LitCoin-sentences  

PubMed:17549393 JSONTXT 27 Projects

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Id Subject Object Predicate Lexical cue
T1 0-85 Sentence denotes A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.
T2 86-239 Sentence denotes Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, which accounts for approximately 2% of all cleft lip and palate cases.
T3 240-346 Sentence denotes It is characterised by variable association of lower lip pits, cleft lip and cleft palate, and hypodontia.
T4 347-444 Sentence denotes VWS arises as the result of mutations in the gene encoding interferon regulatory factor 6 (IRF6).
T5 445-553 Sentence denotes The disorder is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity.
T6 554-717 Sentence denotes Very recently, mutations of the IRF6 gene in exons 2-9 have been found in VWS patients, suggesting that this gene plays an important role in orofacial development.
T7 718-781 Sentence denotes We report a novel mutation of the IRF6 gene in a German family.
T8 782-847 Sentence denotes Five out of the 12 persons affected were able to be investigated.
T9 848-914 Sentence denotes The mutation produced a stop codon within exon 4 of the IRF6 gene.
T10 915-1072 Sentence denotes All 5 patients were heterozygous for a base substitution c.201C>A changing the tyrosine codon at amino acid position 67 into a stop codon (p.Y67X) in exon 4.
T11 1073-1317 Sentence denotes The premature stop codon was responsible for a truncated protein lacking parts of the DNA- binding domain and the complete Smad-interferon regulatory factor-binding domain probably essential for interactions with the Smad transcription factors.