Publications:

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Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.

Biomolecules

Hattori, Atsushi A; Fukami, Maki M

Publication Date: 2023-04-19

Variant appearance in text: NR5A1: Arg313Cys

PubMed Link: 37189438

Variant Present in the following documents:

• Main text
• biomolecules-13-00691.pdf

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Landscape of pathogenic mutations in premature ovarian insufficiency.

Nature Medicine

Ke, Hanni H; Tang, Shuyan S; Guo, Ting T; Hou, Dong D; Jiao, Xue X; Li, Shan S; Luo, Wei W; Xu, Bingying B; Zhao, Shidou S; Li, Guangyu G; Zhang, Xiaoxi X; Xu, Shuhua S; Wang, Lingbo L; Wu, Yanhua Y; Wang, Jiucun J; Zhang, Feng F; Qin, Yingying Y; Jin, Li L; Chen, Zi-Jiang ZJ

Publication Date: 2023-02-02

Variant appearance in text: NR5A1: 937C>T

PubMed Link: 36732629

Variant Present in the following documents:

• 41591_2022_2194_MOESM2_ESM.xlsx, sheet 9

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In vitro cellular reprogramming to model gonad development and its disorders.

Science Advances

Gonen, Nitzan N; Eozenou, Caroline C; Mitter, Richard R; Elzaiat, Maëva M; Stévant, Isabelle I; Aviram, Rona R; Bernardo, Andreia Sofia AS; Chervova, Almira A; Wankanit, Somboon S; Frachon, Emmanuel E; Commère, Pierre-Henri PH; Brailly-Tabard, Sylvie S; Valon, Léo L; Barrio Cano, Laura L; Levayer, Romain R; Mazen, Inas I; Gobaa, Samy S; Smith, James C JC; McElreavey, Kenneth K; Lovell-Badge, Robin R; Bashamboo, Anu A

Publication Date: 2023-01-04

Variant appearance in text: NR5A1: Arg313Cys

PubMed Link: 36598988

Variant Present in the following documents:

• Main text
• sciadv.abn9793.pdf

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[Erratum: clinical and molecular characteristics of patients with 46,xy dsd due to nr5a1 gene mutations (Probl Endokrinol (Mosk). 2020 Sep 16;66(3):62-69. Russian. doi: 10.14341/probl12445)].

Problemy Endokrinologii

Kalinchenko, N Yu NY; Kolodkina, A A AA; Raygorodskaya, N Yu NY; Tiulpakov, A N AN

Publication Date: 2021-12-01

Variant appearance in text: NR5A1: 937C>T; R313C

PubMed Link: 35018768

Variant Present in the following documents:

• Main text
• problendo-67-12848.pdf

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Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.

Orphanet Journal Of Rare Diseases

Cheng, Yiping Y; Chen, Jing J; Zhou, Xinli X; Yang, Jiangfei J; Ji, Yiming Y; Xu, Chao C

Publication Date: 2021-06-10

Variant appearance in text: NR5A1: 937C>T

PubMed Link: 34112222

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1908.pdf

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Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.

Clinics (Sao Paulo, Brazil)

Montenegro, Luciana R LR; Lerário, Antônio M AM; Nishi, Miriam Y MY; Jorge, Alexander A L AAL; Mendonca, Berenice B BB

Publication Date: 2021

Variant appearance in text: NR5A1: Arg313Cys

PubMed Link: 33503178

Variant Present in the following documents:

• Main text
• cln-76-2052.pdf

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Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations.

Frontiers In Pharmacology

Song, Yanning Y; Fan, Lijun L; Gong, Chunxiu C

Publication Date: 2018

Variant appearance in text: NR5A1: 937C>T

PubMed Link: 30425642

Variant Present in the following documents:

• Main text
• fphar-09-01224.pdf

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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Birth Defects Research. Part C, Embryo Today : Reviews

Domenice, Sorahia S; Machado, Aline Zamboni AZ; Ferreira, Frederico Moraes FM; Ferraz-de-Souza, Bruno B; Lerario, Antonio Marcondes AM; Lin, Lin L; Nishi, Mirian Yumie MY; Gomes, Nathalia Lisboa NL; da Silva, Thatiana Evelin TE; Silva, Rosana Barbosa RB; Correa, Rafaela Vieira RV; Montenegro, Luciana Ribeiro LR; Narciso, Amanda A; Costa, Elaine Maria Frade EM; Achermann, John C JC; Mendonca, Berenice Bilharinho BB

Publication Date: 2016-12

Variant appearance in text: NR5A1: Arg313Cys

PubMed Link: 28033660

Variant Present in the following documents:

• Main text
• BDRC-108-309.pdf

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The Genetic and Environmental Factors Underlying Hypospadias.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, And Pathology Of Sex Determination And Differentiation

Bouty, Aurore A; Ayers, Katie L KL; Pask, Andrew A; Heloury, Yves Y; Sinclair, Andrew H AH

Publication Date: 2015

Variant appearance in text: NR5A1: Arg313Cys

PubMed Link: 26613581

Variant Present in the following documents:

• Main text

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Exome sequencing for the diagnosis of 46,XY disorders of sex development.

The Journal Of Clinical Endocrinology And Metabolism

Baxter, Ruth M RM; Arboleda, Valerie A VA; Lee, Hane H; Barseghyan, Hayk H; Adam, Margaret P MP; Fechner, Patricia Y PY; Bargman, Renee R; Keegan, Catherine C; Travers, Sharon S; Schelley, Susan S; Hudgins, Louanne L; Mathew, Revi P RP; Stalker, Heather J HJ; Zori, Roberto R; Gordon, Ora K OK; Ramos-Platt, Leigh L; Pawlikowska-Haddal, Anna A; Eskin, Ascia A; Nelson, Stanley F SF; Délot, Emmanuèle E; Vilain, Eric E

Publication Date: 2015-02

Variant appearance in text: NR5A1: 937C>T; Arg313Cys

PubMed Link: 25383892

Variant Present in the following documents:

• Main text

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Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Plos One

Malikova, Jana J; Camats, Núria N; Fernández-Cancio, Mónica M; Heath, Karen K; González, Isabel I; Caimarí, María M; del Campo, Miguel M; Albisu, Marian M; Kolouskova, Stanislava S; Audí, Laura L; Flück, Christa E CE

Publication Date: 2014

Variant appearance in text: SF-1: Arg313Cys

PubMed Link: 25122490

Variant Present in the following documents:

• pone.0104838.pdf

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Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.

Plos One

Allali, Slimane S; Muller, Jean-Baptiste JB; Brauner, Raja R; Lourenço, Diana D; Boudjenah, Radia R; Karageorgou, Vasiliki V; Trivin, Christine C; Lottmann, Henri H; Lortat-Jacob, Stephen S; Nihoul-Fékété, Claire C; De Dreuzy, Olivier O; McElreavey, Ken K; Bashamboo, Anu A

Publication Date: 2011

Variant appearance in text: NR5A1: Arg313Cys

PubMed Link: 22028768

Variant Present in the following documents:

• Main text
• pone.0024117.pdf

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