Mutations inNR5A1Associated with Ovarian Insufficiency | Zendy

Diana Lourenço | Zendy; Raja Brauner | Zendy; Lin Lin | Zendy; Arantzazu De Perdigo | Zendy; G. Weryha | Zendy; Mihaela Mureşan | Zendy; Radia Boudjenah | Zendy; Gil GuerraJúnior | Zendy; Andréa Trevas MacielGuerra | Zendy; John C. Achermann | Zendy; Ken McElreavey | Zendy; Anu Bashamboo | Zendy

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Mutations inNR5A1Associated with Ovarian Insufficiency

Author(s) -

Diana Lourenço,

Raja Brauner,

Lin Lin,

Arantzazu De Perdigo,

G. Weryha,

Mihaela Mureşan,

Radia Boudjenah,

Gil GuerraJúnior,

Andréa Trevas MacielGuerra,

John C. Achermann,

Ken McElreavey,

Anu Bashamboo

Publication year - 2009

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa0806228

Subject(s) - adrenal insufficiency , steroidogenic factor 1 , frameshift mutation , missense mutation , gonadal dysgenesis , medicine , endocrinology , primary adrenal insufficiency , mutation , biology , genetics , gene , nuclear receptor , transcription factor

The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies in mice suggests a key role for this factor in ovarian development and function as well.

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