NR5A1 c.437G>C ;(p.G146A)

Variant ID: 9-127262802-C-G

NM_004959.4(NR5A1):c.437G>C;(p.G146A)

This variant was identified in 53 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: NR5A1: G146A
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

International Journal Of Molecular Sciences
Chen, Mengchi M; Jiang, Haotian H; Zhang, Chunping C
Publication Date: 2023-02-23

Variant appearance in text: NR5A1: 437G>C
PubMed Link: 36901862
Variant Present in the following documents:
  • Main text
  • ijms-24-04423.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology
Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F
Publication Date: 2022-10-26

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 36289370
Variant Present in the following documents:
  • 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12
  • 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: NR5A1: 437G>C; G146A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



WT1, NR0B1, NR5A1, LHX9, ZFP92, ZNF275, INSL3, and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort.

Genes
Ramos, Luis L
Publication Date: 2022-03-29

Variant appearance in text: NR5A1: 437G>C; rs1110061
PubMed Link: 35456418
Variant Present in the following documents:
  • Main text
  • genes-13-00611.pdf
View BVdb publication page



SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.

African Health Sciences
Kherouatou-Chaoui, Naouel N; Chellat-Rezgoune, Djalila D; Rezgoune, Mohamed Larbi ML; Mc Elreavey, Ken K; Touabti, Laaldja Souhem LS; Abadi, Noreddine N; Satta, Dalila D
Publication Date: 2021-09

Variant appearance in text:
PubMed Link: 35222615
Variant Present in the following documents:
  • AFHS2103-1491.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: NR5A1: G146A
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience
Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD
Publication Date: 2022-01-21

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 35036865
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Pubertal development in 46,XY patients with NR5A1 mutations.

Endocrine
Mönig, Isabel I; Schneidewind, Julia J; Johannsen, Trine H TH; Juul, Anders A; Werner, Ralf R; Lünstedt, Ralf R; Birnbaum, Wiebke W; Marshall, Louise L; Wünsch, Lutz L; Hiort, Olaf O
Publication Date: 2021-10-06

Variant appearance in text: NR5A1: 437G>C
PubMed Link: 34613524
Variant Present in the following documents:
  • Main text
  • 12020_2021_Article_2883.pdf
View BVdb publication page



Pubertal development in 46,XY patients with NR5A1 mutations.

Endocrine
Mönig, Isabel I; Schneidewind, Julia J; Johannsen, Trine H TH; Juul, Anders A; Werner, Ralf R; Lünstedt, Ralf R; Birnbaum, Wiebke W; Marshall, Louise L; Wünsch, Lutz L; Hiort, Olaf O
Publication Date: 2022-02

Variant appearance in text: NR5A1: 437G>C
PubMed Link: 34613524
Variant Present in the following documents:
  • Main text
  • 12020_2021_Article_2883.pdf
View BVdb publication page



New Insights of SF1 Neurons in Hypothalamic Regulation of Obesity and Diabetes.

International Journal Of Molecular Sciences
Fosch, Anna A; Zagmutt, Sebastián S; Casals, Núria N; Rodríguez-Rodríguez, Rosalía R
Publication Date: 2021-06-08

Variant appearance in text: SF-1: Gly146Ala
PubMed Link: 34201257
Variant Present in the following documents:
  • ijms-22-06186.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: NR5A1: 437G>C; rs1110061
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetics of Azoospermia.

International Journal Of Molecular Sciences
Cioppi, Francesca F; Rosta, Viktoria V; Krausz, Csilla C
Publication Date: 2021-03-23

Variant appearance in text: NR5A1: Gly146Ala
PubMed Link: 33806855
Variant Present in the following documents:
  • Main text
  • ijms-22-03264.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: NR5A1: Gly146Ala; rs1110061
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: Gly146Ala
PubMed Link: 33503178
Variant Present in the following documents:
  • Main text
  • cln-76-2052.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs1110061
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



New frontiers on the molecular underpinnings of hypospadias according to severity.

Arab Journal Of Urology
Piñeyro-Ruiz, Coriness C; Serrano, Horacio H; Pérez-Brayfield, Marcos R MR; Jorge, Juan Carlos JC
Publication Date: 2020-05-24

Variant appearance in text: SF-1: G146A
PubMed Link: 33312738
Variant Present in the following documents:
  • TAJU_18_1760589.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications
Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B
Publication Date: 2020-04-09

Variant appearance in text: NR5A1: G146A
PubMed Link: 32273506
Variant Present in the following documents:
  • 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.

