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PubMed:8094076 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-105 Sentence denotes Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI).
TextSentencer_T2 106-169 Sentence denotes Additional evidence for a regional model of OI pathophysiology.
TextSentencer_T3 170-335 Sentence denotes Serine for glycine substitutions in type I collagen have been described in seven cases of lethal type II osteogenesis imperfecta (OI), and six cases of nonlethal OI.
TextSentencer_T4 336-478 Sentence denotes We describe here two cases of moderately severe type IV OI with serine substitutions at alpha 1(I) Gly352 and alpha 2(I) Gly922, respectively.
TextSentencer_T5 479-581 Sentence denotes In both cases, G-->A point mutations were detected by RNase A cleavage of RNA/RNA and RNA/DNA hybrids.
TextSentencer_T6 582-759 Sentence denotes These cases extend the location for serine substitutions producing the moderately severe OI phenotype to the alpha 2(I) chain and the amino-terminal end of the alpha 1(I) chain.
TextSentencer_T7 760-848 Sentence denotes Their location supports a regional model of OI pathophysiology for serine substitutions.
TextSentencer_T8 849-960 Sentence denotes The proband with alpha 2(I) Gly922-->Ser has both normal and overmodified forms of both type I collagen chains.
TextSentencer_T9 961-1026 Sentence denotes The overmodified form has delayed migration of all CNBr peptides.
TextSentencer_T10 1027-1076 Sentence denotes Helix thermal stability is decreased 4 degrees C.
TextSentencer_T11 1077-1154 Sentence denotes The fibroblast collagen protein and RNA of her unaffected parents are normal.
TextSentencer_T12 1155-1235 Sentence denotes However, the father was demonstrated to be a mosaic carrier using leukocyte DNA.
TextSentencer_T13 1236-1443 Sentence denotes The fibroblasts of the proband whose serine substitution is at alpha 1(I) Gly352 synthesize type I procollagen chains with delayed electrophoretic migration; normally migrating forms are difficult to detect.
TextSentencer_T14 1444-1493 Sentence denotes Only alpha 1(I) CB 8 displayed delayed migration.
TextSentencer_T15 1494-1541 Sentence denotes Helix thermal stability is reduced 2 degrees C.
TextSentencer_T16 1542-1574 Sentence denotes Parental genomic DNA was normal.
T1 0-105 Sentence denotes Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI).
T2 106-169 Sentence denotes Additional evidence for a regional model of OI pathophysiology.
T3 170-335 Sentence denotes Serine for glycine substitutions in type I collagen have been described in seven cases of lethal type II osteogenesis imperfecta (OI), and six cases of nonlethal OI.
T4 336-478 Sentence denotes We describe here two cases of moderately severe type IV OI with serine substitutions at alpha 1(I) Gly352 and alpha 2(I) Gly922, respectively.
T5 479-581 Sentence denotes In both cases, G-->A point mutations were detected by RNase A cleavage of RNA/RNA and RNA/DNA hybrids.
T6 582-759 Sentence denotes These cases extend the location for serine substitutions producing the moderately severe OI phenotype to the alpha 2(I) chain and the amino-terminal end of the alpha 1(I) chain.
T7 760-848 Sentence denotes Their location supports a regional model of OI pathophysiology for serine substitutions.
T8 849-960 Sentence denotes The proband with alpha 2(I) Gly922-->Ser has both normal and overmodified forms of both type I collagen chains.
T9 961-1026 Sentence denotes The overmodified form has delayed migration of all CNBr peptides.
T10 1027-1076 Sentence denotes Helix thermal stability is decreased 4 degrees C.
T11 1077-1154 Sentence denotes The fibroblast collagen protein and RNA of her unaffected parents are normal.
T12 1155-1235 Sentence denotes However, the father was demonstrated to be a mosaic carrier using leukocyte DNA.
T13 1236-1443 Sentence denotes The fibroblasts of the proband whose serine substitution is at alpha 1(I) Gly352 synthesize type I procollagen chains with delayed electrophoretic migration; normally migrating forms are difficult to detect.
T14 1444-1493 Sentence denotes Only alpha 1(I) CB 8 displayed delayed migration.
T15 1494-1541 Sentence denotes Helix thermal stability is reduced 2 degrees C.
T16 1542-1574 Sentence denotes Parental genomic DNA was normal.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 424-431 gene:146 denotes alpha 1
T1 384-394 disease:C0268363 denotes type IV OI
R1 T0 T1 associated_with alpha 1,type IV OI

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 76-99 ORDO:666 denotes osteogenesis imperfecta
AB1 275-298 ORDO:666 denotes osteogenesis imperfecta

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1027-1032 http://purl.obolibrary.org/obo/UBERON_0002488 denotes Helix
PD-UBERON-AE-B_T2 1494-1499 http://purl.obolibrary.org/obo/UBERON_0002488 denotes Helix

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 76-99 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T2 101-103 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T3 150-152 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T4 275-298 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T5 300-302 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T6 332-334 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T7 392-394 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T8 671-673 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T9 804-806 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 11-18 OrganismTaxon denotes glycine 3846
T2 181-188 OrganismTaxon denotes glycine 3846

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1027-1032 Body_part denotes Helix http://purl.obolibrary.org/obo/UBERON_0002488
T2 1081-1091 Body_part denotes fibroblast http://purl.obolibrary.org/obo/CL_0000057
T3 1221-1230 Body_part denotes leukocyte http://purl.obolibrary.org/obo/CL_0000738
T4 1240-1251 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T5 1494-1499 Body_part denotes Helix http://purl.obolibrary.org/obo/UBERON_0002488

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 36-42 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 206-212 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T5 937-943 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T7 1081-1091 Cell denotes fibroblast http://purl.obolibrary.org/obo/CL:0000057
T8 1221-1230 Cell denotes leukocyte http://purl.obolibrary.org/obo/CL:0000738
T9 1240-1251 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T10 1328-1334 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138