep to,was
R829 T6899 T6898 punct -,deficient
R830 T6810 T6809 pobj that,to
R831 T6900 T6901 punct [,4
R832 T6901 T6896 parataxis 4,mouse
R833 T6902 T6901 punct ],4
R834 T6811 T6810 acl described,that
R835 T6903 T6896 acl generated,mouse
R836 T6904 T6903 prep by,generated
R837 T6905 T6906 compound gene,targeting
R838 T6906 T6904 pobj targeting,by
R839 T6812 T6811 prep in,described
R840 T6907 T6885 punct ", ",associated
R841 T6908 T6909 amod decreased,expression
R842 T6813 T6814 det a,line
R843 T6909 T6885 nsubjpass expression,associated
R844 T6910 T6909 compound Itpr1,expression
R845 T6911 T6885 auxpass is,associated
R846 T6814 T6812 pobj line,in
R847 T6912 T6885 prep with,associated
R848 T6913 T6914 det the,disorder
R849 T6914 T6912 pobj disorder,with
R850 T6915 T6914 amod same,disorder
R851 T6815 T6814 compound mouse,line
R852 T6916 T6914 amod autosomal,disorder
R853 T6917 T6914 amod recessive,disorder
R854 T6816 T6814 prep with,line
R855 T6918 T6914 compound movement,disorder
R856 T6919 T6920 punct (,Figure
R857 T6920 T6885 parataxis Figure,associated
R858 T6921 T6920 nummod 1,Figure
R859 T6817 T6818 amod targeted,deletion
R860 T6922 T6920 punct ),Figure
R861 T6923 T6885 punct .,associated
R862 T6818 T6816 pobj deletion,with
R863 T6925 T6926 prep Given,sought
R864 T6927 T6928 poss our,interest
R865 T6928 T6925 pobj interest,Given
R866 T6929 T6928 prep in,interest
R867 T6930 T6931 amod human,disease
R868 T6819 T6818 prep of,deletion
R869 T6931 T6929 pobj disease,in
R870 T6932 T6931 amod neurological,disease
R871 T6820 T6819 pobj Itpr1,of
R872 T6821 T6820 punct ", ",Itpr1
R873 T6933 T6926 nsubj we,sought
R874 T6934 T6935 aux to,identify
R875 T6822 T6823 advmod where,described
R876 T6823 T6820 relcl described,Itpr1
R877 T6935 T6926 xcomp identify,sought
R878 T6824 T6823 nsubjpass ataxia,described
R879 T6936 T6937 det any,disorders
R880 T6937 T6935 dobj disorders,identify
R881 T6825 T6823 auxpass was,described
R882 T6938 T6937 amod cognate,disorders
R883 T6939 T6937 amod human,disorders
R884 T6826 T6823 prep as,described
R885 T6940 T6941 advmod where,established
R886 T6827 T6828 det a,feature
R887 T6941 T6937 advcl established,disorders
R888 T6942 T6941 nsubjpass linkage,established
R889 T6943 T6941 aux had,established
R890 T6828 T6826 pobj feature,as
R891 T6944 T6941 auxpass been,established
R892 T6945 T6941 prep to,established
R893 T6829 T6828 amod prominent,feature
R894 T6946 T6947 det the,region
R895 T6947 T6945 pobj region,to
R896 T6948 T6947 amod syntenic,region
R897 T6830 T6831 punct [,4
R898 T6949 T6947 prep of,region
R899 T6950 T6951 det the,genome
R900 T6951 T6949 pobj genome,of
R901 T6831 T6799 parataxis 4,was
R902 T6952 T6951 amod human,genome
R903 T6953 T6941 punct ", ",established
R904 T6954 T6941 cc but,established
R905 T6832 T6831 punct ],4
R906 T6955 T6956 advmod where,identified
R907 T6956 T6941 conj identified,established
R908 T6833 T6799 punct .,was
R909 T6957 T6958 det no,mutation
R910 T6958 T6956 nsubjpass mutation,identified
R911 T6959 T6958 amod causal,mutation
R912 T6835 T6836 prep As,results
R913 T6960 T6956 aux had,identified
R914 T6961 T6956 auxpass been,identified
R915 T6962 T6926 punct .,sought
R916 T6837 T6835 prep with,As
R917 T6964 T6965 nsubjpass SCA15,linked
R918 T6966 T6964 punct ", ",SCA15
R919 T6967 T6968 det an,ataxia
R920 T6968 T6964 appos ataxia,SCA15
R921 T6969 T6970 amod adult,onset
R922 T6970 T6968 nmod onset,ataxia
R923 T6838 T6839 det the,mice
R924 T6971 T6970 punct -,onset
R925 T6972 T6973 amod autosomal,dominant
R926 T6973 T6968 amod dominant,ataxia
R927 T6839 T6837 pobj mice,with
R928 T6974 T6968 amod progressive,ataxia
R929 T6975 T6965 auxpass is,linked
R930 T6976 T6965 prep to,linked
R931 T6840 T6841 compound Itpr1opt,opt
R932 T6977 T6978 det this,locus
R933 T6978 T6976 pobj locus,to
R934 T6841 T6839 compound opt,mice
R935 T6979 T6980 punct [,5
R936 T6980 T6965 parataxis 5,linked
R937 T6842 T6841 punct /,opt
R938 T6981 T6980 punct ],5
R939 T6982 T6965 punct .,linked
R940 T6843 T6839 punct ", ",mice
R941 T6984 T6985 mark Although,ruled
R942 T6985 T6993 advcl ruled,led
R943 T6986 T6987 compound missense,mutation
R944 T6844 T6845 advmod where,predicted
R945 T6987 T6985 nsubjpass mutation,ruled
R946 T6988 T6987 prep of,mutation
R947 T6989 T6988 pobj ITPR1,of
R948 T6845 T6839 relcl predicted,mice
R949 T6990 T6985 aux had,ruled
R950 T6991 T6985 advmod previously,ruled
R951 T6992 T6985 auxpass been,ruled
R952 T6846 T6847 det the,deletion
R953 T6994 T6985 prt out,ruled
R954 T6995 T6996 punct [,2
R955 T6847 T6845 nsubjpass deletion,predicted
R956 T6996 T6985 parataxis 2,ruled
R957 T6997 T6996 punct ],2
R958 T6998 T6985 cc and,ruled
R959 T6848 T6847 prep of,deletion
R960 T6999 T7000 det the,mode
R961 T7000 T7001 nsubj mode,was
R962 T6849 T6850 nmod exons,43
R963 T6850 T6848 pobj 43,of
R964 T7001 T6985 conj was,ruled
R965 T6851 T6850 cc and,43
R966 T7002 T7000 prep of,mode
R967 T7003 T7002 pobj inheritance,of
R968 T7004 T7001 acomp inconsistent,was
R969 T7005 T7004 prep with,inconsistent
R970 T7006 T7005 pobj that,with
R971 T7007 T7006 acl seen,that
R972 T6852 T6850 conj 44,43
R973 T7008 T7007 prep in,seen
R974 T7009 T7010 det the,mice
R975 T7010 T7008 pobj mice,in
R976 T6853 T6845 auxpass is,predicted
R977 T7011 T7010 nmod Itpr1Δ18,mice
R978 T7012 T7011 cc and,Itpr1Δ18
R979 T7013 T7011 conj Itpr1opt,Itpr1Δ18
R980 T6854 T6845 advmod also,predicted
R981 T7014 T6993 punct ", ",led
R982 T7015 T7016 det the,presence
R983 T7016 T6993 nsubj presence,led
R984 T6855 T6856 aux to,leave
R985 T7017 T7016 amod phenotypic,presence
R986 T6856 T6845 xcomp leave,predicted
R987 T6857 T6858 det the,frame
R988 T7018 T7016 prep of,presence
R989 T7019 T7018 pobj ataxia,of
R990 T6858 T6856 dobj frame,leave
R991 T7020 T7016 prep in,presence
R992 T7021 T7022 det the,mice
R993 T6859 T6858 amod translational,frame
R994 T7022 T7020 pobj mice,in
R995 T7023 T6993 dobj us,led
R996 T6860 T6858 compound reading,frame
R997 T7024 T7025 aux to,reexamine
R998 T7025 T6993 xcomp reexamine,led
R999 T7026 T7027 det this,gene
R1000 T6861 T6856 oprd unaffected,leave
R1001 T7027 T7025 dobj gene,reexamine
R1002 T7028 T7027 compound candidate,gene
R1003 T6862 T6836 punct ", ",results
R1004 T7029 T7025 prep as,reexamine
R1005 T7030 T7031 det a,cause
R1006 T7031 T7029 pobj cause,as
R1007 T6863 T6864 det the,mutation
R1008 T7032 T7031 amod possible,cause
R1009 T7033 T7031 prep of,cause
R1010 T6864 T6836 nsubj mutation,results
R1011 T7034 T7033 pobj SCA15,of
R1012 T7035 T6993 punct .,led
R1013 T6865 T6864 nmod in,mutation
R1014 T7037 T7038 nsubj We,obtained
R1015 T7039 T7040 amod genomic,DNA
R1016 T6866 T6865 punct -,in
R1017 T7040 T7038 dobj DNA,obtained
R1018 T7041 T7038 prep from,obtained
R1019 T7042 T7043 nummod three,members
R1020 T6867 T6865 pobj frame,in
R1021 T7043 T7041 pobj members,from
R1022 T7044 T7043 amod affected,members
R1023 T7045 T7043 compound family,members
R1024 T7046 T7043 cc and,members
R1025 T7047 T7048 nummod one,member
R1026 T7048 T7043 conj member,members
R1027 T6868 T6869 compound Itpr1Δ18,Δ18
R1028 T7049 T7048 compound family,member
R1029 T7050 T7048 prep with,member
R1030 T7051 T7052 amod unknown,status
R1031 T6869 T6864 compound Δ18,mutation
R1032 T7052 T7050 pobj status,with
R1033 T7053 T7052 compound disease,status
R1034 T7054 T7043 prep from,members
R1035 T6870 T6869 punct /,Δ18
R1036 T7055 T7056 det the,kindred
R1037 T7056 T7054 pobj kindred,from
R1038 T6871 T6864 compound deletion,mutation
R1039 T7057 T7058 advmod originally,used
R1040 T7058 T7056 acl used,kindred
R1041 T7059 T7060 aux to,define
R1042 T6872 T6836 prep in,results
R1043 T7060 T7058 advcl define,used
R1044 T7061 T7060 cc and,define
R1045 T7062 T7060 conj map,define
R1046 T6873 T6874 advmod markedly,decreased
R1047 T7063 T7062 dobj SCA15,map
R1048 T7064 T7065 punct (,AUS1
R1049 T7065 T7063 parataxis AUS1,SCA15
R1050 T6874 T6875 amod decreased,levels
R1051 T7066 T7065 compound family,AUS1
R1052 T7067 T7065 punct ", ",AUS1
R1053 T7068 T7065 prep of,AUS1
R1054 T6875 T6872 pobj levels,in
R1055 T7069 T7070 amod Australian,origin
R1056 T7070 T7068 pobj origin,of
R1057 T7071 T7072 advmod Anglo,Celtic
R1058 T6876 T6875 prep of,levels
R1059 T7072 T7070 amod Celtic,origin
R1060 T7073 T7072 punct -,Celtic
R1061 T7074 T7065 punct ),AUS1
R1062 T6877 T6876 pobj Itpr1,of
R1063 T7075 T7076 punct [,2
R1064 T7076 T7038 parataxis 2,obtained
R1065 T7077 T7076 punct ],2
R1066 T6878 T6836 prep in,results
R1067 T7078 T7038 punct .,obtained
R1068 T6879 T6880 amod cerebellar,cells
R1069 T7080 T7081 nsubj We,performed
R1070 T7082 T7083 nummod two,experiments
R1071 T6880 T6878 pobj cells,in
R1072 T7083 T7081 dative experiments,performed
R1073 T7084 T7081 advmod concurrently,performed
R1074 T7085 T7081 prep in,performed
R1075 T7086 T7087 nummod three,members
R1076 T7087 T7085 pobj members,in
R1077 T7088 T7087 amod affected,members
R1078 T6881 T6880 compound Purkinje,cells
R1079 T7089 T7087 prep of,members
R1080 T7090 T7091 det this,family
R1081 T7091 T7089 pobj family,of
R1082 T6882 T6836 punct .,results
R1083 T7092 T7081 punct : ,performed
R1084 T7093 T7094 compound sequence,analysis
R1085 T7094 T7081 dobj analysis,performed
R1086 T6884 T6885 prep In,associated
R1087 T7095 T7094 prep of,analysis
R1088 T7096 T7097 det the,exons
R1089 T7097 T7095 pobj exons,of
R1090 T7098 T7097 amod coding,exons
R1091 T6886 T6887 det these,mutants
R1092 T7099 T7097 prep of,exons
R1093 T7100 T7099 pobj ITPR1,of
R1094 T7101 T7094 cc and,analysis
R1095 T7102 T7103 amod high,density
R1096 T6887 T6884 pobj mutants,In
R1097 T6888 T6887 nummod two,mutants
R1098 T7103 T7105 nmod density,genotyping
R1099 T7104 T7103 punct -,density
R1100 T6889 T6887 amod spontaneous,mutants
R1101 T7105 T7094 conj genotyping,analysis
R1102 T7106 T7105 nmod genome,genotyping
R1103 T6890 T6891 punct [,1
R1104 T6891 T6887 parataxis 1,mutants
R1105 T6892 T6891 punct ],1
R1106 T7107 T7106 punct -,genome
R1107 T7108 T7106 amod wide,genome
R1108 T7109 T7105 compound SNP,genotyping
R1109 T6893 T6884 cc and,In
R1110 T7110 T7081 punct .,performed
R1111 T6894 T6884 conj in,In
R1112 T7112 T7113 compound Sequence,analysis
R1113 T7113 T7114 nsubj analysis,failed
R1114 T7213 T7212 compound affection,status
R1115 T7115 T7116 aux to,show
R1116 T7116 T7114 xcomp show,failed
R1117 T7117 T7118 det any,alterations
R1118 T7118 T7116 dobj alterations,show
R1119 T7214 T7215 punct (,Figure
R1120 T7119 T7118 compound coding,alterations
R1121 T7120 T7118 acl segregating,alterations
R1122 T7121 T7120 prep with,segregating
R1123 T7215 T7195 parataxis Figure,was
R1124 T7122 T7121 pobj disease,with
R1125 T7123 T7122 cc or,disease
R1126 T7124 T7125 det any,alterations
R1127 T7125 T7122 conj alterations,disease
R1128 T7126 T7127 dep that,were
R1129 T7216 T7215 nummod 3,Figure
R1130 T7127 T7125 relcl were,alterations
R1131 T7128 T7127 acomp inconsistent,were
R1132 T7129 T7128 prep with,inconsistent
R1133 T7217 T7215 punct ),Figure
R1134 T7130 T7131 amod Mendelian,patterns
R1135 T7131 T7129 pobj patterns,with
R1136 T7132 T7131 prep of,patterns
R1137 T7218 T7195 punct .,was
R1138 T7133 T7132 pobj inheritance,of
R1139 T7134 T7131 prep within,patterns
R1140 T7135 T7136 det the,family
R1141 T7220 T7221 det The,data
R1142 T7136 T7134 pobj family,within
R1143 T7137 T7114 punct .,failed
R1144 T7139 T7140 advmod However,showed
R1145 T7221 T7223 nsubj data,showed
