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    NR5A1 nuclear receptor subfamily 5 group A member 1 [ Homo sapiens (human) ]

    Gene ID: 2516, updated on 28-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The acyl chains of phosphoinositide PIP3 alter the structure and function of nuclear receptor steroidogenic factor-1.

    The acyl chains of phosphoinositide PIP3 alter the structure and function of nuclear receptor steroidogenic factor-1.
    Bryant JM, Malabanan MM, Vanderloop BH, Nichols CM, Haratipour Z, Poon KT, Sherrod SD, McLean JA, Blind RD., Free PMC Article

    08/26/2024
    FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells.

    FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian granulosa-like cells.
    Wen F, Ding Y, Wang M, Du J, Zhang S, Kee K., Free PMC Article

    05/24/2024
    Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

    Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
    Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, Fanslow C, Rowell WJ, Care4Rare Canada Consortium, Marshall CR, Kernohan KD, Boycott KM.

    04/18/2024
    Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.

    Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.
    Behvarz M, Rahmani SA, Siasi Torbati E, Danaei Mehrabad S, Bikhof Torbati M.

    04/8/2024
    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

    A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.
    Houzelstein D, Eozenou C, Lagos CF, Elzaiat M, Bignon-Topalovic J, Gonzalez I, Laville V, Schlick L, Wankanit S, Madon P, Kirtane J, Athalye A, Buonocore F, Bigou S, Conway GS, Bohl D, Achermann JC, Bashamboo A, McElreavey K., Free PMC Article

    04/1/2024
    Steroidogenic Factor-1 form and function: From phospholipids to physiology.

    Steroidogenic Factor-1 form and function: From phospholipids to physiology.
    Campbell AN, Choi WJ, Chi ES, Orun AR, Poland JC, Stivison EA, Kubina JN, Hudson KL, Loi MNC, Bhatia JN, Gilligan JW, Quintanà AA, Blind RD.,

    02/26/2024
    Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.

    Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show distinct clinicopathological and molecular features.
    Dottermusch M, Ryba A, Ricklefs FL, Flitsch J, Schmid S, Glatzel M, Saeger W, Neumann JE, Schüller U., Free PMC Article

    02/6/2024
    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

    Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
    Kouri C, Sommer G, Martinez de Lapiscina I, Elzenaty RN, Tack LJW, Cools M, Ahmed SF, Flück CE, SF1next study group., Free PMC Article

    02/1/2024
    Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.

    Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
    Cools M, Grijp C, Neirinck J, Tavernier SJ, Schelstraete P, Van De Velde J, Morbée L, De Baere E, Bonroy C, van Bever Y, Bruggenwirth H, Vermont C, Hannema SE, De Rijke Y, Abdulhadi-Atwan M, Zangen D, Verdin H, Haerynck F.

    01/27/2024
    SF-1 Induces Nuclear PIP2.

    SF-1 Induces Nuclear PIP2.
    Chi ES, Stivison EA, Blind RD., Free PMC Article

    11/16/2023
    Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.

    Multilineage Pituitary Neuroendocrine Tumors (PitNETs) Expressing PIT1 and SF1.
    Asa SL, Mete O, Riddle ND, Perry A.

    09/29/2023
    Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

    Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
    Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE., Free PMC Article

    07/19/2023
    Steroidogenic Factor 1, a Goldilocks Transcription Factor from Adrenocortical Organogenesis to Malignancy.

    Steroidogenic Factor 1, a Goldilocks Transcription Factor from Adrenocortical Organogenesis to Malignancy.
    Relav L, Doghman-Bouguerra M, Ruggiero C, Muzzi JCD, Figueiredo BC, Lalli E., Free PMC Article

    03/17/2023
    Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.

    Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.
    Barros BA, Guaragna MS, Fabbri-Scallet H, Palandi de Mello M, Guerra-Júnior G, Maciel-Guerra AT.

    02/22/2023
    Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?

    Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
    Fabbri-Scallet H, Werner R, Guaragna MS, de Andrade JGR, Maciel-Guerra AT, Hornig NC, Hiort O, Guerra-Júnior G, de Mello MP.

    02/14/2023
    Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells.

    Steroidogenic factor 1 (NR5A1) induces multiple transcriptional changes during differentiation of human gonadal-like cells.
    Sepponen K, Lundin K, Yohannes DA, Vuoristo S, Balboa D, Poutanen M, Ohlsson C, Hustad S, Bifulco E, Paloviita P, Otonkoski T, Ritvos O, Sainio K, Tapanainen JS, Tuuri T.

    12/3/2022
    Diagnostic and prognostic utility of SF-1 in adrenal cortical tumours.

    Diagnostic and prognostic utility of SF-1 in adrenal cortical tumours.
    Maity P, Mondal A, Das R, Sengupta M, Gargari P, Kar A, Sarkar D, Mukhopadhyay S, Chowdhury S, Chatterjee U.

    11/5/2022
    The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.

    The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
    Di-Luoffo M, Pierre KJ, Robert NM, Girard MJ, Tremblay JJ.

    08/6/2022
    Pubertal development in 46,XY patients with NR5A1 mutations.

    Pubertal development in 46,XY patients with NR5A1 mutations.
    Mönig I, Schneidewind J, Johannsen TH, Juul A, Werner R, Lünstedt R, Birnbaum W, Marshall L, Wünsch L, Hiort O., Free PMC Article

    03/26/2022
    SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.

    SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.
    Kherouatou-Chaoui N, Chellat-Rezgoune D, Rezgoune ML, Mc Elreavey K, Touabti LS, Abadi N, Satta D., Free PMC Article

    03/5/2022
    Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

    Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.
    Xia J, Wu J, Chen C, Zhao Z, Xie Y, Bai Z, Kong X.

    01/29/2022
    [Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].

    [Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
    Kalinchenko NY, Kolodkina AA, Raygorodskaya NY, Tiulpakov AN.

    10/30/2021
    Immunohistochemical Characterization of 120 Testicular Sex Cord-Stromal Tumors With an Emphasis on the Diagnostic Utility of SOX9, FOXL2, and SF-1.

    Immunohistochemical Characterization of 120 Testicular Sex Cord-Stromal Tumors With an Emphasis on the Diagnostic Utility of SOX9, FOXL2, and SF-1.
    Lau HD, Kao CS, Williamson SR, Cheng L, Ulbright TM, Idrees MT.

    10/9/2021
    Coordination of Multiple Cellular Processes by NR5A1/Nr5a1.

    Coordination of Multiple Cellular Processes by NR5A1/Nr5a1.
    Morohashi KI, Inoue M, Baba T., Free PMC Article

    09/18/2021
    NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.

    NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
    Laan M, Kasak L, Timinskas K, Grigorova M, Venclovas Č, Renaux A, Lenaerts T, Punab M.

    08/14/2021
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