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PubMed:8910493 JSONTXT

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CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 840-849 Cell denotes leukocyte http://purl.obolibrary.org/obo/CL:0000738
T2 2349-2360 Cell denotes osteoblasts http://purl.obolibrary.org/obo/CL:0000062

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-152 Sentence denotes Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
TextSentencer_T2 153-292 Sentence denotes We have identified a novel multiexon genomic deletion in one COL1A1 collagen allele that results in three alternative forms of mutant mRNA.
TextSentencer_T3 293-415 Sentence denotes This mutation occurs in a 9-year-old girl and her father, both affected with severe type III osteogenesis imperfecta (OI).
TextSentencer_T4 416-547 Sentence denotes We previously reported detection of a mismatch in their alpha1(I) amino acids 558-861 region by RNA/RNA hybrid analysis (Grange, D.
TextSentencer_T5 548-565 Sentence denotes K., Gottesman, G.
TextSentencer_T6 566-579 Sentence denotes S., Lewis, M.
TextSentencer_T7 580-598 Sentence denotes B., and Marini, J.
TextSentencer_T8 599-627 Sentence denotes C. (1990) Nucleic Acids Res.
TextSentencer_T9 628-643 Sentence denotes 18, 4227-4236).
TextSentencer_T10 644-763 Sentence denotes Single Strand Conformational Polymorphism further localized the mRNA mutation to the amino acids 579-679 coding region.
TextSentencer_T11 764-963 Sentence denotes At the gene level, polymerase chain reaction (PCR) amplification of patient leukocyte DNA from the exon 33-38 region yielded the normal 1004-base pair (bp) fragment and an additional 442-bp fragment.
TextSentencer_T12 964-1148 Sentence denotes Sequencing of the shorter genomic PCR product confirmed the presence of a 562-bp deletion, extending from the last 3 nucleotides (nt) of exon 34 to 156 nt from the 3'-end of intron 36.
TextSentencer_T13 1149-1267 Sentence denotes The genomic deletion was also detected in the clinically normal grandmother, who was confirmed to be a mosaic carrier.
TextSentencer_T14 1268-1402 Sentence denotes PCR amplification and RNase protection experiments were used to investigate the mRNA structure and occurrence of alternative splicing.
TextSentencer_T15 1403-1505 Sentence denotes One form of the mutant cDNA has a deletion with end points that are identical to the genomic deletion.
TextSentencer_T16 1506-1659 Sentence denotes This results in a combination deletion/insertion, with a deletion of amino acids 603-639 followed by an insertion of 156 nt from the 3'-end of intron 36.
TextSentencer_T17 1660-1714 Sentence denotes In addition, we found two alternatively spliced forms.
TextSentencer_T18 1715-1786 Sentence denotes One form uses a cryptic donor site in exon 34 and the exon 37 acceptor.
TextSentencer_T19 1787-1861 Sentence denotes The second form uses the normal exon 32 splice donor and exon 37 acceptor.
TextSentencer_T20 1862-1937 Sentence denotes Use of the cryptic donor results in a coding sequence that is out-of-frame.
TextSentencer_T21 1938-2051 Sentence denotes Both the retained intron form and the use of the exon 32 donor site result in coding sequences that are in-frame.
TextSentencer_T22 2052-2186 Sentence denotes This is the first report of a collagen defect in OI with alternative splicing generating both in-frame and out-of-frame forms of mRNA.
TextSentencer_T23 2187-2315 Sentence denotes Although the in-frame forms constitute more than 60% of the mRNA from the mutant allele, no mutant protein chain was identified.
TextSentencer_T24 2316-2465 Sentence denotes Collagen produced by cultured OI osteoblasts showed a significant increase in the relative amount of type III collagen but no mutant alpha1(I) chain.
T1 0-152 Sentence denotes Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
T2 153-292 Sentence denotes We have identified a novel multiexon genomic deletion in one COL1A1 collagen allele that results in three alternative forms of mutant mRNA.
