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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-141 Sentence denotes Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
T1 0-141 Sentence denotes Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
TextSentencer_T2 142-320 Sentence denotes Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI.
T2 142-320 Sentence denotes Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD) sit at opposite ends of a clinical spectrum caused by mutations in the extracellular matrix protein collagen VI.
TextSentencer_T3 321-502 Sentence denotes Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions.
T3 321-502 Sentence denotes Bethlem myopathy is relatively mild, and patients remain ambulant in adulthood while many UCMD patients lose ambulation by their teenage years and require respiratory interventions.
TextSentencer_T4 503-688 Sentence denotes Dominant and recessive mutations are found across the entire clinical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular pathology is limited.
T4 503-688 Sentence denotes Dominant and recessive mutations are found across the entire clinical spectrum; however, recessive Bethlem myopathy is rare, and our understanding of the molecular pathology is limited.
TextSentencer_T5 689-732 Sentence denotes We studied a patient with Bethlem myopathy.
T5 689-732 Sentence denotes We studied a patient with Bethlem myopathy.
TextSentencer_T6 733-805 Sentence denotes Electron microscopy of his muscle biopsy revealed abnormal mitochondria.
T6 733-805 Sentence denotes Electron microscopy of his muscle biopsy revealed abnormal mitochondria.
TextSentencer_T7 806-902 Sentence denotes We identified a homozygous COL6A2 p.D871N amino acid substitution in the C-terminal C2 A-domain.
T7 806-902 Sentence denotes We identified a homozygous COL6A2 p.D871N amino acid substitution in the C-terminal C2 A-domain.
TextSentencer_T8 903-1015 Sentence denotes Mutant α2(VI) chains are unable to associate with α1(VI) and α3(VI) and are degraded by the proteasomal pathway.
T8 903-1015 Sentence denotes Mutant α2(VI) chains are unable to associate with α1(VI) and α3(VI) and are degraded by the proteasomal pathway.
TextSentencer_T9 1016-1095 Sentence denotes Some collagen VI is assembled, albeit more slowly than normal, and is secreted.
T9 1016-1095 Sentence denotes Some collagen VI is assembled, albeit more slowly than normal, and is secreted.
TextSentencer_T10 1096-1219 Sentence denotes These molecules contain the minor α2(VI) C2a splice form that has an alternative C terminus that does include the mutation.
T10 1096-1219 Sentence denotes These molecules contain the minor α2(VI) C2a splice form that has an alternative C terminus that does include the mutation.
TextSentencer_T11 1220-1393 Sentence denotes Collagen VI tetramers containing the α2(VI) C2a chain do not assemble efficiently into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix.
T11 1220-1393 Sentence denotes Collagen VI tetramers containing the α2(VI) C2a chain do not assemble efficiently into microfibrils and there is a severe collagen VI deficiency in the extracellular matrix.
TextSentencer_T12 1394-1584 Sentence denotes We expressed wild-type and mutant α2(VI) C2 domains in mammalian cells and showed that while wild-type C2 domains are efficiently secreted, the mutant p.D871N domain is retained in the cell.
T12 1394-1584 Sentence denotes We expressed wild-type and mutant α2(VI) C2 domains in mammalian cells and showed that while wild-type C2 domains are efficiently secreted, the mutant p.D871N domain is retained in the cell.
TextSentencer_T13 1585-1853 Sentence denotes These studies shed new light on the protein domains important for intracellular and extracellular collagen VI assembly and emphasize the importance of molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and genetic counseling.
T13 1585-1853 Sentence denotes These studies shed new light on the protein domains important for intracellular and extracellular collagen VI assembly and emphasize the importance of molecular investigations for families with collagen VI disorders to ensure accurate diagnosis and genetic counseling.