Title A Connexin 40 Mutation Associated With a Malignant Variant ofProgressive Familial Heart Block Type
نویسندگان
چکیده
Author(s) Makita, Naomasa; Seki, Akiko; Sumitomo, Naokata; Chkourko, Halina; Fukuhara, Shigetomo; Watanabe, Hiroshi; Shimizu, Wataru; Bezzina, Connie R.; Hasdemir, Can; Mugishima, Hideo; Makiyama, Takeru; Baruteau, Alban; Baron, Estelle; Horie, Minoru; Hagiwara, Nobuhisa; Wilde, Arthur A.M.; Probst, Vincent; Le Marec, Hervé; Roden, Dan M.; Mochizuki, Naoki; Schott, Jean-Jacques; Delmar, Mario Citation Circulation: Arrhythmia and Electrophysiology, 5(1), pp.163-172; 2012
منابع مشابه
A Connexin 40 Mutation Associated with a Malignant Variant of Progressive Familial Heart Block Type-1 Running title: Makita et al.; Connexin40 mutation in familial heart block
Molecular Physiology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki; Cardiology, Tokyo Women’s Medical University; Pediatrics & Child Health, Nihon University School of Medicine, Tokyo, Japan; Cardiology, New York University Medical School, New York, NY; Cell Biology, National Cerebral and Cardiovascular Center Research Institute, Suita; Cardiology, Niigata University Gr...
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Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...
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BACKGROUND Progressive familial heart block type I (PFHBI) is a hereditary arrhythmia characterized by progressive conduction disturbances in the His-Purkinje system. PFHBI has been linked to genes such as SCN5A that influence cardiac excitability but not to genes that influence cell-to-cell communication. Our goal was to explore whether nucleotide substitutions in genes coding for connexin pro...
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تاریخ انتشار 2016