文献

J-GLOBAL ID：201702235022662966   整理番号：17A0135454

常染色体優性骨粗鬆症(II型)を持つ中国人家族における2つの新しいCLCN7遺伝子変異

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II)

著者 (15件)： Zheng Hui (Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China) ,  Zheng Hui (Shanghai Key Clinical Center for Metabolic Disease, Shanghai, People’s Republic of China) ,  Shao Chong (Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China) ,  Shao Chong (Shanghai Key Clinical Center for Metabolic Disease, Shanghai, People’s Republic of China) ,  Zheng Yan (Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China) ,  Zheng Yan (Shanghai Key Clinical Center for Metabolic Disease, Shanghai, People’s Republic of China) ,  Zheng Yan (Department of Endocrinology, Yueqing Hospital Affiliated to Wenzhou Medical University, Yueqing, Zhejiang, People’s Republic of China) ,  He Jin-Wei (Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China) ,  He Jin-Wei (Shanghai Key Clinical Center for Metabolic Disease, Shanghai, People’s Republic of China) ,  Fu Wen-Zhen (Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China) ,  Fu Wen-Zhen (Shanghai Key Clinical Center for Metabolic Disease, Shanghai, People’s Republic of China) ,  Wang Chun (Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China) ,  Wang Chun (Shanghai Key Clinical Center for Metabolic Disease, Shanghai, People’s Republic of China) ,  Zhang Zhen-Lin (Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, People’s Republic of China) ,  Zhang Zhen-Lin (Shanghai Key Clinical Center for Metabolic Disease, Shanghai, People’s Republic of China)
資料名： Journal of Bone and Mineral Metabolism  (Journal of Bone and Mineral Metabolism)
巻： 34  号： 4  ページ： 440-446  発行年： 2016年 
JST資料番号： L0163A  ISSN： 0914-8779  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： ドイツ (DEU)  言語： 英語 (EN)

抄録/ポイント： 常染色体優性2型骨粗鬆症(ADO-II)は椎骨(椎骨終板肥厚...

シソーラス用語： *骨粗鬆症 ,...
準シソーラス用語： 常染色体性優性遺伝 ,...

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著者キーワード (3件)： Autosomal dominant osteopetrosis type II ,  CLCN7 ,  Mutation

分類 (2件)： 運動器系の基礎医学  (GG01020B) ,  分子遺伝学一般  (EC02010J)

引用文献 (24件)：

• Johnston CC Jr., Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP Jr (1968) Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine 47:149-167
• Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W (2001) Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet 10:2861-2867
• Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104:205-215
• Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M et al (2003) Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 18:1740-1747
• Campos-Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier-Daire V (2003) Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Hum Genet 112:186-189

タイトルに関連する用語 (6件)： 常染色体 ,  優性 ,  骨粗鬆症 ,  中国人 ,  家族 ,  遺伝子変異