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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-148 Sentence denotes POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
TextSentencer_T2 149-236 Sentence denotes O-Mannosylation represents an evolutionarily conserved, essential protein modification.
TextSentencer_T3 237-385 Sentence denotes In mammals the protein O-mannosyltransferases POMT1 and POMT2 act as a heteromeric complex to initiate O-mannosylation in the endoplasmic reticulum.
TextSentencer_T4 386-523 Sentence denotes Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan.
TextSentencer_T5 524-654 Sentence denotes The most severe of these autosomal recessive conditions is Walker-Warburg syndrome (WWS) with severe brain and ocular involvement.
TextSentencer_T6 655-783 Sentence denotes We previously showed in the murine model that Pomt1 is expressed in WWS-related tissues both during embryogenesis and in adults.
TextSentencer_T7 784-943 Sentence denotes Whereas there is only a single Pomt1 transcript in adult mice, we demonstrated that there are two Pomt2 transcripts, somatic sPomt2 and testis-specific tPomt2.
TextSentencer_T8 944-1134 Sentence denotes In this study we demonstrate that sPomt2, but not tPomt2, is prominently expressed in mouse embryos in the tissues that are most severely affected in WWS (developing muscle, eye, and brain).
TextSentencer_T9 1135-1337 Sentence denotes Correlation of POMT transcripts and protein isoforms with POMT mannosyltransferase enzyme activity demonstrates that sPOMT2-POMT1 complexes catalyze mannosyltransfer in adult somatic tissues and testis.
TextSentencer_T10 1338-1454 Sentence denotes It is suggested that the gonadal defects described in some WWS cases are associated with defects in O-mannosylation.
TextSentencer_T11 1455-1644 Sentence denotes Our data further show that whereas sPOMT2 is widely expressed, tPOMT2 is restricted to the acrosome of male germ cells and is not involved in the biosynthesis of O-mannosyl glycans in vivo.
TextSentencer_T12 1645-1778 Sentence denotes We prove that tPOMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from sPOMT2.
T1 0-148 Sentence denotes POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
T2 149-236 Sentence denotes O-Mannosylation represents an evolutionarily conserved, essential protein modification.
T3 237-385 Sentence denotes In mammals the protein O-mannosyltransferases POMT1 and POMT2 act as a heteromeric complex to initiate O-mannosylation in the endoplasmic reticulum.
T4 386-523 Sentence denotes Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan.
T5 524-654 Sentence denotes The most severe of these autosomal recessive conditions is Walker-Warburg syndrome (WWS) with severe brain and ocular involvement.
T6 655-783 Sentence denotes We previously showed in the murine model that Pomt1 is expressed in WWS-related tissues both during embryogenesis and in adults.
T7 784-943 Sentence denotes Whereas there is only a single Pomt1 transcript in adult mice, we demonstrated that there are two Pomt2 transcripts, somatic sPomt2 and testis-specific tPomt2.
T8 944-1134 Sentence denotes In this study we demonstrate that sPomt2, but not tPomt2, is prominently expressed in mouse embryos in the tissues that are most severely affected in WWS (developing muscle, eye, and brain).
T9 1135-1337 Sentence denotes Correlation of POMT transcripts and protein isoforms with POMT mannosyltransferase enzyme activity demonstrates that sPOMT2-POMT1 complexes catalyze mannosyltransfer in adult somatic tissues and testis.
T10 1338-1454 Sentence denotes It is suggested that the gonadal defects described in some WWS cases are associated with defects in O-mannosylation.
T11 1455-1644 Sentence denotes Our data further show that whereas sPOMT2 is widely expressed, tPOMT2 is restricted to the acrosome of male germ cells and is not involved in the biosynthesis of O-mannosyl glycans in vivo.
T12 1645-1778 Sentence denotes We prove that tPOMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from sPOMT2.
T1 0-148 Sentence denotes POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
T2 149-236 Sentence denotes O-Mannosylation represents an evolutionarily conserved, essential protein modification.
T3 237-385 Sentence denotes In mammals the protein O-mannosyltransferases POMT1 and POMT2 act as a heteromeric complex to initiate O-mannosylation in the endoplasmic reticulum.
T4 386-523 Sentence denotes Mutations in human POMT1 and POMT2 cause a group of congenital muscular dystrophies due to reduced O-glycosylation of alpha-dystroglycan.
T5 524-654 Sentence denotes The most severe of these autosomal recessive conditions is Walker-Warburg syndrome (WWS) with severe brain and ocular involvement.
T6 655-783 Sentence denotes We previously showed in the murine model that Pomt1 is expressed in WWS-related tissues both during embryogenesis and in adults.
T7 784-943 Sentence denotes Whereas there is only a single Pomt1 transcript in adult mice, we demonstrated that there are two Pomt2 transcripts, somatic sPomt2 and testis-specific tPomt2.
T8 944-1134 Sentence denotes In this study we demonstrate that sPomt2, but not tPomt2, is prominently expressed in mouse embryos in the tissues that are most severely affected in WWS (developing muscle, eye, and brain).
T9 1135-1337 Sentence denotes Correlation of POMT transcripts and protein isoforms with POMT mannosyltransferase enzyme activity demonstrates that sPOMT2-POMT1 complexes catalyze mannosyltransfer in adult somatic tissues and testis.
T10 1338-1454 Sentence denotes It is suggested that the gonadal defects described in some WWS cases are associated with defects in O-mannosylation.
T11 1455-1644 Sentence denotes Our data further show that whereas sPOMT2 is widely expressed, tPOMT2 is restricted to the acrosome of male germ cells and is not involved in the biosynthesis of O-mannosyl glycans in vivo.
T12 1645-1778 Sentence denotes We prove that tPOMT2 is highly conserved among mammals, including humans, suggesting a crucial function that is distinct from sPOMT2.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 72-78 http://purl.obolibrary.org/obo/MAT_0000132 denotes testis
T2 625-630 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T3 920-926 http://purl.obolibrary.org/obo/MAT_0000132 denotes testis
T4 1036-1043 http://purl.obolibrary.org/obo/MAT_0000226 denotes embryos
T5 1110-1116 http://purl.obolibrary.org/obo/MAT_0000025 denotes muscle
T6 1118-1121 http://purl.obolibrary.org/obo/MAT_0000140 denotes eye
T7 1127-1132 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T8 1330-1336 http://purl.obolibrary.org/obo/MAT_0000132 denotes testis
T9 1558-1562 http://purl.obolibrary.org/obo/MAT_0000029 denotes male
T10 1563-1573 http://purl.obolibrary.org/obo/MAT_0000334 denotes germ cells

