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PubMed:17033974 JSONTXT 19 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-101 Sentence denotes Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
T1 0-101 Sentence denotes Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
TextSentencer_T2 102-233 Sentence denotes Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses.
T2 102-233 Sentence denotes Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses.
TextSentencer_T3 234-445 Sentence denotes We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones.
T3 234-445 Sentence denotes We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones.
TextSentencer_T4 446-544 Sentence denotes The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type.
T4 446-544 Sentence denotes The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type.
TextSentencer_T5 545-641 Sentence denotes Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease.
T5 545-641 Sentence denotes Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease.
TextSentencer_T6 642-848 Sentence denotes We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C-->A) in CACNA2D4.
T6 642-848 Sentence denotes We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C-->A) in CACNA2D4.
TextSentencer_T7 849-961 Sentence denotes The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame.
T7 849-961 Sentence denotes The mutation introduces a premature stop codon that truncates one-third of the corresponding open reading frame.
TextSentencer_T8 962-1028 Sentence denotes Both patients share symptoms of slowly progressing cone dystrophy.
T8 962-1028 Sentence denotes Both patients share symptoms of slowly progressing cone dystrophy.
TextSentencer_T9 1029-1190 Sentence denotes These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy.
T9 1029-1190 Sentence denotes These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy.