Art

J-GLOBAL ID：201802289039626914   Reference number：18A1227241

A Novel Truncating LMNA Mutation in Patients with Cardiac Conduction Disorders and Dilated Cardiomyopathy

心臓伝導不全および拡張型心筋症患者における新規短縮型LMNA変異

Author (18)： Kawakami Hiroshi (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Ogimoto Akiyoshi (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Tokunaga Naohito (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Nishimura Kazuhisa (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Kawakami Hideo (Department of Cardiology, Ehime Prefectural Imabari Hospital) ,  Higashi Haruhiko (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Iio Chiharuko (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Kono Tamami (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Aono Jun (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Uetani Teruyoshi (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Nagai Takayuki (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Inoue Katsuji (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Suzuki Jun (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Ikeda Shuntaro (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Okura Takafumi (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine) ,  Ohyagi Yasumasa (Department of Geriatric Medicine, Ehime University Graduate School of Medicine) ,  Tabara Yasuharu (Center for Genomic Medicine, Kyoto University Graduate School of Medicine) ,  Higaki Jitsuo (Department of Cardiology, Pulmonology, Hypertension & Nephrology, Ehime University Graduate School of Medicine)
Material： International Heart Journal (Web)
Volume： 59  Issue： 3  Page： 531-541(J-STAGE)  Publication year： 2018 
JST Material Number： U1357A  ISSN： 1349-3299  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *arrhythmia ,...
Semi thesaurus term： genetic variation ,...

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Author keywords (6)： Lamin A/C ,  Laminopathy ,  Targeted resequencing ,  Gender difference ,  Cardiovascular disease-associated gene ,  Truncating mutation

JST classification (1)： Cardiovascular system diseases  (GJ03000C)

Reference (32)：

• 1. Mounkes LC, Burke B, Stewart CL. The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases. Trends Cardiovasc Med 2001; 11: 280-5. (Review)
• 2. Mattout A, Dechat T, Adam SA, Goldman RD, Gruenbaum Y. Nuclear lamins, diseases and aging. Curr Opin Cell Biol 2006; 18: 335-41. (Review)
• 3. Rankin J, Ellard S. The laminopathies: a clinical review. Clin Genet 2006; 70: 261-74.
• 4. Worman HJ. Nuclear lamins and laminopathies. J Pathol 2012; 226: 316-25. (Review)
• 5. Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999; 341: 1715-24.

Terms in the title (5)： 心臓 ,  伝導 ,  拡張型心筋症 ,  患者 ,  変異