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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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.