T3 293-415 Sentence denotes This mutation occurs in a 9-year-old girl and her father, both affected with severe type III osteogenesis imperfecta (OI).
T4 416-547 Sentence denotes We previously reported detection of a mismatch in their alpha1(I) amino acids 558-861 region by RNA/RNA hybrid analysis (Grange, D.
T5 548-565 Sentence denotes K., Gottesman, G.
T6 566-579 Sentence denotes S., Lewis, M.
T7 580-598 Sentence denotes B., and Marini, J.
T8 599-627 Sentence denotes C. (1990) Nucleic Acids Res.
T9 628-643 Sentence denotes 18, 4227-4236).
T10 644-763 Sentence denotes Single Strand Conformational Polymorphism further localized the mRNA mutation to the amino acids 579-679 coding region.
T11 764-963 Sentence denotes At the gene level, polymerase chain reaction (PCR) amplification of patient leukocyte DNA from the exon 33-38 region yielded the normal 1004-base pair (bp) fragment and an additional 442-bp fragment.
T12 964-1148 Sentence denotes Sequencing of the shorter genomic PCR product confirmed the presence of a 562-bp deletion, extending from the last 3 nucleotides (nt) of exon 34 to 156 nt from the 3'-end of intron 36.
T13 1149-1267 Sentence denotes The genomic deletion was also detected in the clinically normal grandmother, who was confirmed to be a mosaic carrier.
T14 1268-1402 Sentence denotes PCR amplification and RNase protection experiments were used to investigate the mRNA structure and occurrence of alternative splicing.
T15 1403-1505 Sentence denotes One form of the mutant cDNA has a deletion with end points that are identical to the genomic deletion.
T16 1506-1659 Sentence denotes This results in a combination deletion/insertion, with a deletion of amino acids 603-639 followed by an insertion of 156 nt from the 3'-end of intron 36.
T17 1660-1714 Sentence denotes In addition, we found two alternatively spliced forms.
T18 1715-1786 Sentence denotes One form uses a cryptic donor site in exon 34 and the exon 37 acceptor.
T19 1787-1861 Sentence denotes The second form uses the normal exon 32 splice donor and exon 37 acceptor.
T20 1862-1937 Sentence denotes Use of the cryptic donor results in a coding sequence that is out-of-frame.
T21 1938-2051 Sentence denotes Both the retained intron form and the use of the exon 32 donor site result in coding sequences that are in-frame.
T22 2052-2186 Sentence denotes This is the first report of a collagen defect in OI with alternative splicing generating both in-frame and out-of-frame forms of mRNA.
T23 2187-2315 Sentence denotes Although the in-frame forms constitute more than 60% of the mRNA from the mutant allele, no mutant protein chain was identified.
T24 2316-2465 Sentence denotes Collagen produced by cultured OI osteoblasts showed a significant increase in the relative amount of type III collagen but no mutant alpha1(I) chain.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 24-30 gene:1277 denotes COL1A1
T1 128-151 disease:C0029434 denotes osteogenesis imperfecta
R1 T0 T1 associated_with COL1A1,osteogenesis imperfecta

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8910493-0#24#30#gene1277 24-30 gene1277 denotes COL1A1
8910493-0#128#151#diseaseC0029434 128-151 diseaseC0029434 denotes osteogenesis imperfecta
24#30#gene1277128#151#diseaseC0029434 8910493-0#24#30#gene1277 8910493-0#128#151#diseaseC0029434 associated_with COL1A1,osteogenesis imperfecta

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 386-409 ORDO:666 denotes osteogenesis imperfecta

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 121-151 Disease denotes lethal osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0008147
T2 386-409 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T3 411-413 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T4 2101-2103 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T5 2346-2348 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 832-839 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 840-849 Body_part denotes leukocyte http://purl.obolibrary.org/obo/CL_0000738
T2 2349-2360 Body_part denotes osteoblasts http://purl.obolibrary.org/obo/CL_0000062