R1146 T7141 T7140 punct ", ",showed
R1147 T7222 T7221 compound SNP,data
R1148 T7142 T7140 nsubj visualization,showed
R1149 T7143 T7142 prep of,visualization
R1150 T7144 T7145 compound log,R
R1151 T7223 T7224 ccomp showed,allowed
R1152 T7145 T7146 compound R,ratio
R1153 T7146 T7143 pobj ratio,of
R1154 T7147 T7146 cc and,ratio
R1155 T7225 T7226 det a,deletion
R1156 T7148 T7149 compound B,allele
R1157 T7149 T7150 compound allele,metrics
R1158 T7150 T7146 conj metrics,ratio
R1159 T7226 T7223 dobj deletion,showed
R1160 T7151 T7150 compound frequency,metrics
R1161 T7152 T7150 prep from,metrics
R1162 T7153 T7154 det the,experiments
R1163 T7227 T7226 prep of,deletion
R1164 T7154 T7152 pobj experiments,from
R1165 T7155 T7156 npadvmod genome,wide
R1166 T7156 T7154 amod wide,experiments
R1167 T7228 T7227 prep between,of
R1168 T7157 T7156 punct -,wide
R1169 T7158 T7154 compound SNP,experiments
R1170 T7159 T7154 compound genotyping,experiments
R1171 T7229 T7230 nummod 188,kb
R1172 T7160 T7140 advmod clearly,showed
R1173 T7161 T7140 dobj data,showed
R1174 T7230 T7228 pobj kb,between
R1175 T7162 T7161 amod consistent,data
R1176 T7163 T7162 prep with,consistent
R1177 T7164 T7165 det a,deletion
R1178 T7165 T7163 pobj deletion,with
R1179 T7166 T7165 amod heterozygous,deletion
R1180 T7167 T7165 amod genomic,deletion
R1181 T7231 T7230 cc and,kb
R1182 T7168 T7165 prep across,deletion
R1183 T7169 T7170 det the,third
R1184 T7170 T7168 pobj third,across
R1185 T7171 T7170 amod first,third
R1186 T7232 T7233 nummod 210,kb
R1187 T7172 T7170 nummod one,third
R1188 T7173 T7170 punct -,third
R1189 T7174 T7170 prep of,third
R1190 T7233 T7230 conj kb,kb
R1191 T7175 T7174 pobj ITPR1,of
R1192 T7176 T7168 cc and,across
R1193 T7177 T7168 conj across,across
R1194 T7234 T7230 prep in,kb
R1195 T7178 T7179 det the,half
R1196 T7179 T7177 pobj half,across
R1197 T7180 T7179 amod first,half
R1198 T7235 T7234 pobj size,in
R1199 T7181 T7179 prep of,half
R1200 T7182 T7183 det a,gene
R1201 T7183 T7181 pobj gene,of
R1202 T7236 T7224 punct ;,allowed
R1203 T7184 T7183 amod neighboring,gene
R1204 T7185 T7183 punct ", ",gene
R1205 T7186 T7183 appos SUMF1,gene
R1206 T7237 T7224 nsubj examination,allowed
R1207 T7187 T7188 punct (,Figure
R1208 T7238 T7237 prep of,examination
R1209 T7239 T7238 pobj SNPs,of
R1210 T7188 T7140 parataxis Figure,showed
R1211 T7240 T7239 prep at,SNPs
R1212 T7189 T7188 nummod 2,Figure
R1213 T7190 T7188 punct ),Figure
R1214 T7191 T7140 punct .,showed
R1215 T7241 T7242 det the,regions
R1216 T7193 T7194 det This,deletion
R1217 T7242 T7240 pobj regions,at
R1218 T7194 T7195 nsubj deletion,was
R1219 T7243 T7242 amod flanking,regions
R1220 T7196 T7195 acomp apparent,was
R1221 T7197 T7196 prep in,apparent
R1222 T7244 T7242 amod unknown,regions
R1223 T7198 T7199 det all,members
R1224 T7245 T7242 prep of,regions
R1225 T7199 T7197 pobj members,in
R1226 T7200 T7199 nummod three,members
R1227 T7201 T7199 amod affected,members
R1228 T7246 T7247 det this,deletion
R1229 T7202 T7199 compound family,members
R1230 T7203 T7199 acl studied,members
R1231 T7204 T7196 cc and,apparent
R1232 T7205 T7196 conj absent,apparent
R1233 T7206 T7205 prep from,absent
R1234 T7207 T7208 det the,member
R1235 T7247 T7245 pobj deletion,of
R1236 T7208 T7206 pobj member,from
R1237 T7209 T7208 compound family,member
R1238 T7248 T7249 nsubj us,delimit
R1239 T7210 T7208 prep with,member
R1240 T7211 T7212 amod unknown,status
R1241 T7212 T7210 pobj status,with
R1242 T7249 T7224 ccomp delimit,allowed
R1243 T7250 T7249 aux to,delimit
R1244 T7251 T7252 det the,borders
R1245 T7252 T7249 dobj borders,delimit
R1246 T7253 T7252 prep of,borders
R1247 T7319 T7317 compound genotyping,chip
R1248 T7254 T7255 det the,deletion
R1249 T7320 T7317 punct ", ",chip
R1250 T7321 T7317 prep from,chip
R1251 T7255 T7253 pobj deletion,of
R1252 T7322 T7323 nummod 577,individuals
R1253 T7323 T7321 pobj individuals,from
R1254 T7256 T7249 prep to,delimit
R1255 T7324 T7323 prep of,individuals
R1256 T7325 T7326 amod European,descent
R1257 T7326 T7324 pobj descent,of
R1258 T7257 T7258 nummod 7.5,kb
R1259 T7327 T7328 dep who,were
R1260 T7328 T7323 relcl were,individuals
R1261 T7329 T7330 preconj either,controls
R1262 T7258 T7256 pobj kb,to
R1263 T7330 T7328 attr controls,were
R1264 T7331 T7330 cc or,controls
R1265 T7332 T7330 conj individuals,controls
R1266 T7259 T7258 prep on,kb
R1267 T7333 T7332 prep with,individuals
R1268 T7334 T7335 det an,disorder
R1269 T7260 T7261 det the,side
R1270 T7335 T7333 pobj disorder,with
R1271 T7336 T7335 amod unrelated,disorder
R1272 T7337 T7335 amod neurological,disorder
R1273 T7261 T7259 pobj side,on
R1274 T7338 T7292 punct .,analyzed
R1275 T7262 T7261 amod telomeric,side
R1276 T7340 T7341 nsubj We,failed
R1277 T7341 T7342 ccomp failed,identify
R1278 T7263 T7261 prep of,side
R1279 T7343 T7344 aux to,find
R1280 T7344 T7341 xcomp find,failed
R1281 T7345 T7346 det any,deletions
R1282 T7346 T7344 dobj deletions,find
R1283 T7347 T7346 acl affecting,deletions
R1284 T7264 T7265 det the,deletion
R1285 T7348 T7349 det the,sequence
R1286 T7349 T7347 dobj sequence,affecting
R1287 T7350 T7349 compound coding,sequence
R1288 T7265 T7263 pobj deletion,of
R1289 T7351 T7349 prep of,sequence
R1290 T7352 T7353 det either,gene
R1291 T7353 T7351 pobj gene,of
R1292 T7266 T7261 punct (,side
R1293 T7354 T7353 punct ", ",gene
R1294 T7355 T7353 appos ITPR1,gene
R1295 T7356 T7355 cc or,ITPR1
R1296 T7267 T7261 prep between,side
R1297 T7357 T7355 conj SUMF1,ITPR1
R1298 T7268 T7267 pobj rs12634249,between
R1299 T7358 T7342 punct ;,identify
R1300 T7269 T7268 cc and,rs12634249
R1301 T7359 T7342 nsubj we,identify
R1302 T7360 T7342 aux did,identify
R1303 T7361 T7342 punct ", ",identify
R1304 T7270 T7268 conj rs793396,rs12634249
R1305 T7362 T7342 advmod however,identify
R1306 T7363 T7342 punct ", ",identify
R1307 T7364 T7365 det a,individual
R1308 T7271 T7261 punct ),side
R1309 T7365 T7342 dobj individual,identify
R1310 T7366 T7365 amod single,individual
R1311 T7272 T7258 cc and,kb
R1312 T7367 T7365 prep with,individual
R1313 T7368 T7369 det a,deletion
R1314 T7273 T7274 punct ~,14.4
R1315 T7369 T7367 pobj deletion,with
R1316 T7370 T7369 amod possible,deletion
R1317 T7371 T7369 amod heterozygous,deletion
R1318 T7274 T7275 nummod 14.4,kb
R1319 T7372 T7373 advmod approximately,6
R1320 T7373 T7374 nummod 6,kb
R1321 T7374 T7369 npadvmod kb,deletion
R1322 T7275 T7258 conj kb,kb
R1323 T7375 T7374 prep in,kb
R1324 T7376 T7375 pobj size,in
R1325 T7377 T7369 prep within,deletion
R1326 T7276 T7275 prep on,kb
R1327 T7378 T7379 nmod intron,40
R1328 T7379 T7377 pobj 40,within
R1329 T7277 T7278 det the,side
R1330 T7380 T7381 punct –,41
R1331 T7381 T7379 prep 41,40
R1332 T7382 T7379 prep of,40
R1333 T7383 T7382 pobj ITPR1,of
R1334 T7384 T7379 punct ", ",40
R1335 T7385 T7386 advmod at,5
R1336 T7278 T7276 pobj side,on
R1337 T7386 T7388 nummod 5,kb
R1338 T7387 T7386 advmod least,5
R1339 T7388 T7389 npadvmod kb,away
R1340 T7279 T7278 amod centromeric,side
R1341 T7389 T7379 advmod away,40
R1342 T7390 T7389 prep from,away
R1343 T7391 T7390 pobj exon,from
R1344 T7280 T7278 prep of,side
R1345 T7392 T7391 nummod 40,exon
R1346 T7393 T7342 punct .,identify
R1347 T7281 T7282 det the,deletion
R1348 T7395 T7396 prep Given,is
R1349 T7282 T7280 pobj deletion,of
R1350 T7397 T7398 det the,location
R1351 T7398 T7395 pobj location,Given
R1352 T7283 T7278 punct (,side
R1353 T7399 T7398 prep of,location
R1354 T7400 T7401 det this,alteration
R1355 T7401 T7399 pobj alteration,of
R1356 T7284 T7278 prep between,side
R1357 T7402 T7396 nsubj it,is
R1358 T7403 T7396 acomp unlikely,is
R1359 T7404 T7405 aux to,effect
R1360 T7285 T7284 pobj rs4073665,between
R1361 T7405 T7403 xcomp effect,unlikely
R1362 T7406 T7407 det the,expression
R1363 T7407 T7405 dobj expression,effect
R1364 T7286 T7285 cc and,rs4073665
R1365 T7408 T7407 cc or,expression
R1366 T7409 T7407 conj splicing,expression
R1367 T7410 T7407 prep of,expression
R1368 T7287 T7285 conj rs17709863,rs4073665
R1369 T7411 T7410 pobj ITPR1,of
R1370 T7412 T7396 punct .,is
R1371 T7288 T7278 punct ),side
R1372 T7414 T7415 prep In,performed
R1373 T7289 T7224 punct .,allowed
R1374 T7416 T7417 det an,attempt
R1375 T7417 T7414 pobj attempt,In
R1376 T7291 T7292 prep In,analyzed
R1377 T7418 T7419 aux to,map
R1378 T7419 T7417 acl map,attempt
R1379 T7420 T7419 advmod fine,map
R1380 T7421 T7419 punct -,map
R1381 T7293 T7294 det an,attempt
R1382 T7422 T7423 det the,breakpoints
R1383 T7423 T7419 dobj breakpoints,map
R1384 T7424 T7423 prep of,breakpoints
R1385 T7425 T7426 det the,deletion
R1386 T7294 T7291 pobj attempt,In
R1387 T7295 T7296 aux to,define
R1388 T7426 T7424 pobj deletion,of
R1389 T7296 T7294 acl define,attempt
R1390 T7427 T7428 npadvmod disease,causing
R1391 T7428 T7426 amod causing,deletion
R1392 T7297 T7298 mark whether,was
R1393 T7429 T7428 punct -,causing
R1394 T7430 T7415 nsubj we,performed
R1395 T7431 T7432 det a,series
R1396 T7298 T7296 ccomp was,define
R1397 T7432 T7415 dobj series,performed
R1398 T7433 T7432 prep of,series
R1399 T7299 T7300 det this,variation
R1400 T7434 T7433 pobj experiments,of
R1401 T7435 T7434 acl designed,experiments
R1402 T7436 T7437 aux to,refine
R1403 T7437 T7435 advcl refine,designed
R1404 T7300 T7298 nsubj variation,was
R1405 T7438 T7439 det the,intervals
R1406 T7439 T7437 dobj intervals,refine
R1407 T7301 T7302 det a,polymorphism
R1408 T7440 T7439 amod unknown,intervals
R1409 T7441 T7437 prep at,refine
R1410 T7442 T7443 det the,edges
R1411 T7302 T7298 attr polymorphism,was
R1412 T7303 T7302 amod benign,polymorphism
R1413 T7443 T7441 pobj edges,at
R1414 T7444 T7443 prep between,edges
R1415 T7304 T7292 nsubj we,analyzed
R1416 T7445 T7446 amod definite,deleted
R1417 T7446 T7447 amod deleted,sequences
R1418 T7305 T7306 npadvmod genome,wide
R1419 T7447 T7444 pobj sequences,between
R1420 T7448 T7446 cc and,deleted
R1421 T7449 T7450 amod definite,diploid
R1422 T7306 T7308 amod wide,data
R1423 T7450 T7446 conj diploid,deleted
R1424 T7451 T7415 punct .,performed
R1425 T7307 T7306 punct -,wide
R1426 T7453 T7454 det These,data
R1427 T7308 T7292 dobj data,analyzed
R1428 T7454 T7455 nsubj data,narrowed
R1429 T7309 T7308 compound SNP,data
R1430 T7456 T7457 det the,borders
R1431 T7457 T7455 dobj borders,narrowed
R1432 T7458 T7457 amod unknown,borders
R1433 T7310 T7308 prep at,data
R1434 T7459 T7455 prep to,narrowed
R1435 T7460 T7461 punct ~,4
R1436 T7311 T7312 det this,locus
R1437 T7461 T7462 nummod 4,kb
R1438 T7462 T7459 pobj kb,to
R1439 T7463 T7462 prep on,kb
R1440 T7464 T7465 det the,side
R1441 T7465 T7463 pobj side,on
R1442 T7466 T7465 amod telomeric,side
R1443 T7312 T7310 pobj locus,at
R1444 T7467 T7462 cc and,kb
R1445 T7468 T7469 punct ~,7
R1446 T7469 T7470 nummod 7,kb
R1447 T7313 T7308 punct ", ",data
R1448 T7470 T7462 conj kb,kb
R1449 T7471 T7470 prep on,kb
R1450 T7472 T7473 det the,side
R1451 T7314 T7308 acl produced,data
R1452 T7473 T7471 pobj side,on
R1453 T7474 T7473 amod centromeric,side
R1454 T7315 T7314 advcl using,produced
R1455 T7475 T7455 punct .,narrowed
R1456 T7477 T7478 nsubj We,used
R1457 T7316 T7317 det the,chip
R1458 T7479 T7480 det all,combinations
R1459 T7317 T7315 dobj chip,using
R1460 T7480 T7478 dobj combinations,used
R1461 T7481 T7480 amod possible,combinations
R1462 T7482 T7480 prep of,combinations
R1463 T7318 T7317 amod same,chip
R1464 T7483 T7484 amod forward,orientation
