Art

J-GLOBAL ID：201402247321350779   Reference number：14A0216105

Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome

タンニン酸は,先天性筋無力症においてhnRNP H破壊突然変異によるポリピリミジントラクト結合タンパク質の発現を促進し,有害なCHRNA1エクソンP3A混入を軽減する

Author (7)： BIAN Yang (Center for Neurological Diseases and Cancer, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  MASUDA Akio (Center for Neurological Diseases and Cancer, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  MATSUURA Tohru (Center for Neurological Diseases and Cancer, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  ITO Mikako (Center for Neurological Diseases and Cancer, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  OKUSHIN Kazuya (Center for Neurological Diseases and Cancer, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN) ,  ENGEL Andrew G. (Dep. of Neurology and Neuromuscular Res. Lab., Mayo Clinic, Rochester, MN, USA) ,  OHNO Kinji (Center for Neurological Diseases and Cancer, Nagoya Univ. Graduate School of Medicine, Nagoya, JPN)
Material： Human Molecular Genetics  (Hum Mol Genet)
Volume： 18  Issue： 7  Page： 1229-1237  Publication year： Apr. 01, 2009 
JST Material Number： W0445A  ISSN： 0964-6906  CODEN： HMGEE5  Document type： Article
Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Terms in the title (11)： タンニン酸 ,  筋無力症 ,  hnRNP ,  破壊 ,  突然変異 ,  ポリピリミジントラクト結合タンパク質 ,  発現 ,  促進 ,  エクソン ,  P3a ,  混入