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-5 gene:29954 denotes POMT2
T1 23-46 disease:C0265221 denotes Walker-Warburg syndrome
T2 504-522 gene:1605 denotes alpha-dystroglycan
T3 449-469 disease:C0026850 denotes muscular dystrophies
T4 415-420 gene:29954 denotes POMT2
T5 449-469 disease:C0026850 denotes muscular dystrophies
T6 405-410 gene:10585 denotes POMT1
T7 449-469 disease:C0026850 denotes muscular dystrophies
T8 701-706 gene:10585 denotes Pomt1
T9 723-726 disease:C0265221 denotes WWS
R1 T0 T1 associated_with POMT2,Walker-Warburg syndrome
R2 T2 T3 associated_with alpha-dystroglycan,muscular dystrophies
R3 T4 T5 associated_with POMT2,muscular dystrophies
R4 T6 T7 associated_with POMT1,muscular dystrophies
R5 T8 T9 associated_with Pomt1,WWS

GlycoBiology-GDGDB

Id Subject Object Predicate Lexical cue
_T1 0-5 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes POMT2
_T2 283-288 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes POMT1
_T3 293-298 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes POMT2
_T4 405-410 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes POMT1
_T5 415-420 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes POMT2
_T6 701-706 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes Pomt1
_T7 815-820 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes Pomt1
_T8 882-887 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes Pomt2
_T9 1259-1264 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00376 denotes POMT1
_T10 438-469 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00381 denotes congenital muscular dystrophies
_T11 438-469 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00383 denotes congenital muscular dystrophies