R1465 T7484 T7485 compound orientation,primers
R1466 T7485 T7482 pobj primers,of
R1467 T7533 T7534 amod more,200
R1468 T7486 T7485 acl designed,primers
R1469 T7487 T7486 prep within,designed
R1470 T7488 T7489 det the,boundary
R1471 T7489 T7487 pobj boundary,within
R1472 T7534 T7536 nummod 200,kb
R1473 T7490 T7491 advmod newly,defined
R1474 T7491 T7489 amod defined,boundary
R1475 T7492 T7489 amod telomeric,boundary
R1476 T7493 T7482 cc and,of
R1477 T7535 T7534 quantmod than,200
R1478 T7494 T7482 conj of,of
R1479 T7495 T7496 amod reverse,orientation
R1480 T7496 T7497 compound orientation,primers
R1481 T7536 T7537 npadvmod kb,apart
R1482 T7497 T7494 pobj primers,of
R1483 T7498 T7497 acl designed,primers
R1484 T7537 T7531 advmod apart,be
R1485 T7499 T7498 prep within,designed
R1486 T7500 T7501 det the,boundary
R1487 T7501 T7499 pobj boundary,within
R1488 T7538 T7523 punct ", ",were
R1489 T7502 T7503 advmod newly,defined
R1490 T7503 T7501 amod defined,boundary
R1491 T7504 T7501 amod centromeric,boundary
R1492 T7505 T7478 prep in,used
R1493 T7506 T7507 compound PCR,assays
R1494 T7507 T7505 pobj assays,in
R1495 T7539 T7523 nsubj we,were
R1496 T7508 T7478 prep in,used
R1497 T7509 T7510 det an,attempt
R1498 T7510 T7508 pobj attempt,in
R1499 T7511 T7512 aux to,amplify
R1500 T7512 T7510 acl amplify,attempt
R1501 T7540 T7523 acomp able,were
R1502 T7513 T7512 prep across,amplify
R1503 T7514 T7515 det the,deletion
R1504 T7515 T7513 pobj deletion,across
R1505 T7541 T7542 aux to,amplify
R1506 T7516 T7515 prep in,deletion
R1507 T7517 T7518 amod affected,members
R1508 T7518 T7516 pobj members,in
R1509 T7542 T7540 xcomp amplify,able
R1510 T7519 T7518 compound family,members
R1511 T7520 T7478 punct .,used
R1512 T7543 T7544 det a,fragment
R1513 T7522 T7523 advcl Using,were
R1514 T7544 T7542 dobj fragment,amplify
R1515 T7524 T7525 compound PCR,primers
R1516 T7525 T7522 dobj primers,Using
R1517 T7526 T7525 appos T3F,primers
R1518 T7545 T7546 nummod 953,bp
R1519 T7527 T7526 cc and,T3F
R1520 T7528 T7526 conj C11R,T3F
R1521 T7546 T7544 npadvmod bp,fragment
R1522 T7529 T7525 punct ", ",primers
R1523 T7547 T7546 prep in,bp
R1524 T7530 T7531 dep which,be
R1525 T7531 T7525 relcl be,primers
R1526 T7548 T7547 pobj size,in
R1527 T7532 T7531 aux should,be
R1528 T7549 T7542 advcl using,amplify
R1529 T7550 T7549 dobj DNA,using
R1530 T7551 T7550 prep from,DNA
R1531 T7552 T7551 pobj each,from
R1532 T7639 T7638 pobj SCA15,of
R1533 T7640 T7630 nsubj we,analyzed
R1534 T7641 T7642 nummod two,families
R1535 T7553 T7552 prep of,each
R1536 T7642 T7630 dobj families,analyzed
R1537 T7643 T7642 amod additional,families
R1538 T7644 T7642 prep with,families
R1539 T7554 T7555 det the,members
R1540 T7645 T7646 det an,ataxia
R1541 T7646 T7644 pobj ataxia,with
R1542 T7647 T7646 amod inherited,ataxia
R1543 T7648 T7646 amod cerebellar,ataxia
R1544 T7649 T7646 amod similar,ataxia
R1545 T7555 T7553 pobj members,of
R1546 T7650 T7649 prep to,similar
R1547 T7651 T7650 pobj that,to
R1548 T7652 T7651 acl described,that
R1549 T7556 T7555 nummod three,members
R1550 T7653 T7652 prep in,described
R1551 T7654 T7655 det the,family
R1552 T7655 T7653 pobj family,in
R1553 T7557 T7555 amod affected,members
R1554 T7656 T7655 compound AUS1,family
R1555 T7657 T7652 punct ", ",described
R1556 T7658 T7652 dep ascertained,described
R1557 T7558 T7555 compound family,members
R1558 T7659 T7658 prep through,ascertained
R1559 T7660 T7661 compound neurology,clinics
R1560 T7559 T7549 prep as,using
R1561 T7661 T7659 pobj clinics,through
R1562 T7662 T7661 prep in,clinics
R1563 T7663 T7662 pobj London,in
R1564 T7560 T7559 pobj template,as
R1565 T7664 T7663 punct ", ",London
R1566 T7665 T7666 compound United,Kingdom
R1567 T7561 T7523 punct .,were
R1568 T7666 T7663 npadvmod Kingdom,London
R1569 T7667 T7630 punct .,analyzed
R1570 T7563 T7564 nsubj Sequencing,revealed
R1571 T7669 T7670 nsubjpass DNA,analyzed
R1572 T7671 T7669 acl extracted,DNA
R1573 T7672 T7671 prep from,extracted
R1574 T7565 T7563 prep of,Sequencing
R1575 T7673 T7672 pobj probands,from
R1576 T7674 T7673 prep from,probands
R1577 T7675 T7676 det these,families
R1578 T7676 T7674 pobj families,from
R1579 T7566 T7567 det this,fragment
R1580 T7677 T7676 nummod two,families
R1581 T7678 T7679 punct (,H33
R1582 T7567 T7565 pobj fragment,of
R1583 T7679 T7676 parataxis H33,families
R1584 T7680 T7679 compound family,H33
R1585 T7681 T7679 cc and,H33
R1586 T7568 T7569 det a,deletion
R1587 T7682 T7683 compound family,H27
R1588 T7683 T7679 conj H27,H33
R1589 T7684 T7679 punct ),H33
R1590 T7569 T7564 dobj deletion,revealed
R1591 T7685 T7670 auxpass were,analyzed
R1592 T7686 T7670 advmod also,analyzed
R1593 T7687 T7670 advcl using,analyzed
R1594 T7688 T7689 compound Illumina,HumanHap550
R1595 T7689 T7691 compound HumanHap550,chips
R1596 T7690 T7689 compound Infinium,HumanHap550
R1597 T7691 T7687 dobj chips,using
R1598 T7570 T7569 prep of,deletion
R1599 T7692 T7691 compound genotyping,chips
R1600 T7693 T7670 punct .,analyzed
R1601 T7571 T7572 nummod "201,509",bp
R1602 T7695 T7696 det These,experiments
R1603 T7696 T7697 nsubj experiments,showed
R1604 T7572 T7570 pobj bp,of
R1605 T7698 T7697 dobj deletion,showed
R1606 T7699 T7697 prep at,showed
R1607 T7573 T7574 punct (,S3
R1608 T7700 T7701 det the,locus
R1609 T7574 T7564 parataxis S3,revealed
R1610 T7701 T7699 pobj locus,at
R1611 T7575 T7574 compound Figure,S3
R1612 T7702 T7701 compound SCA15,locus
R1613 T7703 T7697 prep in,showed
R1614 T7704 T7705 det all,members
R1615 T7576 T7574 punct ),S3
R1616 T7705 T7703 pobj members,in
R1617 T7706 T7705 amod affected,members
R1618 T7577 T7564 punct ", ",revealed
R1619 T7578 T7564 advcl removing,revealed
R1620 T7707 T7705 acl assayed,members
R1621 T7708 T7705 punct ", ",members
R1622 T7579 T7580 det the,three
R1623 T7709 T7705 prep from,members
R1624 T7710 T7709 pobj SUMF1,from
R1625 T7580 T7578 dobj three,removing
R1626 T7711 T7709 prep through,from
R1627 T7712 T7711 pobj ITPR1,through
R1628 T7581 T7580 amod first,three
R1629 T7713 T7697 punct .,showed
R1630 T7582 T7580 prep of,three
R1631 T7715 T7716 det These,mutations
R1632 T7716 T7717 nsubj mutations,segregated
R1633 T7583 T7584 det the,exons
R1634 T7718 T7717 prep with,segregated
R1635 T7719 T7718 pobj disease,with
R1636 T7720 T7719 prep in,disease
R1637 T7584 T7582 pobj exons,of
R1638 T7721 T7722 det these,families
R1639 T7722 T7720 pobj families,in
R1640 T7585 T7584 nummod nine,exons
R1641 T7723 T7722 nummod two,families
R1642 T7724 T7725 punct (,S3
R1643 T7725 T7717 parataxis S3,segregated
R1644 T7586 T7584 prep of,exons
R1645 T7726 T7725 compound Figure,S3
R1646 T7727 T7725 punct ),S3
R1647 T7728 T7717 punct .,segregated
R1648 T7730 T7731 det A,strategy
R1649 T7731 T7732 nsubj strategy,enabled
R1650 T7587 T7586 pobj SUMF1,of
R1651 T7733 T7731 amod similar,strategy
R1652 T7734 T7733 prep to,similar
R1653 T7588 T7580 cc and,three
R1654 T7735 T7736 det the,one
R1655 T7736 T7734 pobj one,to
R1656 T7737 T7736 acl outlined,one
R1657 T7589 T7590 det the,ten
R1658 T7738 T7737 advmod above,outlined
R1659 T7739 T7732 dobj us,enabled
R1660 T7740 T7741 aux to,sequence
R1661 T7590 T7580 conj ten,three
R1662 T7741 T7732 xcomp sequence,enabled
R1663 T7742 T7741 prep over,sequence
R1664 T7743 T7744 det the,breakpoint
R1665 T7591 T7590 amod first,ten
R1666 T7744 T7742 pobj breakpoint,over
R1667 T7592 T7590 prep of,ten
R1668 T7593 T7594 det the,exons
R1669 T7745 T7741 prep in,sequence
R1670 T7594 T7592 pobj exons,of
R1671 T7746 T7747 compound family,H27
R1672 T7747 T7745 pobj H27,in
R1673 T7748 T7747 cc but,H27
R1674 T7595 T7594 nummod 58,exons
R1675 T7749 T7748 neg not,but
R1676 T7750 T7751 compound family,H33
R1677 T7596 T7594 prep of,exons
R1678 T7751 T7747 conj H33,H27
R1679 T7752 T7732 punct .,enabled
R1680 T7597 T7596 pobj ITPR1,of
R1681 T7754 T7755 prep In,spans
R1682 T7755 T7761 ccomp spans,estimate
R1683 T7756 T7757 det the,former
R1684 T7598 T7564 punct .,revealed
R1685 T7757 T7754 pobj former,In
R1686 T7758 T7755 punct ", ",spans
R1687 T7759 T7760 det the,deletion
R1688 T7600 T7601 nsubj We,were
R1689 T7760 T7755 nsubj deletion,spans
R1690 T7762 T7763 nummod "344,408",bp
R1691 T7763 T7755 dobj bp,spans
R1692 T7602 T7601 acomp unable,were
R1693 T7764 T7755 punct ", ",spans
R1694 T7765 T7755 advcl removing,spans
R1695 T7766 T7767 nmod exons,1
R1696 T7767 T7765 dobj 1,removing
R1697 T7603 T7604 aux to,amplify
R1698 T7768 T7769 punct –,3
R1699 T7769 T7767 prep 3,1
R1700 T7770 T7767 prep of,1
R1701 T7771 T7770 pobj SUMF1,of
R1702 T7772 T7767 cc and,1
R1703 T7773 T7767 conj 1,1
R1704 T7604 T7602 xcomp amplify,unable
R1705 T7774 T7775 punct –,44
R1706 T7775 T7773 prep 44,1
R1707 T7776 T7773 prep of,1
R1708 T7605 T7606 det the,fragment
R1709 T7777 T7776 pobj ITPR1,of
R1710 T7778 T7761 punct ;,estimate
R1711 T7779 T7761 prep in,estimate
R1712 T7606 T7604 dobj fragment,amplify
R1713 T7780 T7781 det the,latter
R1714 T7781 T7779 pobj latter,in
R1715 T7782 T7761 punct ", ",estimate
R1716 T7607 T7608 npadvmod deletion,specific
R1717 T7783 T7761 nsubj we,estimate
R1718 T7784 T7785 mark that,is
R1719 T7785 T7761 advcl is,estimate
R1720 T7608 T7606 amod specific,fragment
R1721 T7786 T7787 det the,deletion
R1722 T7787 T7785 nsubj deletion,is
R1723 T7609 T7608 punct -,specific
R1724 T7788 T7789 nummod 310,kb
R1725 T7610 T7606 prep in,fragment
R1726 T7789 T7785 attr kb,is
R1727 T7790 T7789 prep in,kb
R1728 T7611 T7612 det the,member
R1729 T7791 T7790 pobj length,in
R1730 T7792 T7785 cc and,is
R1731 T7793 T7794 mark that,removes
R1732 T7612 T7610 pobj member,in
R1733 T7794 T7785 conj removes,is
R1734 T7795 T7794 nsubj it,removes
R1735 T7796 T7797 nmod exons,1
R1736 T7613 T7612 compound family,member
R1737 T7797 T7794 dobj 1,removes
R1738 T7798 T7799 punct –,3
R1739 T7614 T7612 prep of,member
R1740 T7799 T7797 prep 3,1
R1741 T7800 T7797 prep of,1
R1742 T7801 T7800 pobj SUMF1,of
R1743 T7802 T7797 cc and,1
R1744 T7615 T7616 amod unknown,status
R1745 T7803 T7804 nmod exons,1
R1746 T7804 T7797 conj 1,1
R1747 T7616 T7614 pobj status,of
R1748 T7805 T7806 punct –,40
R1749 T7806 T7804 prep 40,1
R1750 T7807 T7804 prep of,1
R1751 T7808 T7807 pobj ITPR1,of
R1752 T7809 T7761 punct .,estimate
R1753 T7617 T7616 compound affection,status
R1754 T7811 T7812 det The,site
R1755 T7812 T7813 nsubj site,is
R1756 T7813 T7816 ccomp is,failed
R1757 T7618 T7610 punct ", ",in
R1758 T7814 T7812 prep of,site
R1759 T7815 T7814 pobj mutation,of
R1760 T7619 T7610 cc or,in
R1761 T7817 T7813 prep of,is
R1762 T7818 T7817 pobj interest,of
R1763 T7819 T7813 punct ", ",is
R1764 T7620 T7610 conj in,in
R1765 T7820 T7821 advmod particularly,fact
R1766 T7821 T7813 npadvmod fact,is
R1767 T7822 T7821 det the,fact
R1768 T7621 T7622 nummod 275,controls
R1769 T7823 T7824 mark that,anchored
R1770 T7824 T7821 acl anchored,fact
R1771 T7825 T7824 prep in,anchored
R1772 T7622 T7620 pobj controls,in
R1773 T7826 T7825 pobj each,in
R1774 T7827 T7826 prep of,each
R1775 T7828 T7829 det the,families
R1776 T7623 T7624 advmod neurologically,normal
R1777 T7829 T7827 pobj families,of
R1778 T7830 T7829 nummod three,families
R1779 T7624 T7622 amod normal,controls
R1780 T7831 T7832 det the,end
R1781 T7832 T7824 nsubjpass end,anchored
R1782 T7833 T7832 amod telomeric,end
R1783 T7625 T7601 punct .,were
R1784 T7834 T7832 prep of,end
R1785 T7835 T7836 det the,deletion
R1786 T7836 T7834 pobj deletion,of
