Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency-Reference-Cited by-同舟云学术

Five novel mutations in steroidogenic factor 1 (SF1,NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Published:2007 Issue:1 Volume:29 Page:59-64
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Köhler Birgit,Lin Lin,Ferraz-de-Souza Bruno,Wieacker Peter,Heidemann Peter,Schröder Vanessa,Biebermann Heike,Schnabel Dirk,Grüters Annette,Achermann John C.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

2. Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

3. The Glucocorticoid Receptor Interacting Protein 1 (GRIP1) Localizes in Discrete Nuclear Foci That Associate with ND10 Bodies and Are Enriched in Components of the 26S Proteasome

4. Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency

5. Transient, Ligand-Dependent Arrest of the Androgen Receptor in Subnuclear Foci Alters Phosphorylation and Coactivator Interactions

Cited by 129 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 46,ΧΥ DSD in an adolescent with a novel de novo variant of the NR5A1 gene - case report and literature review;Hormones;2024-07-25

2. Conserved genes regulating human sex differentiation, gametogenesis and fertilization;Journal of Translational Medicine;2024-05-19

3. Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study;The Journal of Clinical Endocrinology & Metabolism;2024-04-16

4. Carp Growth, Body Composition, Lipidomics, And Flesh Quality in Response to Replacing Dietary Fish Meal with a Complex Protein Source;2024