ICD10

Id Subject Object Predicate Lexical cue
T1 449-469 http://purl.bioontology.org/ontology/ICD10/G71.0 denotes muscular dystrophies

uniprot-human

Id Subject Object Predicate Lexical cue
T1 0-5 http://www.uniprot.org/uniprot/Q9UKY4 denotes POMT2
T2 293-298 http://www.uniprot.org/uniprot/Q9UKY4 denotes POMT2
T3 415-420 http://www.uniprot.org/uniprot/Q9UKY4 denotes POMT2
T4 283-288 http://www.uniprot.org/uniprot/Q9NX32 denotes POMT1
T5 405-410 http://www.uniprot.org/uniprot/Q9NX32 denotes POMT1
T6 1259-1264 http://www.uniprot.org/uniprot/Q9NX32 denotes POMT1
T7 510-522 http://www.uniprot.org/uniprot/Q14118 denotes dystroglycan

uniprot-mouse

Id Subject Object Predicate Lexical cue
T1 510-522 http://www.uniprot.org/uniprot/Q62165 denotes dystroglycan
T2 701-706 http://www.uniprot.org/uniprot/Q8R2R1 denotes Pomt1
T3 815-820 http://www.uniprot.org/uniprot/Q8R2R1 denotes Pomt1
T4 882-887 http://www.uniprot.org/uniprot/Q8BGQ4 denotes Pomt2

GlycoBiology-NCBITAXON

Id Subject Object Predicate Lexical cue
T1 240-247 http://purl.bioontology.org/ontology/STY/T015 denotes mammals
T2 308-319 http://purl.bioontology.org/ontology/NCBITAXON/133265 denotes heteromeric
T3 429-434 http://purl.bioontology.org/ontology/STY/T096 denotes group
T4 549-558 http://purl.bioontology.org/ontology/NCBITAXON/150701 denotes autosomal
T5 727-734 http://purl.bioontology.org/ontology/NCBITAXON/353209 denotes related
T6 735-742 http://purl.bioontology.org/ontology/STY/T024 denotes tissues
T7 1051-1058 http://purl.bioontology.org/ontology/STY/T024 denotes tissues
T8 1318-1325 http://purl.bioontology.org/ontology/STY/T024 denotes tissues
T9 1568-1573 http://purl.bioontology.org/ontology/STY/T025 denotes cells
T10 1692-1699 http://purl.bioontology.org/ontology/STY/T015 denotes mammals

GO-BP

Id Subject Object Predicate Lexical cue
T1 111-139 http://purl.obolibrary.org/obo/GO_0000030 denotes mannosyltransferase activity
T2 151-164 http://purl.obolibrary.org/obo/GO_0097502 denotes Mannosylation
T3 342-355 http://purl.obolibrary.org/obo/GO_0097502 denotes mannosylation
T4 1440-1453 http://purl.obolibrary.org/obo/GO_0097502 denotes mannosylation
T5 1619-1627 http://purl.obolibrary.org/obo/GO_0097502 denotes mannosyl
T6 215-235 http://purl.obolibrary.org/obo/GO_0036211 denotes protein modification
T7 252-282 http://purl.obolibrary.org/obo/GO_0004169 denotes protein O-mannosyltransferases
T8 487-500 http://purl.obolibrary.org/obo/GO_0070085 denotes glycosylation
T9 755-768 http://purl.obolibrary.org/obo/GO_0009790 denotes embryogenesis
T10 755-768 http://purl.obolibrary.org/obo/GO_0009792 denotes embryogenesis
T11 755-768 http://purl.obolibrary.org/obo/GO_0009793 denotes embryogenesis
T12 821-831 http://purl.obolibrary.org/obo/GO_0006351 denotes transcript
T13 888-899 http://purl.obolibrary.org/obo/GO_0006351 denotes transcripts
T14 1155-1166 http://purl.obolibrary.org/obo/GO_0006351 denotes transcripts
T15 1099-1109 http://purl.obolibrary.org/obo/GO_0032502 denotes developing
T16 1218-1233 http://purl.obolibrary.org/obo/GO_0003824 denotes enzyme activity
T17 1601-1613 http://purl.obolibrary.org/obo/GO_0009058 denotes biosynthesis