R1787 T7627 T7628 aux To,establish
R1788 T7837 T7824 auxpass is,anchored
R1789 T7838 T7824 prep between,anchored
R1790 T7839 T7840 nmod exons,3
R1791 T7840 T7838 pobj 3,between
R1792 T7628 T7630 advcl establish,analyzed
R1793 T7841 T7840 cc and,3
R1794 T7842 T7840 conj 4,3
R1795 T7629 T7628 advmod further,establish
R1796 T7843 T7840 prep of,3
R1797 T7844 T7843 pobj SUMF1,of
R1798 T7845 T7816 punct ;,failed
R1799 T7631 T7632 amod genetic,deletion
R1800 T7846 T7847 compound sequence,searches
R1801 T7847 T7816 nsubj searches,failed
R1802 T7848 T7849 aux to,identify
R1803 T7849 T7816 xcomp identify,failed
R1804 T7850 T7851 det any,sequences
R1805 T7851 T7849 dobj sequences,identify
R1806 T7632 T7628 dobj deletion,establish
R1807 T7633 T7632 prep at,deletion
R1808 T7634 T7633 pobj ITPR1,at
R1809 T7635 T7628 prep as,establish
R1810 T7852 T7851 compound repeat,sequences
R1811 T7853 T7854 dep that,explain
R1812 T7636 T7637 det the,cause
R1813 T7854 T7851 relcl explain,sequences
R1814 T7855 T7854 aux might,explain
R1815 T7637 T7635 pobj cause,as
R1816 T7856 T7857 det this,phenomenon
R1817 T7857 T7854 dobj phenomenon,explain
R1818 T7858 T7816 punct .,failed
R1819 T7638 T7637 prep of,cause
R1820 T7860 T7861 prep With,conclude
R1821 T7959 T7956 compound sulfatase,deficiency
R1822 T7862 T7863 nummod three,families
R1823 T7863 T7860 pobj families,With
R1824 T7864 T7863 amod cerebellar,families
R1825 T7865 T7863 compound ataxia,families
R1826 T7866 T7863 acl segregating,families
R1827 T7960 T7956 punct ", ",deficiency
R1828 T7867 T7868 det a,deletion
R1829 T7868 T7866 dobj deletion,segregating
R1830 T7869 T7870 compound SUMF1,ITPR1
R1831 T7961 T7962 det a,disorder
R1832 T7870 T7868 compound ITPR1,deletion
R1833 T7962 T7956 appos disorder,deficiency
R1834 T7871 T7870 punct –,ITPR1
R1835 T7872 T7863 punct ", ",families
R1836 T7873 T7863 cc and,families
R1837 T7963 T7962 amod metabolic,disorder
R1838 T7964 T7962 acl characterized,disorder
R1839 T7874 T7875 det this,deletion
R1840 T7965 T7964 agent by,characterized
R1841 T7875 T7863 conj deletion,families
R1842 T7876 T7877 neg not,observed
R1843 T7966 T7965 pobj hepatosplenomegaly,by
R1844 T7877 T7875 acl observed,deletion
R1845 T7878 T7877 prep in,observed
R1846 T7967 T7966 punct ", ",hepatosplenomegaly
R1847 T7879 T7880 det a,population
R1848 T7880 T7878 pobj population,in
R1849 T7881 T7880 compound control,population
R1850 T7968 T7966 conj deafness,hepatosplenomegaly
R1851 T7882 T7861 punct ", ",conclude
R1852 T7883 T7861 nsubj we,conclude
R1853 T7884 T7861 aux may,conclude
R1854 T7885 T7861 advmod reasonably,conclude
R1855 T7886 T7887 mark that,is
R1856 T7887 T7861 advcl is,conclude
R1857 T7969 T7968 punct ", ",deafness
R1858 T7888 T7889 det the,association
R1859 T7889 T7887 nsubj association,is
R1860 T7890 T7887 acomp causal,is
R1861 T7970 T7968 cc and,deafness
R1862 T7891 T7887 punct ", ",is
R1863 T7892 T7887 cc and,is
R1864 T7893 T7894 mark that,is
R1865 T7971 T7972 amod developmental,delay
R1866 T7894 T7887 conj is,is
R1867 T7895 T7896 det the,deletion
R1868 T7896 T7894 nsubj deletion,is
R1869 T7972 T7968 conj delay,deafness
R1870 T7897 T7894 advmod indeed,is
R1871 T7898 T7899 det the,basis
R1872 T7973 T7974 punct [,7
R1873 T7899 T7894 attr basis,is
R1874 T7900 T7899 amod genetic,basis
R1875 T7901 T7899 prep of,basis
R1876 T7974 T7951 parataxis 7,results
R1877 T7902 T7903 det the,disease
R1878 T7903 T7901 pobj disease,of
R1879 T7904 T7894 punct ", ",is
R1880 T7975 T7974 nummod 6,7
R1881 T7905 T7906 mark with,diagnosis
R1882 T7906 T7894 advcl diagnosis,is
R1883 T7976 T7974 punct ",",7
R1884 T7907 T7906 nsubj SCA15,diagnosis
R1885 T7908 T7906 det the,diagnosis
R1886 T7909 T7906 prep in,diagnosis
R1887 T7977 T7974 punct ],7
R1888 T7910 T7911 det the,families
R1889 T7911 T7909 pobj families,in
R1890 T7912 T7911 nummod two,families
R1891 T7978 T7951 punct .,results
R1892 T7913 T7911 amod British,families
R1893 T7914 T7915 advmod as,as
R1894 T7915 T7911 cc as,families
R1895 T7980 T7981 det No,co-occurrence
R1896 T7916 T7915 advmod well,as
R1897 T7917 T7918 det the,family
R1898 T7918 T7911 conj family,families
R1899 T7919 T7918 amod original,family
R1900 T7981 T7982 nsubjpass co-occurrence,described
R1901 T7920 T7918 amod Australian,family
R1902 T7921 T7861 punct .,conclude
R1903 T7983 T7981 prep of,co-occurrence
R1904 T7923 T7924 nsubj It,is
R1905 T7925 T7924 acomp improbable,is
R1906 T7926 T7927 mark that,causes
R1907 T7927 T7924 ccomp causes,is
R1908 T7928 T7927 nsubj heterozygosity,causes
R1909 T7984 T7983 pobj ataxia,of
R1910 T7929 T7928 prep for,heterozygosity
R1911 T7930 T7931 det the,deletion
R1912 T7985 T7982 aux has,described
R1913 T7931 T7929 pobj deletion,for
R1914 T7932 T7931 prep of,deletion
R1915 T7933 T7932 pobj SUMF1,of
R1916 T7934 T7928 punct ", ",heterozygosity
R1917 T7986 T7982 auxpass been,described
R1918 T7935 T7928 acl encoding,heterozygosity
R1919 T7936 T7937 nmod sulfatase,factor
R1920 T7987 T7982 prep in,described
R1921 T7937 T7935 dobj factor,encoding
R1922 T7938 T7937 amod modifying,factor
R1923 T7939 T7937 nummod 1,factor
R1924 T7988 T7989 punct (,parents
R1925 T7940 T7928 punct ", ",heterozygosity
R1926 T7941 T7928 prep of,heterozygosity
R1927 T7942 T7941 pobj itself,of
R1928 T7989 T7987 pobj parents,in
R1929 T7943 T7927 cc or,causes
R1930 T7944 T7927 conj contributes,causes
R1931 T7990 T7989 amod heterozygous,parents
R1932 T7945 T7944 prep to,contributes
R1933 T7946 T7944 dobj SCA15,contributes
R1934 T7947 T7924 punct .,is
R1935 T7991 T7989 punct ),parents
R1936 T7949 T7950 amod Homozygous,mutation
R1937 T7950 T7951 nsubj mutation,results
R1938 T7992 T7989 prep of,parents
R1939 T7952 T7950 prep of,mutation
R1940 T7993 T7992 pobj patients,of
R1941 T7953 T7952 pobj SUMF1,of
R1942 T7954 T7951 prep in,results
R1943 T7955 T7956 amod autosomal,deficiency
R1944 T7994 T7993 prep with,patients
R1945 T7995 T7996 amod multiple,deficiency
R1946 T7956 T7954 pobj deficiency,in
R1947 T7957 T7956 amod recessive,deficiency
R1948 T7996 T7994 pobj deficiency,with
R1949 T7958 T7956 amod multiple,deficiency
R1950 T7997 T7996 compound sulfatase,deficiency
R1951 T7998 T7982 punct .,described
R1952 T8000 T8001 advmod Conversely,present
R1953 T8066 T8067 prep In,revealed
R1954 T8002 T8001 punct ", ",present
R1955 T8068 T8069 amod further,support
R1956 T8069 T8066 pobj support,In
R1957 T8003 T8004 nsubj mutation,is
R1958 T8070 T8069 prep of,support
R1959 T8071 T8072 det this,conclusion
R1960 T8072 T8070 pobj conclusion,of
R1961 T8073 T8067 punct ", ",revealed
R1962 T8074 T8067 nsubj analysis,revealed
R1963 T8004 T8001 ccomp is,present
R1964 T8075 T8074 prep of,analysis
R1965 T8076 T8077 compound protein,levels
R1966 T8077 T8075 pobj levels,of
R1967 T8005 T8003 prep of,mutation
R1968 T8078 T8077 prep of,levels
R1969 T8079 T8078 pobj ITPR1,of
R1970 T8080 T8079 prep in,ITPR1
R1971 T8006 T8005 pobj ITPR1,of
R1972 T8081 T8082 nmod Epstein,Barr
R1973 T8082 T8084 nmod Barr,virus
R1974 T8007 T8008 advmod biologically,plausible
R1975 T8083 T8082 punct -,Barr
R1976 T8084 T8085 nmod virus,lymphocytes
R1977 T8085 T8080 pobj lymphocytes,in
R1978 T8008 T8004 acomp plausible,is
R1979 T8086 T8084 punct (,virus
R1980 T8087 T8084 appos EBV,virus
R1981 T8088 T8085 punct ),lymphocytes
R1982 T8009 T8004 prep as,is
R1983 T8089 T8085 amod immortalized,lymphocytes
R1984 T8090 T8085 prep from,lymphocytes
R1985 T8091 T8092 amod affected,members
R1986 T8010 T8011 det a,cause
R1987 T8092 T8090 pobj members,from
R1988 T8011 T8009 pobj cause,as
R1989 T8012 T8011 prep of,cause
R1990 T8093 T8091 cc and,affected
R1991 T8013 T8012 pobj ataxia,of
R1992 T8094 T8091 conj unaffected,affected
R1993 T8095 T8092 compound AUS1,members
R1994 T8096 T8092 compound family,members
R1995 T8014 T8001 punct : ,present
R1996 T8097 T8098 mark that,showed
R1997 T8098 T8067 ccomp showed,revealed
R1998 T8099 T8100 det all,members
R1999 T8015 T8016 det the,protein
R2000 T8100 T8098 nsubj members,showed
R2001 T8101 T8100 amod affected,members
R2002 T8102 T8103 det a,decrease
R2003 T8016 T8017 nsubjpass protein,expressed
R2004 T8103 T8098 dobj decrease,showed
R2005 T8104 T8103 amod dramatic,decrease
R2006 T8105 T8103 prep in,decrease
R2007 T8017 T8001 ccomp expressed,present
R2008 T8106 T8107 compound ITPR1,levels
R2009 T8107 T8105 pobj levels,in
R2010 T8108 T8109 advmod when,compared
R2011 T8109 T8098 advcl compared,showed
R2012 T8110 T8109 prep with,compared
R2013 T8018 T8017 auxpass is,expressed
R2014 T8111 T8112 det the,member
R2015 T8112 T8110 pobj member,with
R2016 T8113 T8112 compound family,member
R2017 T8114 T8112 prep without,member
R2018 T8019 T8017 advmod highly,expressed
R2019 T8115 T8116 det the,deletion
R2020 T8116 T8114 pobj deletion,without
R2021 T8020 T8017 prep in,expressed
R2022 T8117 T8118 punct (,Figure
R2023 T8118 T8067 parataxis Figure,revealed
R2024 T8119 T8118 nummod 4,Figure
R2025 T8021 T8022 compound Purkinje,cells
R2026 T8120 T8118 punct ),Figure
R2027 T8121 T8067 punct .,revealed
R2028 T8022 T8020 pobj cells,in
R2029 T8123 T8124 nsubj Itpr1,contains
R2030 T8124 T8125 ccomp contains,contains
R2031 T8023 T8001 punct ;,present
R2032 T8126 T8127 nummod three,domains
R2033 T8127 T8124 dobj domains,contains
R2034 T8024 T8025 mark as,shown
R2035 T8128 T8127 punct ", ",domains
R2036 T8025 T8001 advcl shown,present
R2037 T8129 T8130 det an,domain
R2038 T8026 T8025 nsubj we,shown
R2039 T8130 T8127 appos domain,domains
R2040 T8131 T8132 npadvmod N,terminal
R2041 T8132 T8130 amod terminal,domain
R2042 T8027 T8025 aux have,shown
R2043 T8133 T8132 punct -,terminal
R2044 T8134 T8130 compound inositol,domain
R2045 T8135 T8130 compound triphosphate,domain
R2046 T8028 T8025 advmod here,shown
R2047 T8136 T8130 compound binding,domain
R2048 T8137 T8130 punct ", ",domain
R2049 T8029 T8001 punct ", ",present
R2050 T8138 T8139 det a,domain
R2051 T8139 T8130 conj domain,domain
R2052 T8140 T8139 amod coupling,domain
R2053 T8030 T8001 nsubj mice,present
R2054 T8141 T8139 punct ", ",domain
R2055 T8142 T8139 cc and,domain
R2056 T8031 T8030 prep with,mice
R2057 T8143 T8144 det a,domain
R2058 T8144 T8139 conj domain,domain
R2059 T8145 T8146 npadvmod C,terminal
R2060 T8032 T8031 pobj mutation,with
R2061 T8146 T8144 amod terminal,domain
R2062 T8147 T8146 punct -,terminal
R2063 T8148 T8144 compound transmembrane,domain
R2064 T8149 T8125 punct ;,contains
R2065 T8150 T8125 nsubj it,contains
R2066 T8033 T8032 prep at,mutation
R2067 T8151 T8125 advmod also,contains
R2068 T8152 T8153 nummod two,sites
R2069 T8153 T8125 dobj sites,contains
R2070 T8034 T8035 det this,locus
R2071 T8154 T8155 compound protein,A
R2072 T8155 T8153 compound A,sites
R2073 T8156 T8155 compound kinase,A
R2074 T8035 T8033 pobj locus,at
R2075 T8157 T8153 compound phosphorylation,sites
R2076 T8158 T8153 cc and,sites
R2077 T8159 T8160 det an,site
R2078 T8036 T8001 prep with,present
R2079 T8160 T8153 conj site,sites
R2080 T8161 T8162 npadvmod ATP,binding
R2081 T8162 T8160 amod binding,site
R2082 T8037 T8036 pobj ataxia,with
R2083 T8163 T8162 punct -,binding
R2084 T8164 T8125 punct .,contains
R2085 T8038 T8001 punct ;,present
R2086 T8166 T8167 nsubjpass Itpr1,coupled
R2087 T8039 T8001 cc and,present
R2088 T8168 T8167 auxpass is,coupled
R2089 T8169 T8167 prep to,coupled
R2090 T8040 T8041 amod perturbed,signaling
R2091 T8170 T8171 compound Ca2+,channels
R2092 T8041 T8043 nsubjpass signaling,implicated
