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 |