关于与雄激素受体突变相关疾病的思考
Reflections on the diseases linked to mutations of the androgen receptor.
作者信息
Poletti Angelo, Negri-Cesi Paola, Martini Luciano
机构信息
Department of Endocrinology and Centre of Excellence on Neurodegenerative Diseases, University of Milano, Italy.
出版信息
Endocrine. 2005 Dec;28(3):243-62. doi: 10.1385/ENDO:28:3:243.
PMID:16388114
Abstract
This review summarizes the most recent information on two pathologies linked to mutations of the androgen receptor, namely, the complete androgen insensitivity syndrome (CAIS) and the spinal and bulbar muscular atrophy (SBMA or Kennedy's disease). Data on the clinical manifestations of the two diseases are presented, together with the most relevant findings on their physiopathology and genetics.
摘要
本综述总结了与雄激素受体突变相关的两种病理状况的最新信息，即完全性雄激素不敏感综合征（CAIS）和脊髓延髓肌萎缩症（SBMA或肯尼迪病）。文中介绍了这两种疾病的临床表现数据，以及它们在生理病理学和遗传学方面的最相关研究结果。
Zotero 插件