R2093 T8042 T8041 compound Ca2+,signaling
R2094 T8171 T8169 pobj channels,to
R2095 T8172 T8167 cc and,coupled
R2096 T8043 T8001 conj implicated,present
R2097 T8173 T8167 conj facilitates,coupled
R2098 T8174 T8175 compound Ca2+,release
R2099 T8175 T8173 dobj release,facilitates
R2100 T8176 T8175 prep from,release
R2101 T8044 T8043 aux has,implicated
R2102 T8177 T8178 det the,reticulum
R2103 T8178 T8176 pobj reticulum,from
R2104 T8045 T8043 advmod previously,implicated
R2105 T8179 T8178 amod endoplasmic,reticulum
R2106 T8180 T8175 prep after,release
R2107 T8181 T8180 pobj binding,after
R2108 T8046 T8043 auxpass been,implicated
R2109 T8182 T8181 prep by,binding
R2110 T8183 T8184 det the,messenger
R2111 T8184 T8182 pobj messenger,by
R2112 T8047 T8043 prep in,implicated
R2113 T8185 T8184 amod intracellular,messenger
R2114 T8186 T8184 amod second,messenger
R2115 T8187 T8188 nmod inositol,triphosphate
R2116 T8188 T8184 appos triphosphate,messenger
R2117 T8189 T8190 nummod 1,5
R2118 T8190 T8188 nummod 5,triphosphate
R2119 T8048 T8049 det the,etiology
R2120 T8191 T8190 punct ",",5
R2121 T8192 T8190 nummod 4,5
R2122 T8193 T8190 punct ",",5
R2123 T8049 T8047 pobj etiology,in
R2124 T8194 T8188 punct -,triphosphate
R2125 T8195 T8196 punct [,9
R2126 T8196 T8173 parataxis 9,facilitates
R2127 T8050 T8049 prep of,etiology
R2128 T8197 T8196 punct ],9
R2129 T8198 T8167 punct .,coupled
R2130 T8051 T8050 pobj ataxia,of
R2131 T8200 T8201 nsubjpass Itpr1,enriched
R2132 T8052 T8043 punct ", ",implicated
R2133 T8202 T8201 auxpass is,enriched
R2134 T8203 T8201 prep in,enriched
R2135 T8204 T8205 det the,cells
R2136 T8053 T8054 advmod notably,in
R2137 T8205 T8203 pobj cells,in
R2138 T8206 T8205 compound Purkinje,cells
R2139 T8207 T8205 prep of,cells
R2140 T8054 T8043 prep in,implicated
R2141 T8208 T8209 det the,cerebellum
R2142 T8209 T8207 pobj cerebellum,of
R2143 T8210 T8211 punct [,4
R2144 T8055 T8056 amod episodic,type
R2145 T8211 T8201 parataxis 4,enriched
R2146 T8212 T8211 punct ],4
R2147 T8213 T8201 punct .,enriched
R2148 T8056 T8054 pobj type,in
R2149 T8057 T8056 compound ataxia,type
R2150 T8215 T8216 compound ITPR1,mutations
R2151 T8058 T8056 nummod 2,type
R2152 T8216 T8217 nsubj mutations,have
R2153 T8059 T8056 cc and,type
R2154 T8218 T8219 amod more,one
R2155 T8219 T8221 nummod one,mechanism
R2156 T8220 T8219 quantmod than,one
R2157 T8221 T8217 dobj mechanism,have
R2158 T8060 T8056 conj SCA6,type
R2159 T8222 T8221 amod potential,mechanism
R2160 T8223 T8221 amod pathogenic,mechanism
R2161 T8224 T8217 punct .,have
R2162 T8061 T8062 punct [,8
R2163 T8226 T8227 advmod First,is
R2164 T8062 T8043 parataxis 8,implicated
R2165 T8228 T8227 punct ", ",is
R2166 T8229 T8230 det the,disease
R2167 T8230 T8231 nsubj disease,be
R2168 T8231 T8227 ccomp be,is
R2169 T8063 T8062 punct ],8
R2170 T8232 T8231 aux may,be
R2171 T8233 T8234 det a,result
R2172 T8234 T8231 attr result,be
R2173 T8235 T8234 prep of,result
R2174 T8064 T8001 punct .,present
R2175 T8236 T8235 pobj haploinsufficiency,of
R2176 T8237 T8236 prep at,haploinsufficiency
R2177 T8277 T8278 advmod much,shorter
R2178 T8238 T8237 pobj ITPR1,at
R2179 T8239 T8227 punct ;,is
R2180 T8240 T8241 det this,concept
R2181 T8241 T8227 nsubj concept,is
R2182 T8278 T8276 amod shorter,span
R2183 T8242 T8227 acomp consistent,is
R2184 T8243 T8242 prep with,consistent
R2185 T8244 T8245 det the,observation
R2186 T8279 T8276 compound life,span
R2187 T8245 T8243 pobj observation,with
R2188 T8246 T8247 mark that,leads
R2189 T8247 T8245 acl leads,observation
R2190 T8280 T8276 prep of,span
R2191 T8248 T8249 amod heterozygous,deletion
R2192 T8249 T8247 nsubj deletion,leads
R2193 T8250 T8247 prep to,leads
R2194 T8281 T8282 det the,mouse
R2195 T8251 T8252 det a,disorder
R2196 T8252 T8250 pobj disorder,to
R2197 T8282 T8280 pobj mouse,of
R2198 T8253 T8254 amod later,onset
R2199 T8254 T8252 compound onset,disorder
R2200 T8255 T8247 prep in,leads
R2201 T8283 T8227 punct .,is
R2202 T8256 T8255 pobj humans,in
R2203 T8257 T8247 punct ", ",leads
R2204 T8285 T8286 advmod Second,failed
R2205 T8258 T8259 mark whereas,leads
R2206 T8259 T8247 advcl leads,leads
R2207 T8260 T8261 amod homozygous,deletion
R2208 T8261 T8259 nsubj deletion,leads
R2209 T8262 T8261 prep in,deletion
R2210 T8263 T8262 pobj mice,in
R2211 T8287 T8286 punct ", ",failed
R2212 T8264 T8259 prep to,leads
R2213 T8265 T8266 det an,disorder
R2214 T8266 T8264 pobj disorder,to
R2215 T8288 T8289 nsubj we,rule
R2216 T8267 T8268 amod early,onset
R2217 T8268 T8266 compound onset,disorder
R2218 T8269 T8266 punct ", ",disorder
R2219 T8270 T8266 amod able,disorder
R2220 T8271 T8272 aux to,expressed
R2221 T8272 T8270 xcomp expressed,able
R2222 T8289 T8286 ccomp rule,failed
R2223 T8273 T8272 auxpass be,expressed
R2224 T8274 T8272 prep within,expressed
R2225 T8275 T8276 det the,span
R2226 T8290 T8289 aux can,rule
R2227 T8276 T8274 pobj span,within
R2228 T8291 T8289 neg not,rule
R2229 T8292 T8289 prt out,rule
R2230 T8383 T8382 advmod here,show
R2231 T8293 T8294 det the,existence
R2232 T8384 T8385 det the,utility
R2233 T8385 T8382 dobj utility,show
R2234 T8294 T8289 dobj existence,rule
R2235 T8295 T8294 prep of,existence
R2236 T8386 T8385 prep of,utility
R2237 T8296 T8297 det an,site
R2238 T8387 T8386 pcomp investigating,of
R2239 T8388 T8389 amod spontaneous,mutations
R2240 T8389 T8387 dobj mutations,investigating
R2241 T8297 T8295 pobj site,of
R2242 T8390 T8389 compound mouse,mutations
R2243 T8391 T8387 prep in,investigating
R2244 T8392 T8391 pcomp understanding,in
R2245 T8298 T8297 amod alternate,site
R2246 T8393 T8394 amod human,disease
R2247 T8394 T8392 dobj disease,understanding
R2248 T8299 T8297 compound start,site
R2249 T8395 T8382 punct .,show
R2250 T8300 T8297 prep for,site
R2251 T8397 T8398 advmod Currently,precludes
R2252 T8398 T8409 ccomp precludes,are
R2253 T8399 T8398 punct ", ",precludes
R2254 T8301 T8300 pobj ITPR1,for
R2255 T8400 T8401 det the,number
R2256 T8401 T8398 nsubj number,precludes
R2257 T8302 T8303 dep that,result
R2258 T8402 T8401 amod small,number
R2259 T8403 T8401 prep of,number
R2260 T8404 T8405 amod aged,animals
R2261 T8303 T8297 relcl result,site
R2262 T8405 T8403 pobj animals,of
R2263 T8406 T8407 compound Itpr1wt,Δ18
R2264 T8407 T8405 compound Δ18,animals
R2265 T8304 T8303 aux may,result
R2266 T8408 T8407 punct /,Δ18
R2267 T8410 T8398 dobj us,precludes
R2268 T8305 T8303 prep in,result
R2269 T8411 T8398 prep from,precludes
R2270 T8412 T8411 pcomp examining,from
R2271 T8413 T8414 det these,mice
R2272 T8414 T8412 dobj mice,examining
R2273 T8415 T8412 prep for,examining
R2274 T8306 T8307 det a,product
R2275 T8416 T8417 amod subtle,signs
R2276 T8417 T8415 pobj signs,for
R2277 T8418 T8417 cc and,signs
R2278 T8307 T8305 pobj product,in
R2279 T8419 T8417 conj symptoms,signs
R2280 T8420 T8417 amod similar,signs
R2281 T8421 T8420 prep to,similar
R2282 T8308 T8309 dep that,confers
R2283 T8422 T8421 pobj those,to
R2284 T8423 T8422 acl seen,those
R2285 T8309 T8307 relcl confers,product
R2286 T8424 T8423 prep in,seen
R2287 T8425 T8426 compound SCA15,patients
R2288 T8426 T8424 pobj patients,in
R2289 T8310 T8311 det a,gain
R2290 T8427 T8409 punct ;,are
R2291 T8428 T8409 advmod however,are
R2292 T8429 T8409 punct ", ",are
R2293 T8311 T8309 dobj gain,confers
R2294 T8430 T8431 det these,mice
R2295 T8431 T8409 nsubj mice,are
R2296 T8432 T8409 advmod clearly,are
R2297 T8433 T8409 prep of,are
R2298 T8312 T8311 amod pathogenic,gain
R2299 T8434 T8433 pobj interest,of
R2300 T8435 T8434 prep to,interest
R2301 T8313 T8311 prep of,gain
R2302 T8436 T8435 pobj us,to
R2303 T8437 T8409 prep as,are
R2304 T8438 T8439 det a,model
R2305 T8314 T8313 pobj function,of
R2306 T8439 T8437 pobj model,as
R2307 T8440 T8439 amod potential,model
R2308 T8441 T8439 prep of,model
R2309 T8315 T8309 prep to,confers
R2310 T8442 T8441 pobj SCA15,of
R2311 T8443 T8409 punct .,are
R2312 T8316 T8317 det the,protein
R2313 T8445 T8446 det These,data
R2314 T8446 T8447 nsubj data,demonstrate
R2315 T8317 T8315 pobj protein,to
R2316 T8448 T8447 advmod also,demonstrate
R2317 T8318 T8286 punct ;,failed
R2318 T8449 T8450 mark that,facilitate
R2319 T8450 T8447 ccomp facilitate,demonstrate
R2320 T8451 T8452 npadvmod genome,wide
R2321 T8452 T8454 amod wide,assay
R2322 T8453 T8452 punct -,wide
R2323 T8454 T8450 nsubj assay,facilitate
R2324 T8319 T8286 advmod however,failed
R2325 T8455 T8454 compound SNP,assay
R2326 T8456 T8450 aux can,facilitate
R2327 T8457 T8458 amod rapid,detection
R2328 T8458 T8450 dobj detection,facilitate
R2329 T8320 T8286 punct ", ",failed
R2330 T8459 T8458 prep of,detection
R2331 T8460 T8461 amod structural,mutations
R2332 T8461 T8459 pobj mutations,of
R2333 T8321 T8322 compound Western,blot
R2334 T8462 T8461 amod genomic,mutations
R2335 T8463 T8464 dep that,underlie
R2336 T8322 T8323 compound blot,analysis
R2337 T8464 T8461 relcl underlie,mutations
R2338 T8465 T8464 aux may,underlie
R2339 T8466 T8464 dobj disease,underlie
R2340 T8323 T8286 nsubj analysis,failed
R2341 T8467 T8447 punct .,demonstrate
R2342 T8324 T8323 prep of,analysis
R2343 T8469 T8470 det The,data
R2344 T8470 T8471 nsubj data,provide
R2345 T8325 T8324 pobj cells,of
R2346 T8472 T8470 acl provided,data
R2347 T8326 T8325 acl derived,cells
R2348 T8327 T8326 prep from,derived
R2349 T8473 T8472 agent by,provided
R2350 T8474 T8475 det these,approaches
R2351 T8328 T8329 amod affected,members
R2352 T8475 T8473 pobj approaches,by
R2353 T8476 T8477 amod compelling,evidence
R2354 T8329 T8327 pobj members,from
R2355 T8477 T8471 dobj evidence,provide
R2356 T8478 T8479 mark that,causes
R2357 T8479 T8477 acl causes,evidence
R2358 T8330 T8331 compound AUS1,family
R2359 T8480 T8481 amod heterozygous,deletion
R2360 T8331 T8329 compound family,members
R2361 T8332 T8323 punct ", ",analysis
R2362 T8481 T8479 nsubj deletion,causes
R2363 T8333 T8334 dep which,performed
R2364 T8482 T8481 prep of,deletion
R2365 T8483 T8482 pobj ITPR1,of
R2366 T8484 T8479 dobj SCA15,causes
R2367 T8334 T8323 relcl performed,analysis
R2368 T8485 T8471 punct .,provide
R2369 T8335 T8334 auxpass was,performed
R2370 T8487 T8488 advmod Clearly,provide
R2371 T8488 T8499 ccomp provide,means
R2372 T8336 T8334 advcl using,performed
R2373 T8337 T8338 det an,antibody
R2374 T8338 T8336 dobj antibody,using
R2375 T8489 T8488 punct ", ",provide
R2376 T8339 T8338 acl raised,antibody
R2377 T8490 T8491 compound sequence,analysis
R2378 T8491 T8488 nsubj analysis,provide
R2379 T8340 T8339 prep against,raised
R2380 T8492 T8491 prep of,analysis
R2381 T8493 T8492 pobj ITPR1,of
R2382 T8494 T8493 prep in,ITPR1
R2383 T8341 T8342 det the,portion
R2384 T8495 T8496 amod potential,cases
R2385 T8496 T8494 pobj cases,in
R2386 T8342 T8340 pobj portion,against
R2387 T8497 T8496 compound SCA15,cases
R2388 T8498 T8488 aux may,provide
R2389 T8343 T8344 npadvmod C,terminal
R2390 T8500 T8501 amod additional,insight
R2391 T8501 T8488 dobj insight,provide
R2392 T8344 T8342 amod terminal,portion
R2393 T8502 T8501 prep into,insight
R2394 T8503 T8504 det the,disease
R2395 T8504 T8502 pobj disease,into
R2396 T8345 T8344 punct -,terminal
R2397 T8505 T8488 punct ", ",provide
R2398 T8506 T8507 advmod particularly,were
R2399 T8507 T8488 advcl were,provide
R2400 T8346 T8342 prep of,portion
R2401 T8508 T8507 mark if,were
R2402 T8509 T8510 det a,mutation
R2403 T8347 T8346 pobj ITPR1,of
R2404 T8510 T8507 nsubj mutation,were
