کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8477946 | 1550934 | 2011 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Steroidogenic factor-1 (SF-1, NR5A1) and human disease
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کلمات کلیدی
DSDNR5A1Steroidogenic factor-1 (SF-1)primary ovarian insufficiency (POI)POIACTLBDDBDDisorders of sex development - اختلالات رشد جنسیEndometriosis - اندومتریوزAMH - اوAdrenocortical tumor - تومور نارسایی مزمنDNA-Binding Domain - دامنه اتصال DNAligand-binding domain - دامنه اتصال لیگاندInfertility - ناباروریPrimary ovarian insufficiency - نارسایی اولیه تخمدانAdrenal failure - نارسایی قلبی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
پیش نمایش صفحه اول مقاله

چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular and Cellular Endocrinology - Volume 336, Issues 1â2, 10 April 2011, Pages 198-205
Journal: Molecular and Cellular Endocrinology - Volume 336, Issues 1â2, 10 April 2011, Pages 198-205
نویسندگان
Bruno Ferraz-de-Souza, Lin Lin, John C. Achermann,