GO-CC

Id Subject Object Predicate Lexical cue
T1 363-384 http://purl.obolibrary.org/obo/GO_0005783 denotes endoplasmic reticulum
T2 549-558 http://purl.obolibrary.org/obo/GO_0030849 denotes autosomal
T3 1546-1554 http://purl.obolibrary.org/obo/GO_0001669 denotes acrosome
T4 1568-1573 http://purl.obolibrary.org/obo/GO_0005623 denotes cells

UBERON-AE

Id Subject Object Predicate Lexical cue
T1 72-78 http://purl.obolibrary.org/obo/UBERON_0000473 denotes testis
T2 920-926 http://purl.obolibrary.org/obo/UBERON_0000473 denotes testis
T3 1330-1336 http://purl.obolibrary.org/obo/UBERON_0000473 denotes testis
T4 625-630 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
T5 1127-1132 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
T6 735-742 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
T7 1051-1058 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
T8 1318-1325 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
T9 1036-1043 http://purl.obolibrary.org/obo/UBERON_0000922 denotes embryos
T10 1118-1121 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye
T11 1363-1370 http://purl.obolibrary.org/obo/UBERON_0000991 denotes gonadal

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18490429-0#0#5#gene29954 0-5 gene29954 denotes POMT2
18490429-0#23#46#diseaseC0265221 23-46 diseaseC0265221 denotes Walker-Warburg syndrome
18490429-3#29#34#gene29954 415-420 gene29954 denotes POMT2
18490429-3#118#136#gene1605 504-522 gene1605 denotes alpha-dystroglycan
18490429-3#63#83#diseaseC0026850 449-469 diseaseC0026850 denotes muscular dystrophies
18490429-5#46#51#gene10585 701-706 gene10585 denotes Pomt1
18490429-5#68#71#diseaseC0265221 723-726 diseaseC0265221 denotes WWS
0#5#gene2995423#46#diseaseC0265221 18490429-0#0#5#gene29954 18490429-0#23#46#diseaseC0265221 associated_with POMT2,Walker-Warburg syndrome
29#34#gene2995463#83#diseaseC0026850 18490429-3#29#34#gene29954 18490429-3#63#83#diseaseC0026850 associated_with POMT2,muscular dystrophies
118#136#gene160563#83#diseaseC0026850 18490429-3#118#136#gene1605 18490429-3#63#83#diseaseC0026850 associated_with alpha-dystroglycan,muscular dystrophies
46#51#gene1058568#71#diseaseC0265221 18490429-5#46#51#gene10585 18490429-5#68#71#diseaseC0265221 associated_with Pomt1,WWS

GlycoBiology-MAT

Id Subject Object Predicate Lexical cue
T1 72-78 http://purl.obolibrary.org/obo/MAT_0000132 denotes testis
T2 625-630 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T3 920-926 http://purl.obolibrary.org/obo/MAT_0000132 denotes testis
T4 1036-1043 http://purl.obolibrary.org/obo/MAT_0000226 denotes embryos
T5 1110-1116 http://purl.obolibrary.org/obo/MAT_0000025 denotes muscle
T6 1118-1121 http://purl.obolibrary.org/obo/MAT_0000140 denotes eye
T7 1127-1132 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T8 1330-1336 http://purl.obolibrary.org/obo/MAT_0000132 denotes testis
T9 1558-1562 http://purl.obolibrary.org/obo/MAT_0000029 denotes male
T10 1563-1573 http://purl.obolibrary.org/obo/MAT_0000334 denotes germ cells

