Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
复制标题
DOI：
10.1016/j.mce.2010.11.006
复制
发表时间：
2011-04-10
影响因子：
4.1
通讯作者：
Achermann, John C.
中科院分区：
文献类型：
--
作者：
Ferraz-de-Souza, Bruno;Lin, Lin;Achermann, John C.
关键词：
类固醇生成因子-1（SF-1、Ad4BP，由 NR5A1 编码）是肾上腺和生殖发育及功能的关键调节因子。根据在 Nr5a1 缺失小鼠中发现的特征，识别人类 SF-1 变化的初步尝试集中于那些患有原发性肾上腺衰竭、46,XY 核型、完全性腺发育不全和苗勒管结构的罕见个体。尽管在两例此类病例中发现了影响 SF-1 DNA 结合的改变，但 SF-1 破坏在肾上腺衰竭患者中并不常见。相比之下，人们发现 SF-1 的变异与一系列人类生殖表型相关，例如 46,XY 性发育障碍 (DSD)、尿道下裂、无睾症、男性因素不孕或女性原发性卵巢功能不全。据报道，某些肾上腺肿瘤或子宫内膜异位症中也有 SF-1 过度表达或过度活性的情况。因此，与 SF-1 变异相关的临床表型范围正在扩大，并且这种核受体在人类内分泌疾病中的重要性现已得到牢固确立。
Steroidogenic factor-1 (SF-1, Ad4BP, encoded by NR5A1) is a key regulator of adrenal and reproductive development and function. Based upon the features found in Nr5a1 null mice, initial attempts to identify SF-1 changes in humans focused on those rare individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis and Müllerian structures. Although alterations affecting DNA-binding of SF-1 were found in two such cases, disruption of SF-1 is not commonly found in patients with adrenal failure. In contrast, it is emerging that variations in SF-1 can be found in association with a range of human reproductive phenotypes such as 46,XY disorders of sex development (DSD), hypospadias, anorchia, male factor infertility, or primary ovarian insufficiency in women. Overexpression or overactivity of SF-1 is also reported in some adrenal tumors or endometriosis. Therefore, the clinical spectrum of phenotypes associated with variations in SF-1 is expanding and the importance of this nuclear receptor in human endocrine disease is now firmly established.
登录
查看更多内容
DOI：
10.1056/nejmoa0806228
发表时间：
2009-03-19
期刊：
The New England journal of medicine
影响因子：
--
作者：
Lourenço D;Brauner R;Lin L;De Perdigo A;Weryha G;Muresan M;Boudjenah R;Guerra-Junior G;Maciel-Guerra AT;Achermann JC;McElreavey K;Bashamboo A
通讯作者：
Bashamboo A
46例患有严重不给源性的XY患者，但没有肾上腺功能不全。
影响因子：
3.9
作者：
Koehler, Birgit;Lin, Lin;Ferraz-de-souza, Bruno;Wieacker, Peter;Heidemann, Peter;Schroeder, Vanessa;Biebermann, Heike;Schnabel, Dirk;Grueters, Annette;Achermann, John C.
通讯作者：
Achermann, John C.
影响因子：
5.8
作者：
Correa, RV;Domenice, S;Mendonca, BB
通讯作者：
Mendonca, BB
影响因子：
5.8
作者：
Hasegawa, T;Fukami, M;Ogata, T
通讯作者：
Ogata, T
影响因子：
4.8
作者：
Majdic, G;Young, M;Parker, KL
通讯作者：
Parker, KL