> top > docs > PubMed:10419498 > annotations

PubMed:10419498 JSONTXT

Annnotations TAB JSON ListView MergeView

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 240-258 HP_0000006 denotes autosomal dominant
T2 277-285 HP_0003198 denotes myopathy
T3 513-521 HP_0003198 denotes myopathy
T4 1998-2006 HP_0003198 denotes myopathy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10419498-1#79#85#gene1293 211-217 gene1293 denotes COL6A3
10419498-1#108#135#diseaseC3899989 240-267 diseaseC3899989 denotes autosomal dominant disorder
10419498-3#82#88#gene1291 559-565 gene1291 denotes COL6A1
10419498-3#28#44#diseaseC1834674 505-521 diseaseC1834674 denotes Bethlem myopathy
79#85#gene1293108#135#diseaseC3899989 10419498-1#79#85#gene1293 10419498-1#108#135#diseaseC3899989 associated_with COL6A3,autosomal dominant disorder
82#88#gene129128#44#diseaseC1834674 10419498-3#82#88#gene1291 10419498-3#28#44#diseaseC1834674 associated_with COL6A1,Bethlem myopathy

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 8-16 HP:0003198 denotes myopathy
AB1 277-285 HP:0003198 denotes myopathy
AB2 513-521 HP:0003198 denotes myopathy
AB3 1998-2006 HP:0003198 denotes myopathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-16 ORDO:610 denotes Bethlem myopathy
AB1 269-285 ORDO:610 denotes Bethlem myopathy
AB2 505-521 ORDO:610 denotes Bethlem myopathy
AB3 1990-2006 ORDO:610 denotes Bethlem myopathy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1348-1353 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-131 Sentence denotes Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.
TextSentencer_T2 132-286 Sentence denotes Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy.
TextSentencer_T3 287-476 Sentence denotes Although three different collagen VI structural mutations have previously been reported, the effect of these mutations on collagen VI assembly, structure, and function is currently unknown.
TextSentencer_T4 477-689 Sentence denotes We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain.
TextSentencer_T5 690-818 Sentence denotes Sequencing of genomic DNA identified a G to A transition in the +1 position of the splice donor site of intron 14 in one allele.
TextSentencer_T6 819-1063 Sentence denotes The mutant alpha1(VI) chains associated intracellularly with alpha2(VI) and alpha3(VI) to form disulfide-bonded monomers, but further assembly into dimers and tetramers was prevented, and molecules containing the mutant chain were not secreted.
TextSentencer_T7 1064-1162 Sentence denotes This triple helical deletion thus resulted in production of half the normal amount of collagen VI.
TextSentencer_T8 1163-1404 Sentence denotes To further explore the biosynthetic consequences of collagen VI triple helical deletions, an alpha3(VI) cDNA expression construct containing a 202-amino acid deletion within the triple helix was produced and stably expressed in SaOS-2 cells.
TextSentencer_T9 1405-1621 Sentence denotes The transfected mutant alpha3(VI) chains associated with endogenous alpha1(VI) and alpha2(VI) to form collagen VI monomers, but dimers and tetramers did not form and the mutant-containing molecules were not secreted.
TextSentencer_T10 1622-1784 Sentence denotes Thus, deletions within the triple helical region of both the alpha1(VI) and alpha3(VI) chains can prevent intracellular dimer and tetramer assembly and secretion.
TextSentencer_T11 1785-2007 Sentence denotes These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy.
T1 0-131 Sentence denotes Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion.
T2 132-286 Sentence denotes Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy.
T3 287-476 Sentence denotes Although three different collagen VI structural mutations have previously been reported, the effect of these mutations on collagen VI assembly, structure, and function is currently unknown.
T4 477-689 Sentence denotes We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain.
T5 690-818 Sentence denotes Sequencing of genomic DNA identified a G to A transition in the +1 position of the splice donor site of intron 14 in one allele.
T6 819-1063 Sentence denotes The mutant alpha1(VI) chains associated intracellularly with alpha2(VI) and alpha3(VI) to form disulfide-bonded monomers, but further assembly into dimers and tetramers was prevented, and molecules containing the mutant chain were not secreted.
T7 1064-1162 Sentence denotes This triple helical deletion thus resulted in production of half the normal amount of collagen VI.
T8 1163-1404 Sentence denotes To further explore the biosynthetic consequences of collagen VI triple helical deletions, an alpha3(VI) cDNA expression construct containing a 202-amino acid deletion within the triple helix was produced and stably expressed in SaOS-2 cells.
T9 1405-1621 Sentence denotes The transfected mutant alpha3(VI) chains associated with endogenous alpha1(VI) and alpha2(VI) to form collagen VI monomers, but dimers and tetramers did not form and the mutant-containing molecules were not secreted.
T10 1622-1784 Sentence denotes Thus, deletions within the triple helical region of both the alpha1(VI) and alpha3(VI) chains can prevent intracellular dimer and tetramer assembly and secretion.
T11 1785-2007 Sentence denotes These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1348-1353 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix

DisGeNET

Id Subject Object Predicate Lexical cue
T0 559-565 gene:1291 denotes COL6A1
T1 505-521 disease:C1834674 denotes Bethlem myopathy
R1 T0 T1 associated_with COL6A1,Bethlem myopathy

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 8-16 Phenotype denotes myopathy HP:0003198
T2 277-285 Phenotype denotes myopathy HP:0003198
T3 513-521 Phenotype denotes myopathy HP:0003198
T4 1998-2006 Phenotype denotes myopathy HP:0003198

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-16 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530
T3 269-285 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530
T5 505-521 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530
T7 1990-2006 Disease denotes Bethlem myopathy http://purl.obolibrary.org/obo/MONDO_0008029|http://purl.obolibrary.org/obo/MONDO_0024530

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 77-90 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622
T2 859-874 Body_part denotes intracellularly http://purl.obolibrary.org/obo/GO_0005622
T3 1348-1353 Body_part denotes helix http://purl.obolibrary.org/obo/UBERON_0002488
T4 1728-1741 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622