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 625-630 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 1127-1132 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T3 735-742 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
PD-UBERON-AE-B_T4 1051-1058 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
PD-UBERON-AE-B_T5 1318-1325 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
PD-UBERON-AE-B_T6 72-78 http://purl.obolibrary.org/obo/UBERON_0000473 denotes testis
PD-UBERON-AE-B_T7 920-926 http://purl.obolibrary.org/obo/UBERON_0000473 denotes testis
PD-UBERON-AE-B_T8 1330-1336 http://purl.obolibrary.org/obo/UBERON_0000473 denotes testis
PD-UBERON-AE-B_T9 1036-1043 http://purl.obolibrary.org/obo/UBERON_0000922 denotes embryos
PD-UBERON-AE-B_T10 1118-1121 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye
PD-UBERON-AE-B_T11 1363-1370 http://purl.obolibrary.org/obo/UBERON_0000991 denotes gonadal

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 72-78 Body_part denotes testis http://purl.obolibrary.org/obo/MAT_0000132
T2 625-630 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098
T3 920-926 Body_part denotes testis http://purl.obolibrary.org/obo/MAT_0000132
T4 1036-1043 Body_part denotes embryos http://purl.obolibrary.org/obo/MAT_0000226
T5 1110-1116 Body_part denotes muscle http://purl.obolibrary.org/obo/MAT_0000025
T6 1118-1121 Body_part denotes eye http://purl.obolibrary.org/obo/MAT_0000140
T7 1127-1132 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098
T8 1330-1336 Body_part denotes testis http://purl.obolibrary.org/obo/MAT_0000132
T9 1558-1562 Body_part denotes male http://purl.obolibrary.org/obo/MAT_0000029
T10 1563-1573 Body_part denotes germ cells http://purl.obolibrary.org/obo/MAT_0000334

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 438-469 Phenotype denotes congenital muscular dystrophies HP:0003560

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 23-46 Disease denotes Walker-Warburg syndrome http://purl.obolibrary.org/obo/MONDO_0019523
T2 438-469 Disease denotes congenital muscular dystrophies http://purl.obolibrary.org/obo/MONDO_0019950
T3 583-606 Disease denotes Walker-Warburg syndrome http://purl.obolibrary.org/obo/MONDO_0019523
T4 608-611 Disease denotes WWS http://purl.obolibrary.org/obo/MONDO_0019523
T5 723-726 Disease denotes WWS http://purl.obolibrary.org/obo/MONDO_0019523
T6 1094-1097 Disease denotes WWS http://purl.obolibrary.org/obo/MONDO_0019523
T7 1397-1400 Disease denotes WWS http://purl.obolibrary.org/obo/MONDO_0019523

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 399-404 OrganismTaxon denotes human 9606
T2 841-845 OrganismTaxon denotes mice 10088
T3 1030-1035 OrganismTaxon denotes mouse 10088|10090

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 72-78 Body_part denotes testis http://purl.obolibrary.org/obo/UBERON_0000473
T2 375-384 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T3 625-630 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T5 920-926 Body_part denotes testis http://purl.obolibrary.org/obo/UBERON_0000473
T6 1110-1116 Body_part denotes muscle http://purl.obolibrary.org/obo/UBERON_0001630|http://purl.obolibrary.org/obo/UBERON_0005090
T8 1118-1121 Body_part denotes eye http://purl.obolibrary.org/obo/UBERON_0000019|http://purl.obolibrary.org/obo/UBERON_0000970|http://purl.obolibrary.org/obo/UBERON_0010230
T11 1127-1132 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T13 1330-1336 Body_part denotes testis http://purl.obolibrary.org/obo/UBERON_0000473
T14 1546-1554 Body_part denotes acrosome http://purl.obolibrary.org/obo/GO_0001669
T15 1558-1573 Body_part denotes male germ cells http://purl.obolibrary.org/obo/CL_0000015

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 1558-1573 Cell denotes male germ cells http://purl.obolibrary.org/obo/CL:0000015