R2405 T8511 T8510 compound stop,mutation
R2406 T8512 T8513 aux to,identified
R2407 T8348 T8286 punct ", ",failed
R2408 T8513 T8507 xcomp identified,were
R2409 T8514 T8513 auxpass be,identified
R2410 T8515 T8499 punct ;,means
R2411 T8349 T8350 aux to,identify
R2412 T8516 T8499 advmod however,means
R2413 T8517 T8499 punct ", ",means
R2414 T8350 T8286 xcomp identify,failed
R2415 T8518 T8519 det the,mechanism
R2416 T8519 T8499 nsubj mechanism,means
R2417 T8520 T8519 amod mutational,mechanism
R2418 T8351 T8352 det any,products
R2419 T8521 T8519 acl noted,mechanism
R2420 T8522 T8521 advmod here,noted
R2421 T8352 T8350 dobj products,identify
R2422 T8523 T8524 mark that,required
R2423 T8524 T8499 ccomp required,means
R2424 T8525 T8526 amod standard,approaches
R2425 T8526 T8528 nsubj approaches,are
R2426 T8527 T8526 compound sequencing,approaches
R2427 T8528 T8524 ccomp are,required
R2428 T8353 T8354 npadvmod disease,specific
R2429 T8529 T8526 advmod alone,approaches
R2430 T8530 T8528 acomp insufficient,are
R2431 T8354 T8352 amod specific,products
R2432 T8531 T8532 aux to,rule
R2433 T8532 T8530 xcomp rule,insufficient
R2434 T8533 T8532 advmod confidently,rule
R2435 T8355 T8354 punct -,specific
R2436 T8534 T8532 prt out,rule
R2437 T8535 T8536 compound ITPR1,mutation
R2438 T8536 T8532 dobj mutation,rule
R2439 T8356 T8357 amod truncated,protein
R2440 T8537 T8532 prep as,rule
R2441 T8538 T8539 det a,cause
R2442 T8357 T8352 compound protein,products
R2443 T8539 T8537 pobj cause,as
R2444 T8540 T8539 prep of,cause
R2445 T8358 T8286 punct .,failed
R2446 T8541 T8540 pobj disease,of
R2447 T8542 T8524 punct : ,required
R2448 T8360 T8361 advmod Clearly,help
R2449 T8543 T8544 det a,approach
R2450 T8544 T8524 nsubjpass approach,required
R2451 T8545 T8544 amod comprehensive,approach
R2452 T8546 T8547 compound gene,dosage
R2453 T8362 T8361 punct ", ",help
R2454 T8547 T8544 compound dosage,approach
R2455 T8548 T8524 auxpass is,required
R2456 T8549 T8524 advmod also,required
R2457 T8550 T8499 punct .,means
R2458 T8363 T8364 det the,identification
R2459 T8552 T8553 prep Given,is
R2460 T8364 T8361 nsubj identification,help
R2461 T8554 T8555 mark that,mapped
R2462 T8365 T8364 prep of,identification
R2463 T8366 T8367 amod distinct,mutations
R2464 T8555 T8552 pcomp mapped,Given
R2465 T8556 T8555 nsubjpass SCA16,mapped
R2466 T8557 T8556 cc and,SCA16
R2467 T8367 T8365 pobj mutations,of
R2468 T8558 T8559 amod autosomal,ataxia
R2469 T8559 T8556 conj ataxia,SCA16
R2470 T8368 T8367 compound ITPR1,mutations
R2471 T8560 T8559 amod dominant,ataxia
R2472 T8561 T8559 amod congenital,ataxia
R2473 T8369 T8367 acl underlying,mutations
R2474 T8562 T8559 amod nonprogressive,ataxia
R2475 T8563 T8555 aux have,mapped
R2476 T8564 T8555 dep both,mapped
R2477 T8565 T8555 advmod recently,mapped
R2478 T8566 T8555 auxpass been,mapped
R2479 T8370 T8369 dobj SCA15,underlying
R2480 T8567 T8555 prep to,mapped
R2481 T8568 T8567 pobj regions,to
R2482 T8569 T8568 acl overlapping,regions
R2483 T8371 T8361 aux will,help
R2484 T8570 T8569 prep with,overlapping
R2485 T8571 T8572 det the,locus
R2486 T8572 T8570 pobj locus,with
R2487 T8372 T8361 xcomp elucidate,help
R2488 T8573 T8572 compound SCA15,locus
R2489 T8574 T8575 punct [,11
R2490 T8373 T8374 det the,mechanism
R2491 T8575 T8555 parataxis 11,mapped
R2492 T8576 T8575 nummod 10,11
R2493 T8577 T8575 punct ",",11
R2494 T8374 T8372 dobj mechanism,elucidate
R2495 T8578 T8575 punct ],11
R2496 T8579 T8553 punct ", ",is
R2497 T8580 T8553 nsubj ITPR1,is
R2498 T8375 T8374 amod pathogenic,mechanism
R2499 T8581 T8582 det a,gene
R2500 T8582 T8553 attr gene,is
R2501 T8376 T8374 prep of,mechanism
R2502 T8583 T8582 prep of,gene
R2503 T8584 T8583 pobj importance,of
R2504 T8585 T8584 prep for,importance
R2505 T8586 T8585 pobj screening,for
R2506 T8377 T8378 det this,disorder
R2507 T8587 T8553 prep in,is
R2508 T8588 T8589 det these,families
R2509 T8589 T8587 pobj families,in
R2510 T8378 T8376 pobj disorder,of
R2511 T8590 T8553 punct .,is
R2512 T8379 T8361 punct .,help
R2513 T8592 T8593 det These,data
R2514 T8593 T8594 nsubj data,add
R2515 T8381 T8382 nsubj We,show
R2516 T8595 T8594 dobj weight,add
R2517 T8596 T8594 prep to,add
R2518 T8597 T8598 det a,role
R2519 T8598 T8596 pobj role,to
R2520 T8599 T8598 prep for,role
R2521 T8600 T8601 amod aberrant,signaling
R2522 T8601 T8599 pobj signaling,for
R2523 T8602 T8601 amod intracellular,signaling
R2524 T8603 T8601 compound Ca2+,signaling
R2525 T8604 T8601 prep in,signaling
R2526 T8605 T8606 compound Purkinje,cells
R2527 T8606 T8604 pobj cells,in
R2528 T8607 T8598 prep in,role
R2529 T8608 T8609 det the,pathogenesis
R2530 T8609 T8607 pobj pathogenesis,in
R2531 T8610 T8609 prep of,pathogenesis
R2532 T8611 T8612 amod spinocerebellar,ataxia
R2533 T8612 T8610 pobj ataxia,of
R2534 T8613 T8594 punct .,add
R4199 T14400 T14399 cc and,Immunohistochemistry
R4200 T14401 T14402 compound Western,Blot
R4201 T14402 T14403 compound Blot,Analysis
R4202 T14403 T14399 conj Analysis,Immunohistochemistry
R4203 T14404 T14399 prep of,Immunohistochemistry
R4204 T14405 T14406 compound ITPR1,Levels
R4205 T14406 T14404 pobj Levels,of
R4206 T14407 T14406 compound Protein,Levels
R4207 T14408 T14406 prep in,Levels
R4208 T14409 T14410 compound Mouse,Cerebellum
R4209 T14410 T14408 pobj Cerebellum,in
R4210 T14412 T14413 punct (,A
R4211 T14413 T14414 meta A,Immunohistochemistry
R4212 T14415 T14413 punct –,A
R4213 T14416 T14413 dep F,A
R4214 T14417 T14413 punct ),A
R4215 T14418 T14414 prep of,Immunohistochemistry
R4216 T14419 T14418 pobj cerebellum,of
R4217 T14420 T14419 prep from,cerebellum
R4218 T14421 T14422 det a,mouse
R4219 T14422 T14420 pobj mouse,from
R4220 T14423 T14424 amod wild,type
R4221 T14424 T14422 compound type,mouse
R4222 T14425 T14424 punct -,type
R4223 T14426 T14427 punct (,A
R4224 T14427 T14422 parataxis A,mouse
R4225 T14428 T14427 cc and,A
R4226 T14429 T14427 conj D,A
R4227 T14430 T14427 punct ),A
R4228 T14431 T14422 punct ", ",mouse
R4229 T14432 T14433 det a,mouse
R4230 T14433 T14422 conj mouse,mouse
R4231 T14434 T14433 amod heterozygous,mouse
R4232 T14435 T14434 prep for,heterozygous
R4233 T14436 T14437 det the,deletion
R4234 T14437 T14435 pobj deletion,for
R4235 T14438 T14437 nmod Itpr1,deletion
R4236 T14439 T14440 nummod 18,bp
R4237 T14440 T14437 compound bp,deletion
R4238 T14441 T14440 punct -,bp
R4239 T14442 T14443 punct (,B
R4240 T14443 T14433 parataxis B,mouse
R4241 T14444 T14443 cc and,B
R4242 T14445 T14443 conj E,B
R4243 T14446 T14443 punct ),B
R4244 T14447 T14433 punct ", ",mouse
R4245 T14448 T14433 cc and,mouse
R4246 T14449 T14450 det a,mouse
R4247 T14450 T14433 conj mouse,mouse
R4248 T14451 T14450 amod homozygous,mouse
R4249 T14452 T14451 prep for,homozygous
R4250 T14453 T14454 det the,deletion
R4251 T14454 T14452 pobj deletion,for
R4252 T14455 T14456 nummod 18,bp
R4253 T14456 T14454 compound bp,deletion
R4254 T14457 T14456 punct -,bp
R4255 T14458 T14454 compound Itpr1,deletion
R4256 T14459 T14460 punct (,C
R4257 T14460 T14450 parataxis C,mouse
R4258 T14461 T14460 cc and,C
R4259 T14462 T14460 conj F,C
R4260 T14463 T14460 punct ),C
R4261 T14464 T14414 punct .,Immunohistochemistry
R4262 T14466 T14467 punct (,A
R4263 T14467 T14468 meta A,Immunohistochemistry
R4264 T14469 T14467 punct –,A
R4265 T14470 T14467 dep C,A
R4266 T14471 T14467 punct ),A
R4267 T14472 T14468 acl using,Immunohistochemistry
R4268 T14473 T14474 amod polyclonal,antibody
R4269 T14474 T14472 dobj antibody,using
R4270 T14475 T14474 nmod Itpr1,antibody
R4271 T14476 T14474 amod anti-rabbit,antibody
R4272 T14477 T14478 punct (,Fluor
R4273 T14478 T14474 parataxis Fluor,antibody
R4274 T14479 T14478 dep 1,Fluor
R4275 T14480 T14481 punct :,"2,000"
R4276 T14481 T14479 prep "2,000",1
R4277 T14482 T14478 punct ;,Fluor
R4278 T14483 T14478 compound Alexa,Fluor
R4279 T14484 T14478 nummod 555,Fluor
R4280 T14485 T14478 punct ),Fluor
R4281 T14486 T14468 punct ;,Immunohistochemistry
R4282 T14487 T14488 punct (,D
R4283 T14488 T14489 meta D,immunohistochemistry
R4284 T14489 T14468 appos immunohistochemistry,Immunohistochemistry
R4285 T14490 T14488 punct –,D
R4286 T14491 T14488 dep F,D
R4287 T14492 T14488 punct ),D
R4288 T14493 T14489 acl using,immunohistochemistry
R4289 T14494 T14495 amod monoclonal,antibody
R4290 T14495 T14493 dobj antibody,using
R4291 T14496 T14495 nmod Calb1,antibody
R4292 T14497 T14495 amod anti-mouse,antibody
R4293 T14498 T14499 punct (,Fluor
R4294 T14499 T14495 parataxis Fluor,antibody
R4295 T14500 T14499 dep 1,Fluor
R4296 T14501 T14502 punct :,"6,000"
R4297 T14502 T14500 prep "6,000",1
R4298 T14503 T14499 punct ;,Fluor
R4299 T14504 T14499 compound Alexa,Fluor
R4300 T14505 T14499 nummod 488,Fluor
R4301 T14506 T14499 punct ),Fluor
R4302 T14507 T14468 punct .,Immunohistochemistry
R4303 T14509 T14510 compound Scale,bars
R4304 T14510 T14511 nsubj bars,denote
R4305 T14512 T14513 nummod 100,μm
R4306 T14513 T14511 dobj μm,denote
R4307 T14514 T14511 punct .,denote
R4308 T14516 T14517 mark As,described
R4309 T14517 T14519 advcl described,expressed
R4310 T14518 T14517 advmod previously,described
R4311 T14520 T14519 punct ", ",expressed
R4312 T14521 T14519 nsubjpass Iptr1,expressed
R4313 T14522 T14519 auxpass is,expressed
R4314 T14523 T14519 advmod highly,expressed
R4315 T14524 T14519 prep in,expressed
R4316 T14525 T14526 det the,cells
R4317 T14526 T14524 pobj cells,in
R4318 T14527 T14526 compound Purkinje,cells
R4319 T14528 T14519 punct .,expressed
R4320 T14530 T14531 advmod Notably,appears
R4321 T14532 T14531 punct ", ",appears
R4322 T14533 T14531 expl there,appears
R4323 T14534 T14535 aux to,be
R4324 T14535 T14531 xcomp be,appears
R4325 T14536 T14537 amod decreased,immunoreactivity
R4326 T14537 T14535 attr immunoreactivity,be
R4327 T14538 T14537 prep to,immunoreactivity
R4328 T14539 T14538 pobj Itpr1,to
R4329 T14540 T14535 prep in,be
R4330 T14541 T14542 det the,mice
R4331 T14542 T14540 pobj mice,in
R4332 T14543 T14542 amod heterozygous,mice
R4333 T14544 T14543 cc and,heterozygous
R4334 T14545 T14543 conj homozygous,heterozygous
R4335 T14546 T14542 compound mutant,mice
R4336 T14547 T14531 punct .,appears
R4337 T14549 T14550 punct (,G
R4338 T14550 T14551 meta G,shows
R4339 T14552 T14550 punct ),G
R4340 T14553 T14554 compound Western,blot
R4341 T14554 T14551 dep blot,shows
R4342 T14555 T14554 acl performed,blot
R4343 T14556 T14557 aux to,examine
R4344 T14557 T14555 advcl examine,performed
R4345 T14558 T14559 compound Itpr1,levels
R4346 T14559 T14557 dobj levels,examine
R4347 T14560 T14557 prep in,examine
R4348 T14561 T14562 amod whole,brain
R4349 T14562 T14560 pobj brain,in
R4350 T14563 T14562 prep from,brain
R4351 T14564 T14565 amod wild,type
R4352 T14565 T14567 nmod type,mice
R4353 T14566 T14565 punct -,type
R4354 T14567 T14563 pobj mice,from
R4355 T14568 T14565 punct ", ",type
R4356 T14569 T14570 compound Itpr1wt,Δ18
R4357 T14570 T14565 conj Δ18,type
R4358 T14571 T14570 punct /,Δ18
R4359 T14572 T14570 punct ", ",Δ18
R4360 T14573 T14570 cc and,Δ18
R4361 T14574 T14575 compound Itpr1Δ18,Δ18
R4362 T14575 T14570 conj Δ18,Δ18
R4363 T14576 T14575 punct /,Δ18
R4364 T14577 T14551 punct ;,shows
R4365 T14578 T14551 nsubj this,shows
R4366 T14579 T14551 advmod clearly,shows
R4367 T14580 T14581 det a,reduction
R4368 T14581 T14551 dobj reduction,shows
R4369 T14582 T14581 prep of,reduction
R4370 T14583 T14582 pobj Itpr1,of
R4371 T14584 T14581 prep in,reduction
