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PubMed:22453924 JSONTXT 30 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-131 Sentence denotes Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
T1 0-131 Sentence denotes Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
TextSentencer_T2 132-309 Sentence denotes Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish.
T2 132-309 Sentence denotes Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish.
TextSentencer_T3 310-441 Sentence denotes Amino acid substitutions may disrupt binding capacities of dystrophin and have a major impact on the functionality of this protein.
T3 310-441 Sentence denotes Amino acid substitutions may disrupt binding capacities of dystrophin and have a major impact on the functionality of this protein.
TextSentencer_T4 442-609 Sentence denotes We have identified two brothers (ages 8 and 10 years) with very mild proximal weakness, recurrent abdominal pain, and moderately elevated serum creatine kinase levels.
T4 442-609 Sentence denotes We have identified two brothers (ages 8 and 10 years) with very mild proximal weakness, recurrent abdominal pain, and moderately elevated serum creatine kinase levels.
TextSentencer_T5 610-779 Sentence denotes Gene sequencing revealed a novel mutation in exon 11 of the dystrophin gene (c.1280T>C) leading to a L427P amino acid substitution in repeat 1 of the central rod domain.
T5 610-779 Sentence denotes Gene sequencing revealed a novel mutation in exon 11 of the dystrophin gene (c.1280T>C) leading to a L427P amino acid substitution in repeat 1 of the central rod domain.
TextSentencer_T6 780-975 Sentence denotes Immunostaining of skeletal muscle showed weak staining of the dystrophin region encoded by exons 7 and 8 corresponding to the end of the actin-binding domain 1 and the N-terminal part of hinge 1.
T6 780-975 Sentence denotes Immunostaining of skeletal muscle showed weak staining of the dystrophin region encoded by exons 7 and 8 corresponding to the end of the actin-binding domain 1 and the N-terminal part of hinge 1.
TextSentencer_T7 976-1172 Sentence denotes Spectrofluorescence and circular dichroism analysis of the domain repeat 1-2 (R1-2) revealed partial misfolding of the L427P mutated protein as well as a reduced refolding rate after denaturation.
T7 976-1172 Sentence denotes Spectrofluorescence and circular dichroism analysis of the domain repeat 1-2 (R1-2) revealed partial misfolding of the L427P mutated protein as well as a reduced refolding rate after denaturation.
TextSentencer_T8 1173-1436 Sentence denotes Based on computational homology models of the wild-type and mutated R1-2, a molecular dynamics study showed an alteration in the flexibility of the structure, which also strongly affects the conformational space available in the N-terminal region of the fragment.
T8 1173-1436 Sentence denotes Based on computational homology models of the wild-type and mutated R1-2, a molecular dynamics study showed an alteration in the flexibility of the structure, which also strongly affects the conformational space available in the N-terminal region of the fragment.
TextSentencer_T9 1437-1562 Sentence denotes Our results suggest that this missense mutation hinders the dynamic properties of the entire N-terminal region of dystrophin.
T9 1437-1562 Sentence denotes Our results suggest that this missense mutation hinders the dynamic properties of the entire N-terminal region of dystrophin.