نتایج جستجو برای: nr5a1

تعداد نتایج: 360  

Journal: :Human Mutation 2008
Birgit Köhler Lin Lin Bruno Ferraz-de-Souza Peter Wieacker Peter Heidemann Vanessa Schröder Heike Biebermann Dirk Schnabel Annette Grüters John C Achermann

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may...

Journal: :Annales d'endocrinologie 2017
Karine Gerster Anna Biason-Lauber Eugen J Schoenle

OBJECTIVE Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the...

2011
Bruno Ferraz-de-Souza Lin Lin John C. Achermann

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...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2017

2017
Johanna Tomorsky Leah DeBlander Clifford G Kentros Chris Q Doe Cristopher M Niell

Thiouracil (TU)-tagging is an intersectional method for covalently labeling newly transcribed RNAs within specific cell types. Cell type specificity is generated through targeted transgenic expression of the enzyme uracil phosphoribosyl transferase (UPRT); temporal specificity is generated through a pulse of the modified uracil analog 4TU. This technique has been applied in mouse using a Cre-de...

Journal: :Physical review letters 1995
Gibbs Ai Kaufmann

Since isospin symmetry is only approximate, the discrepancy in this relation, D ; fCEX 2 sf1 2 f2dy p 2, is expected to be nonzero. Interesting physics lies in the violation of this relation beyond effects due to the hadronic mass differences and the Coulomb interaction. It is the purpose of this Letter to demonstrate that recent experimental data at low energies require a residual contribution...

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