R4372 T14585 T14586 compound brain,tissue
R4373 T14586 T14584 pobj tissue,in
R4374 T14587 T14586 prep from,tissue
R4375 T14588 T14589 compound Itpr1wt,Δ18
R4376 T14589 T14591 compound Δ18,mice
R4377 T14590 T14589 punct /,Δ18
R4378 T14591 T14587 pobj mice,from
R4379 T14592 T14581 cc and,reduction
R4380 T14593 T14594 det a,reduction
R4381 T14594 T14581 conj reduction,reduction
R4382 T14595 T14594 amod greater,reduction
R4383 T14596 T14594 prep of,reduction
R4384 T14597 T14596 pobj Itpr1,of
R4385 T14598 T14594 prep in,reduction
R4386 T14599 T14600 compound Itpr1Δ18,Δ18
R4387 T14600 T14602 compound Δ18,mice
R4388 T14601 T14600 punct /,Δ18
R4389 T14602 T14598 pobj mice,in
R4390 T14603 T14551 punct .,shows
R4391 T15070 T15069 acl Derived,Metrics
R4392 T15071 T15070 prep from,Derived
R4393 T15072 T15071 pobj Analysis,from
R4394 T15073 T15072 prep of,Analysis
R4395 T15074 T15073 pobj DNA,of
R4396 T15075 T15074 prep from,DNA
R4397 T15076 T15077 amod Affected,Member
R4398 T15077 T15075 pobj Member,from
R4399 T15078 T15077 compound Family,Member
R4400 T15079 T15077 nummod 7,Member
R4401 T15080 T15070 advcl Using,Derived
R4402 T15081 T15082 compound Illumina,HumanHap550
R4403 T15082 T15084 compound HumanHap550,Chips
R4404 T15083 T15082 compound Infinium,HumanHap550
R4405 T15084 T15080 dobj Chips,Using
R4406 T15085 T15084 compound Genotyping,Chips
R4407 T15087 T15088 det The,plots
R4408 T15088 T15092 nsubj plots,are
R4409 T15089 T15088 amod upper,plots
R4410 T15090 T15089 cc and,upper
R4411 T15091 T15089 conj lower,upper
R4412 T15093 T15094 compound log,R
R4413 T15094 T15095 compound R,ratio
R4414 T15095 T15092 attr ratio,are
R4415 T15096 T15095 cc and,ratio
R4416 T15097 T15098 compound B,allele
R4417 T15098 T15099 compound allele,frequency
R4418 T15099 T15095 conj frequency,ratio
R4419 T15100 T15092 punct ", ",are
R4420 T15101 T15092 advmod respectively,are
R4421 T15102 T15092 punct ", ",are
R4422 T15103 T15092 prep at,are
R4423 T15104 T15105 det an,segment
R4424 T15105 T15103 pobj segment,at
R4425 T15106 T15107 punct ~,800
R4426 T15107 T15108 nummod 800,kb
R4427 T15108 T15105 compound kb,segment
R4428 T15109 T15108 punct -,kb
R4429 T15110 T15105 prep on,segment
R4430 T15111 T15112 det the,arm
R4431 T15112 T15110 pobj arm,on
R4432 T15113 T15112 compound p,arm
R4433 T15114 T15112 prep of,arm
R4434 T15115 T15114 pobj Chromosome,of
R4435 T15116 T15115 nummod 3,Chromosome
R4436 T15117 T15092 punct .,are
R4437 T15119 T15120 compound Log,R
R4438 T15120 T15121 compound R,ratio
R4439 T15121 T15122 nsubj ratio,is
R4440 T15123 T15124 det the,ratio
R4441 T15124 T15122 attr ratio,is
R4442 T15125 T15124 prep of,ratio
R4443 T15126 T15127 amod normalized,R
R4444 T15127 T15125 pobj R,of
R4445 T15128 T15127 punct ", ",R
R4446 T15129 T15127 amod observed,R
R4447 T15130 T15124 prep to,ratio
R4448 T15131 T15132 amod expected,R
R4449 T15132 T15130 pobj R,to
R4450 T15133 T15124 prep for,ratio
R4451 T15134 T15135 det each,SNP
R4452 T15135 T15133 pobj SNP,for
R4453 T15136 T15137 punct (,is
R4454 T15137 T15124 parataxis is,ratio
R4455 T15138 T15139 det each,SNP
R4456 T15139 T15137 nsubj SNP,is
R4457 T15140 T15141 det a,dot
R4458 T15141 T15137 attr dot,is
R4459 T15142 T15141 amod blue,dot
R4460 T15143 T15137 punct ),is
R4461 T15144 T15122 cc and,is
R4462 T15145 T15146 advmod thus,serves
R4463 T15146 T15122 conj serves,is
R4464 T15147 T15146 prep as,serves
R4465 T15148 T15149 det a,surrogate
R4466 T15149 T15147 pobj surrogate,as
R4467 T15150 T15149 prep of,surrogate
R4468 T15151 T15152 compound copy,number
R4469 T15152 T15150 pobj number,of
R4470 T15153 T15146 prep at,serves
R4471 T15154 T15155 det each,locus
R4472 T15155 T15153 pobj locus,at
R4473 T15156 T15122 punct .,is
R4474 T15158 T15159 compound B,allele
R4475 T15159 T15160 compound allele,frequency
R4476 T15160 T15161 nsubj frequency,is
R4477 T15162 T15163 det a,measure
R4478 T15163 T15161 attr measure,is
R4479 T15164 T15163 prep of,measure
R4480 T15165 T15166 det the,number
R4481 T15166 T15164 pobj number,of
R4482 T15167 T15166 prep of,number
R4483 T15168 T15167 pobj times,of
R4484 T15169 T15170 det the,alleles
R4485 T15170 T15174 nsubjpass alleles,detected
R4486 T15171 T15170 nmod A,alleles
R4487 T15172 T15171 cc or,A
R4488 T15173 T15171 conj B,A
R4489 T15174 T15168 advcl detected,times
R4490 T15175 T15174 auxpass are,detected
R4491 T15176 T15174 prep at,detected
R4492 T15177 T15178 det each,locus
R4493 T15178 T15176 pobj locus,at
R4494 T15179 T15180 punct (,denoted
R4495 T15180 T15161 parataxis denoted,is
R4496 T15181 T15182 det each,SNP
R4497 T15182 T15180 nsubjpass SNP,denoted
R4498 T15183 T15180 auxpass is,denoted
R4499 T15184 T15180 agent by,denoted
R4500 T15185 T15186 det a,dot
R4501 T15186 T15184 pobj dot,by
R4502 T15187 T15186 amod blue,dot
R4503 T15188 T15180 punct ),denoted
R4504 T15189 T15161 punct .,is
R4505 T15191 T15192 advmod Thus,are
R4506 T15193 T15192 punct ", ",are
R4507 T15194 T15195 nsubj SNPs,are
R4508 T15195 T15192 ccomp are,are
R4509 T15196 T15194 prep with,SNPs
R4510 T15197 T15198 det a,frequency
R4511 T15198 T15196 pobj frequency,with
R4512 T15199 T15200 compound B,allele
R4513 T15200 T15198 compound allele,frequency
R4514 T15201 T15198 prep of,frequency
R4515 T15202 T15201 pobj one,of
R4516 T15203 T15204 amod apparent,homozygotes
R4517 T15204 T15195 attr homozygotes,are
R4518 T15205 T15206 compound B,B
R4519 T15206 T15204 compound B,homozygotes
R4520 T15207 T15206 punct /,B
R4521 T15208 T15192 punct ", ",are
R4522 T15209 T15192 nsubj SNPs,are
R4523 T15210 T15209 prep with,SNPs
R4524 T15211 T15212 det a,frequency
R4525 T15212 T15210 pobj frequency,with
R4526 T15213 T15214 compound B,allele
R4527 T15214 T15212 compound allele,frequency
R4528 T15215 T15212 prep of,frequency
R4529 T15216 T15215 pobj 0.5,of
R4530 T15217 T15218 amod apparent,heterozygotes
R4531 T15218 T15192 attr heterozygotes,are
R4532 T15219 T15220 compound A,B
R4533 T15220 T15218 compound B,heterozygotes
R4534 T15221 T15220 punct /,B
R4535 T15222 T15192 punct ", ",are
R4536 T15223 T15192 cc and,are
R4537 T15224 T15225 nsubj those,are
R4538 T15225 T15192 conj are,are
R4539 T15226 T15224 prep with,those
R4540 T15227 T15228 det a,frequency
R4541 T15228 T15226 pobj frequency,with
R4542 T15229 T15230 compound B,allele
R4543 T15230 T15228 compound allele,frequency
R4544 T15231 T15228 prep of,frequency
R4545 T15232 T15231 pobj zero,of
R4546 T15233 T15234 amod apparent,homozygotes
R4547 T15234 T15225 attr homozygotes,are
R4548 T15235 T15236 compound A,A
R4549 T15236 T15234 compound A,homozygotes
R4550 T15237 T15236 punct /,A
R4551 T15238 T15225 punct .,are
R4552 T15240 T15241 advmod Clearly,show
R4553 T15242 T15241 punct ", ",show
R4554 T15243 T15244 det these,plots
R4555 T15244 T15241 nsubj plots,show
R4556 T15245 T15246 det a,region
R4557 T15246 T15241 dobj region,show
R4558 T15247 T15246 amod contiguous,region
R4559 T15248 T15249 punct ~,200
R4560 T15249 T15250 nummod 200,kb
R4561 T15250 T15251 npadvmod kb,long
R4562 T15251 T15246 amod long,region
R4563 T15252 T15246 prep with,region
R4564 T15253 T15254 amod decreased,number
R4565 T15254 T15252 pobj number,with
R4566 T15255 T15254 compound copy,number
R4567 T15256 T15254 cc and,number
R4568 T15257 T15258 amod apparent,homozygosity
R4569 T15258 T15254 conj homozygosity,number
R4570 T15259 T15246 punct (,region
R4571 T15260 T15246 acl bounded,region
R4572 T15261 T15260 agent by,bounded
R4573 T15262 T15263 det a,box
R4574 T15263 T15261 pobj box,by
R4575 T15264 T15263 amod red,box
R4576 T15265 T15241 punct ),show
R4577 T15266 T15241 punct .,show
R4578 T15268 T15269 mark As,demonstrated
R4579 T15269 T15272 advcl demonstrated,is
R4580 T15270 T15269 nsubj we,demonstrated
R4581 T15271 T15269 aux have,demonstrated
R4582 T15273 T15269 advmod previously,demonstrated
R4583 T15274 T15272 punct ", ",is
R4584 T15275 T15272 nsubj this,is
R4585 T15276 T15272 acomp indicative,is
R4586 T15277 T15276 prep of,indicative
R4587 T15278 T15279 det a,deletion
R4588 T15279 T15277 pobj deletion,of
R4589 T15280 T15279 amod heterozygous,deletion
R4590 T15281 T15279 amod genomic,deletion
R4591 T15282 T15283 punct [,15
R4592 T15283 T15272 parataxis 15,is
R4593 T15284 T15283 punct ],15
R4594 T15285 T15272 punct .,is
R4595 T15287 T15288 prep Below,is
R4596 T15289 T15290 det these,plots
R4597 T15290 T15287 pobj plots,Below
R4598 T15291 T15292 det a,schematic
R4599 T15292 T15288 nsubj schematic,is
R4600 T15293 T15292 prep of,schematic
R4601 T15294 T15295 det the,genes
R4602 T15295 T15293 pobj genes,of
R4603 T15296 T15295 nummod two,genes
R4604 T15297 T15295 amod known,genes
R4605 T15298 T15295 acl affected,genes
R4606 T15299 T15298 agent by,affected
R4607 T15300 T15301 det this,deletion
R4608 T15301 T15299 pobj deletion,by
R4609 T15302 T15295 punct ", ",genes
R4610 T15303 T15295 appos ITPR1,genes
R4611 T15304 T15303 cc and,ITPR1
R4612 T15305 T15303 conj SUMF1,ITPR1
R4613 T15306 T15288 punct .,is
R4614 T15781 T15782 compound Mutation,Analysis
R4615 T15783 T15782 prep in,Analysis
R4616 T15784 T15785 det the,Family
R4617 T15785 T15783 pobj Family,in
R4618 T15786 T15785 amod Australian,Family
R4619 T15787 T15785 compound SCA15,Family
R4620 T15789 T15790 punct (,Top
R4621 T15790 T15791 parataxis Top,Pedigree
R4622 T15792 T15790 punct ),Top
R4623 T15793 T15791 prep of,Pedigree
R4624 T15794 T15793 pobj kindred,of
R4625 T15795 T15791 punct .,Pedigree
R4626 T15797 T15798 amod Filled,symbols
R4627 T15798 T15799 nsubj symbols,denote
R4628 T15799 T15800 ccomp denote,denotes
R4629 T15801 T15802 amod affected,individuals
R4630 T15802 T15799 dobj individuals,denote
R4631 T15803 T15800 punct ;,denotes
R4632 T15804 T15805 amod open,symbols
R4633 T15805 T15806 nsubj symbols,individuals
R4634 T15806 T15800 ccomp individuals,denotes
R4635 T15807 T15806 punct ", ",individuals
R4636 T15808 T15806 amod unaffected,individuals
R4637 T15809 T15800 punct ;,denotes
R4638 T15810 T15811 amod grey,symbol
R4639 T15811 T15812 nsubj symbol,denotes
R4640 T15812 T15800 ccomp denotes,denotes
R4641 T15813 T15814 amod unknown,status
R4642 T15814 T15812 dobj status,denotes
R4643 T15815 T15814 compound disease,status
R4644 T15816 T15800 punct ;,denotes
R4645 T15817 T15818 compound bulls,eye
R4646 T15818 T15820 compound eye,symbol
R4647 T15819 T15818 punct -,eye
R4648 T15820 T15800 nsubj symbol,denotes
R4649 T15821 T15822 amod obligate,carrier
R4650 T15822 T15800 dobj carrier,denotes
R4651 T15823 T15800 punct .,denotes
R4652 T15825 T15826 compound w,w
R4653 T15827 T15826 punct /,w
R4654 T15828 T15826 punct ", ",w
R4655 T15829 T15830 amod wild,type
R4656 T15830 T15826 appos type,w
R4657 T15831 T15830 punct -,type
R4658 T15832 T15830 prep at,type
R4659 T15833 T15832 pobj ITPR1,at
R4660 T15834 T15826 punct ;,w
R4661 T15835 T15836 compound w,m
R4662 T15836 T15826 appos m,w
R4663 T15837 T15836 punct /,m
R4664 T15838 T15836 punct ", ",m
R4665 T15839 T15840 amod heterozygous,carrier
R4666 T15840 T15836 appos carrier,m
R4667 T15841 T15840 prep of,carrier
R4668 T15842 T15843 det the,deletion
R4669 T15843 T15841 pobj deletion,of
R4670 T15844 T15843 compound ITPR1,deletion
R4671 T15845 T15826 punct .,w
R4672 T15847 T15848 punct (,Middle
R4673 T15848 T15849 parataxis Middle,Schematic
R4674 T15850 T15848 punct ),Middle
R4675 T15851 T15849 prep of,Schematic
R4676 T15852 T15853 compound primer,pairs
R4677 T15853 T15851 pobj pairs,of
R4678 T15854 T15853 acl used,pairs
