Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.D257N
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NR5A1

NM_004959.5:p.D257N

Associated Papers

The relationship between primary ovarian insufficiency and gene variations: a prospective case-control study.

Gündüz R et al.

Women & Health, 2024

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 mutations are not associated with male infertility in Indian men.

Sudhakar DVS et al.

Andrologia, 2018

The genetics of premature ovarian failure: current perspectives.

Chapman C et al.

International Journal of Women's Health, 2015

The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1.

Blind RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.

Röpke A et al.

European Journal of Human Genetics : Ejhg, 2013

Genetic analysis of the mammalian transforming growth factor-beta superfamily.

Chang H et al.

Endocrine Reviews, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."