Associated Papers
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.
Hattori A et al.
Biomolecules, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.
Barros BA et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Gau M et al.
Frontiers in Endocrinology, 2022
The acyl chains of phosphoinositide PIP3 alter the structure and function of nuclear receptor steroidogenic factor-1.
Bryant JM et al.
Journal of Lipid Research, 2021
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
Knarston IM et al.
Human Mutation, 2019
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
Chan AO et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2015
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