Journal Of Assisted Reproduction And Genetics
Pan, Sinian S; Guo, Shili S; Liu, Liting L; Yang, Xiaoyuan X; Liang, Hanmei H
Publication Date: 2020-02

Variant appearance in text: NR5A1: G146A
PubMed Link: 31938931
Variant Present in the following documents:
  • Main text
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: NR5A1: 437G>C; Gly146Ala; rs1110061
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM2_ESM.xls, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: NR5A1: 437G>C; Gly146Ala; rs1110061
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Plos One
Skarp, Sini S; Kämäräinen, Olli-Pekka OP; Wei, Gong-Hong GH; Jakkula, Eveliina E; Kiviranta, Ilkka I; Kröger, Heikki H; Auvinen, Juha J; Lehenkari, Petri P; Ala-Kokko, Leena L; Männikkö, Minna M
Publication Date: 2018

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 30157244
Variant Present in the following documents:
  • pone.0203313.s001.xlsx, sheet 1
View BVdb publication page



Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Molecular Genetics & Genomic Medicine
Sproll, Patrick P; Eid, Wassim W; Gomes, Camila R CR; Mendonca, Berenice B BB; Gomes, Nathalia L NL; Costa, Elaine M-F EM; Biason-Lauber, Anna A
Publication Date: 2018-09

Variant appearance in text: NR5A1: 437G>C; Gly146Ala; rs1110061
PubMed Link: 29998616
Variant Present in the following documents:
  • Main text
  • MGG3-6-785.pdf
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: NR5A1: 437G>C; G146A; rs1110061
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 5
  • MGG3-6-739-s002.xlsx, sheet 7
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: rs1110061
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 27
View BVdb publication page



Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

Human Mutation
Robevska, Gorjana G; van den Bergen, Jocelyn A JA; Ohnesorg, Thomas T; Eggers, Stefanie S; Hanna, Chloe C; Hersmus, Remko R; Thompson, Elizabeth M EM; Baxendale, Anne A; Verge, Charles F CF; Lafferty, Antony R AR; Marzuki, Nanis S NS; Santosa, Ardy A; Listyasari, Nurin A NA; Riedl, Stefan S; Warne, Garry G; Looijenga, Leendert L; Faradz, Sultana S; Ayers, Katie L KL; Sinclair, Andrew H AH
Publication Date: 2018-01

Variant appearance in text: NR5A1: Gly146Ala
PubMed Link: 29027299
Variant Present in the following documents:
  • HUMU-39-124.pdf
View BVdb publication page



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: 437G>C; Gly146Ala; rs1110061
PubMed Link: 28033660
Variant Present in the following documents:
  • Main text
  • BDRC-108-309.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: NR5A1: 437G>C; G146A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1110061
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.

Best Practice & Research. Clinical Endocrinology & Metabolism
Suntharalingham, Jenifer P JP; Buonocore, Federica F; Duncan, Andrew J AJ; Achermann, John C JC
Publication Date: 2015-08

Variant appearance in text: NR5A1: G146A
PubMed Link: 26303087
Variant Present in the following documents:
  • Main text
  • emss-70736.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: NR5A1: G146A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: NR5A1: G146A; rs1110061
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Publication Date: 2014-05

Variant appearance in text: NR5A1: G146A
PubMed Link: 24705254
Variant Present in the following documents:
  • NIHMS4215-supplement-10.xlsx, sheet 2
View BVdb publication page



Premature ovarian failure: a critical condition in the reproductive potential with various genetic causes.

International Journal Of Fertility & Sterility
Pouresmaeili, Farkhondeh F; Fazeli, Zahra Z
Publication Date: 2014-04

Variant appearance in text: SF-1: Gly146Ala
PubMed Link: 24696764
Variant Present in the following documents:
  • Int-J-Fertil-Steril-8-1.pdf
View BVdb publication page



Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

Plos One
Jiao, Xue X; Qin, Yingying Y; Li, Guangyu G; Zhao, Shidou S; You, Li L; Ma, Jinlong J; Simpson, Joe Leigh JL; Chen, Zi-Jiang ZJ
Publication Date: 2013

Variant appearance in text: NR5A1: Gly146Ala; rs1110061
PubMed Link: 24073220
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs1110061
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.

European Journal Of Human Genetics : Ejhg
Röpke, Albrecht A; Tewes, Ann-Christin AC; Gromoll, Jörg J; Kliesch, Sabine S; Wieacker, Peter P; Tüttelmann, Frank F
Publication Date: 2013-09

Variant appearance in text: NR5A1: 437G>C; Gly146Ala; rs1110061
PubMed Link: 23299922
Variant Present in the following documents:
  • Main text
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Steroidogenic factor-1 and human disease.