R4679 T15855 T15856 aux to,narrow
R4680 T15856 T15854 advcl narrow,used
R4681 T15857 T15858 det the,regions
R4682 T15858 T15856 dobj regions,narrow
R4683 T15859 T15858 amod unknown,regions
R4684 T15860 T15858 prep between,regions
R4685 T15861 T15862 amod known,sequence
R4686 T15862 T15860 pobj sequence,between
R4687 T15863 T15862 amod deleted,sequence
R4688 T15864 T15862 cc and,sequence
R4689 T15865 T15866 amod known,sequence
R4690 T15866 T15862 conj sequence,sequence
R4691 T15867 T15866 amod diploid,sequence
R4692 T15868 T15856 prep at,narrow
R4693 T15869 T15870 det the,locus
R4694 T15870 T15868 pobj locus,at
R4695 T15871 T15870 compound SCA15,locus
R4696 T15872 T15849 punct .,Schematic
R4697 T15874 T15875 nummod Nine,pairs
R4698 T15875 T15877 nsubjpass pairs,used
R4699 T15876 T15875 compound primer,pairs
R4700 T15877 T15884 ccomp used,used
R4701 T15878 T15879 punct (,T1
R4702 T15879 T15875 parataxis T1,pairs
R4703 T15880 T15881 punct –,T9
R4704 T15881 T15879 prep T9,T1
R4705 T15882 T15879 punct ),T1
R4706 T15883 T15877 auxpass were,used
R4707 T15885 T15886 aux to,amplify
R4708 T15886 T15877 advcl amplify,used
R4709 T15887 T15886 prep across,amplify
R4710 T15888 T15889 det the,region
R4711 T15889 T15887 pobj region,across
R4712 T15890 T15889 amod unknown,region
R4713 T15891 T15889 amod telomeric,region
R4714 T15892 T15891 prep to,telomeric
R4715 T15893 T15894 det the,region
R4716 T15894 T15892 pobj region,to
R4717 T15895 T15894 amod known,region
R4718 T15896 T15894 amod deleted,region
R4719 T15897 T15884 punct ;,used
R4720 T15898 T15899 nummod 19,pairs
R4721 T15899 T15884 nsubjpass pairs,used
R4722 T15900 T15899 compound primer,pairs
R4723 T15901 T15902 punct (,C1
R4724 T15902 T15899 parataxis C1,pairs
R4725 T15903 T15904 punct –,C19
R4726 T15904 T15902 prep C19,C1
R4727 T15905 T15902 punct ),C1
R4728 T15906 T15884 auxpass were,used
R4729 T15907 T15908 aux to,amplify
R4730 T15908 T15884 advcl amplify,used
R4731 T15909 T15908 prep across,amplify
R4732 T15910 T15911 det the,region
R4733 T15911 T15909 pobj region,across
R4734 T15912 T15911 amod unknown,region
R4735 T15913 T15911 amod centromeric,region
R4736 T15914 T15908 prep to,amplify
R4737 T15915 T15916 det the,region
R4738 T15916 T15914 pobj region,to
R4739 T15917 T15916 amod known,region
R4740 T15918 T15916 amod deleted,region
R4741 T15919 T15884 punct .,used
R4742 T15921 T15922 det All,PCRs
R4743 T15922 T15923 nsubjpass PCRs,carried
R4744 T15924 T15923 auxpass were,carried
R4745 T15925 T15923 prt out,carried
R4746 T15926 T15923 prep in,carried
R4747 T15927 T15928 det the,members
R4748 T15928 T15926 pobj members,in
R4749 T15929 T15928 nummod three,members
R4750 T15930 T15928 amod affected,members
R4751 T15931 T15928 compound family,members
R4752 T15932 T15923 punct .,carried
R4753 T15934 T15935 nsubj Analysis,narrowed
R4754 T15936 T15934 prep of,Analysis
R4755 T15937 T15938 det these,data
R4756 T15938 T15936 pobj data,of
R4757 T15939 T15940 det the,region
R4758 T15940 T15935 dobj region,narrowed
R4759 T15941 T15940 amod unknown,region
R4760 T15942 T15935 punct ", ",narrowed
R4761 T15943 T15935 cc and,narrowed
R4762 T15944 T15945 advmod ultimately,were
R4763 T15945 T15935 conj were,narrowed
R4764 T15946 T15945 nsubj we,were
R4765 T15947 T15945 acomp able,were
R4766 T15948 T15949 aux to,use
R4767 T15949 T15947 xcomp use,able
R4768 T15950 T15949 dobj primer,use
R4769 T15951 T15950 appos T3f,primer
R4770 T15952 T15951 cc and,T3f
R4771 T15953 T15951 conj C11r,T3f
R4772 T15954 T15955 aux to,amplify
R4773 T15955 T15949 advcl amplify,use
R4774 T15956 T15955 prep across,amplify
R4775 T15957 T15958 det the,breakpoint
R4776 T15958 T15956 pobj breakpoint,across
R4777 T15959 T15958 compound deletion,breakpoint
R4778 T15960 T15955 prep in,amplify
R4779 T15961 T15962 det the,members
R4780 T15962 T15960 pobj members,in
R4781 T15963 T15962 nummod three,members
R4782 T15964 T15962 amod affected,members
R4783 T15965 T15962 compound family,members
R4784 T15966 T15955 punct ", ",amplify
R4785 T15967 T15955 advcl producing,amplify
R4786 T15968 T15969 det a,fragment
R4787 T15969 T15967 dobj fragment,producing
R4788 T15970 T15969 prep of,fragment
R4789 T15971 T15972 nummod 953,bp
R4790 T15972 T15970 pobj bp,of
R4791 T15973 T15967 prep in,producing
R4792 T15974 T15975 amod affected,individuals
R4793 T15975 T15973 pobj individuals,in
R4794 T15976 T15945 punct .,were
R4795 T15978 T15979 punct (,Bottom
R4796 T15979 T15980 parataxis Bottom,Gel
R4797 T15981 T15979 punct ),Bottom
R4798 T15982 T15980 acl showing,Gel
R4799 T15983 T15984 compound amplification,product
R4800 T15984 T15982 dobj product,showing
R4801 T15985 T15984 acl using,product
R4802 T15986 T15987 compound primer,pair
R4803 T15987 T15985 dobj pair,using
R4804 T15988 T15987 appos T3f,pair
R4805 T15989 T15988 cc and,T3f
R4806 T15990 T15988 conj C11r,T3f
R4807 T15991 T15987 prep from,pair
R4808 T15992 T15993 amod affected,6
R4809 T15993 T15991 pobj 6,from
R4810 T15994 T15993 nmod pedigree,6
R4811 T15995 T15993 nmod members,6
R4812 T15996 T15993 punct ", ",6
R4813 T15997 T15993 conj 7,6
R4814 T15998 T15997 punct ", ",7
R4815 T15999 T15997 cc and,7
R4816 T16000 T15997 conj 19,7
R4817 T16001 T15991 punct ;,from
R4818 T16002 T15991 conj in,from
R4819 T16003 T16004 compound pedigree,member
R4820 T16004 T16002 pobj member,in
R4821 T16005 T16004 nummod 23,member
R4822 T16006 T16004 punct ", ",member
R4823 T16007 T16004 prep with,member
R4824 T16008 T16009 amod unknown,status
R4825 T16009 T16007 pobj status,with
R4826 T16010 T16011 compound disease,affection
R4827 T16011 T16009 compound affection,status
R4828 T16012 T16002 punct ;,in
R4829 T16013 T16002 conj in,in
R4830 T16014 T16015 det a,control
R4831 T16015 T16013 pobj control,in
R4832 T16016 T16017 advmod neurologically,normal
R4833 T16017 T16015 amod normal,control
R4834 T16018 T16019 punct (,C
R4835 T16019 T16015 parataxis C,control
R4836 T16020 T16019 punct ),C
R4837 T16021 T16013 punct ;,in
R4838 T16022 T16013 cc and,in
R4839 T16023 T16013 conj in,in
R4840 T16024 T16025 det a,control
R4841 T16025 T16023 pobj control,in
R4842 T16026 T16027 det no,template
R4843 T16027 T16025 compound template,control
R4844 T16028 T16029 punct (,NC
R4845 T16029 T16025 parataxis NC,control
R4846 T16030 T16029 punct ),NC
R4847 T16031 T15980 punct .,Gel
R4848 T16245 T16246 compound Western,Blot
R4849 T16246 T16247 compound Blot,Analysis
R4850 T16248 T16247 prep of,Analysis
R4851 T16249 T16250 compound ITPR1,Levels
R4852 T16250 T16248 pobj Levels,of
R4853 T16251 T16250 compound Protein,Levels
R4854 T16252 T16247 prep in,Analysis
R4855 T16253 T16254 nmod EBV,Lymphoblasts
R4856 T16254 T16252 pobj Lymphoblasts,in
R4857 T16255 T16254 amod Immortalized,Lymphoblasts
R4858 T16256 T16254 prep from,Lymphoblasts
R4859 T16257 T16258 compound AUS1,Members
R4860 T16258 T16256 pobj Members,from
R4861 T16259 T16258 compound Family,Members
R4862 T16261 T16262 compound Western,blot
R4863 T16263 T16262 acl performed,blot
R4864 T16264 T16265 aux to,examine
R4865 T16265 T16263 advcl examine,performed
R4866 T16266 T16267 compound ITPR1,levels
R4867 T16267 T16265 dobj levels,examine
R4868 T16268 T16267 prep in,levels
R4869 T16269 T16270 nmod EBV,lymphocytes
R4870 T16270 T16268 pobj lymphocytes,in
R4871 T16271 T16270 amod immortalized,lymphocytes
R4872 T16272 T16270 prep from,lymphocytes
R4873 T16273 T16274 npadvmod AUS1,affected
R4874 T16274 T16275 amod affected,members
R4875 T16275 T16272 pobj members,from
R4876 T16276 T16275 compound family,members
R4877 T16277 T16275 acl carrying,members
R4878 T16278 T16279 det the,deletion
R4879 T16279 T16277 dobj deletion,carrying
R4880 T16280 T16279 compound ITPR1,deletion
R4881 T16281 T16272 cc and,from
R4882 T16282 T16272 conj from,from
R4883 T16283 T16284 det an,member
R4884 T16284 T16282 pobj member,from
R4885 T16285 T16284 compound AUS1,member
R4886 T16286 T16284 compound family,member
R4887 T16287 T16284 prep of,member
R4888 T16288 T16289 amod unknown,status
R4889 T16289 T16287 pobj status,of
R4890 T16290 T16289 compound disease,status
R4891 T16291 T16292 dep who,carry
R4892 T16292 T16284 relcl carry,member
R4893 T16293 T16292 aux does,carry
R4894 T16294 T16292 neg not,carry
R4895 T16295 T16296 det the,deletion
R4896 T16296 T16292 dobj deletion,carry
R4897 T16297 T16262 punct .,blot
R4898 T16299 T16300 advmod Notably,show
R4899 T16301 T16302 det the,samples
R4900 T16302 T16300 nsubj samples,show
R4901 T16303 T16302 prep from,samples
R4902 T16304 T16303 pobj patients,from
R4903 T16305 T16304 prep with,patients
R4904 T16306 T16307 compound ITPR1,deletion
R4905 T16307 T16305 pobj deletion,with
R4906 T16308 T16309 det a,decrease
R4907 T16309 T16300 dobj decrease,show
R4908 T16310 T16309 amod dramatic,decrease
R4909 T16311 T16309 prep in,decrease
R4910 T16312 T16313 compound ITPR1,levels
R4911 T16313 T16311 pobj levels,in
R4912 T16314 T16300 punct .,show
R4913 T16316 T16317 aux To,demonstrate
R4914 T16317 T16318 advcl demonstrate,diluted
R4915 T16319 T16320 amod equal,loading
R4916 T16320 T16317 dobj loading,demonstrate
R4917 T16321 T16318 punct ", ",diluted
R4918 T16322 T16323 det these,samples
R4919 T16323 T16318 nsubjpass samples,diluted
R4920 T16324 T16318 auxpass were,diluted
R4921 T16325 T16318 npadvmod one,diluted
R4922 T16326 T16325 prep in,one
R4923 T16327 T16326 pobj five,in
R4924 T16328 T16318 punct ", ",diluted
R4925 T16329 T16318 cc and,diluted
R4926 T16330 T16331 det the,blot
R4927 T16331 T16333 nsubjpass blot,repeated
R4928 T16332 T16331 compound Western,blot
R4929 T16333 T16318 conj repeated,diluted
R4930 T16334 T16333 auxpass was,repeated
R4931 T16335 T16333 advcl using,repeated
R4932 T16336 T16337 det an,antibody
R4933 T16337 T16335 dobj antibody,using
R4934 T16338 T16337 prep against,antibody
R4935 T16339 T16338 pobj ACTB,against
R4936 T16340 T16318 punct .,diluted

2_test

Id Subject Object Predicate Lexical cue
17590087-8987786-85657843 1542-1543 8987786 denotes 1
17590087-8987786-85657844 2320-2321 8987786 denotes 1
17590087-8538767-85657845 2505-2506 8538767 denotes 4
17590087-8987786-85657846 2804-2805 8987786 denotes 1
17590087-8538767-85657847 2841-2842 8538767 denotes 4
17590087-11723290-85657848 4252-4253 11723290 denotes 5
17590087-12828938-85657849 4323-4324 12828938 denotes 2
17590087-12828938-85657850 4753-4754 12828938 denotes 2
17590087-17116639-85657851 7570-7572 17116639 denotes 15
17590087-12757706-85657852 11957-11958 12757706 denotes 6
17590087-15146462-85657853 11959-11960 15146462 denotes 7
17590087-8988170-85657854 12420-12421 8988170 denotes 8
17590087-10426189-85657855 13726-13727 10426189 denotes 9
17590087-8538767-85657856 13789-13790 8538767 denotes 4
17590087-17030759-85657857 15874-15876 17030759 denotes 10
17590087-15623688-85657858 15877-15879 15623688 denotes 11
T11516 1542-1543 8987786 denotes 1
T73331 2320-2321 8987786 denotes 1
T33757 2505-2506 8538767 denotes 4
T76186 2804-2805 8987786 denotes 1
T38217 2841-2842 8538767 denotes 4
T90169 4252-4253 11723290 denotes 5
T64459 4323-4324 12828938 denotes 2
T42593 4753-4754 12828938 denotes 2
T87082 7570-7572 17116639 denotes 15
T64473 11957-11958 12757706 denotes 6
T55562 11959-11960 15146462 denotes 7
T45916 12420-12421 8988170 denotes 8
T70545 13726-13727 10426189 denotes 9
T38629 13789-13790 8538767 denotes 4
T92442 15874-15876 17030759 denotes 10
T77502 15877-15879 15623688 denotes 11