Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development-Reference-Cited by-同舟云学术

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

Published:2017-11-08 Issue:1 Volume:39 Page:114-123
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fabbri-Scallet Helena¹^ORCID,de Mello Maricilda Palandi¹,Guerra-Júnior Gil²³,Maciel-Guerra Andréa Trevas³⁴,de Andrade Juliana Gabriel Ribeiro³⁴,de Queiroz Camila Maia Costa⁵,Monlleó Isabella Lopes⁵,Struve Dagmar⁶,Hiort Olaf⁶,Werner Ralf⁶

Affiliation:

1. Center for Molecular Biology and Genetic Engineering - CBMEG; State University of Campinas; São Paulo Brazil

2. Department of Pediatrics; Faculty of Medical Sciences; State University of Campinas; São Paulo Brazil

3. Interdisciplinary Group for the Study of Sex Determination and Differentiation - GIEDDS; State University of Campinas; São Paulo Brazil

4. Department of Medical Genetics; Faculty of Medical Sciences; State University of Campinas; São Paulo Brazil

5. Clinical Genetics Service; Faculty of Medicine; Federal University of Alagoas; Maceió Alagoas Brazil

6. Department of Paediatric and Adolescent Medicine; Division of Paediatric Endocrinology and Diabetes; Center of Brain; Behavior and Metabolism; University of Luebeck; Luebeck Germany

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Medizinische Genetik

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference42 articles.

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2. DSDs: Genetics, underlying pathologies and psychosexual differentiation;Arboleda;Nature Reviews Endocrinology,2014

3. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development;Bashamboo;Human Molecular Genetics,2016

4. Exome sequencing for the diagnosis of 46,XY disorders of sex development;Baxter;Journal of Clinical Endocrinology and Metabolism,2015

5. In vivo evidence for the crucial role of SF1 in steroid-producing cells of the testis, ovary and adrenal gland;Buaas;Development,2012

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2. Genetic control of typical and atypical sex development;Nature Reviews Urology;2023-04-05

3. Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development;Molecular Human Reproduction;2023-01-02

4. Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation;Asian Journal of Andrology;2023

5. Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development;Italian Journal of Pediatrics;2022-03-24