Seminars In Reproductive Medicine
El-Khairi, Ranna R; Achermann, John C JC
Publication Date: 2012-10

Variant appearance in text: SF-1: G146A
PubMed Link: 23044873
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  • Main text
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A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.

Clinical Endocrinology
Wu, Joyce Y JY; McGown, Ivan N IN; Lin, Lin L; Achermann, John C JC; Harris, Mark M; Cowley, David M DM; Aftimos, Salim S; Neville, Kristen A KA; Choong, Catherine S CS; Cotterill, Andrew M AM
Publication Date: 2013-04

Variant appearance in text: SF-1: 437G>C
PubMed Link: 22909003
Variant Present in the following documents:
  • Main text
  • cen0078-0545.pdf
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Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families.

Plos One
Hudson, Jessica J R JJ; Bednarova, Katerina K; Kozakova, Lucie L; Liao, Chunyan C; Guerineau, Marc M; Colnaghi, Rita R; Vidot, Susanne S; Marek, Jaromir J; Bathula, Sreenivas R SR; Lehmann, Alan R AR; Palecek, Jan J
Publication Date: 2011-02-25

Variant appearance in text: SF-1: G146A
PubMed Link: 21364888
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  • Main text
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Steroidogenic factor-1 (SF-1, NR5A1) and human disease.

Molecular And Cellular Endocrinology
Ferraz-de-Souza, Bruno B; Lin, Lin L; Achermann, John C JC
Publication Date: 2011-04-10

Variant appearance in text: SF-1: G146A; rs1110061
PubMed Link: 21078366
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  • Main text
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Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.

American Journal Of Human Genetics
Bashamboo, Anu A; Ferraz-de-Souza, Bruno B; Lourenço, Diana D; Lin, Lin L; Sebire, Neil J NJ; Montjean, Debbie D; Bignon-Topalovic, Joelle J; Mandelbaum, Jacqueline J; Siffroi, Jean-Pierre JP; Christin-Maitre, Sophie S; Radhakrishna, Uppala U; Rouba, Hassan H; Ravel, Celia C; Seeler, Jacob J; Achermann, John C JC; McElreavey, Ken K
Publication Date: 2010-10-08

Variant appearance in text: NR5A1: Gly146Ala; rs1110061
PubMed Link: 20887963
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Mutations in NR5A1 associated with ovarian insufficiency.

The New England Journal Of Medicine
Lourenço, Diana D; Brauner, Raja R; Lin, Lin L; De Perdigo, Arantzazu A; Weryha, Georges G; Muresan, Mihaela M; Boudjenah, Radia R; Guerra-Junior, Gil G; Maciel-Guerra, Andréa T AT; Achermann, John C JC; McElreavey, Ken K; Bashamboo, Anu A
Publication Date: 2009-03-19

Variant appearance in text:
PubMed Link: 19246354
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Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, And Pathology Of Sex Determination And Differentiation
Lin, L L; Achermann, J C JC
Publication Date: 2008

Variant appearance in text: NR5A1: G146A
PubMed Link: 18987494
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  • Main text
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.

Human Reproduction (Oxford, England)
Philibert, Pascal P; Zenaty, Delphine D; Lin, Lin L; Soskin, Sylvie S; Audran, Françoise F; Léger, Juliane J; Achermann, John C JC; Sultan, Charles C
Publication Date: 2007-12

Variant appearance in text: NR5A1: G146A
PubMed Link: 17940071
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Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

Human Mutation
Köhler, Birgit B; Lin, Lin L; Ferraz-de-Souza, Bruno B; Wieacker, Peter P; Heidemann, Peter P; Schröder, Vanessa V; Biebermann, Heike H; Schnabel, Dirk D; Grüters, Annette A; Achermann, John C JC
Publication Date: 2008-01

Variant appearance in text: NR5A1: 437G>C; G146A; rs1110061
PubMed Link: 17694559
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  • Main text
  • humu0029-0059.pdf
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Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

The Journal Of Clinical Endocrinology And Metabolism
Lin, Lin L; Philibert, Pascal P; Ferraz-de-Souza, Bruno B; Kelberman, Daniel D; Homfray, Tessa T; Albanese, Assunta A; Molini, Veruska V; Sebire, Neil J NJ; Einaudi, Silvia S; Conway, Gerard S GS; Hughes, Ieuan A IA; Jameson, J Larry JL; Sultan, Charles C; Dattani, Mehul T MT; Achermann, John C JC
Publication Date: 2007-03

Variant appearance in text: NR5A1: G146A
PubMed Link: 17200175
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  • Main text
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