Associated Papers
Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.
Jing H et al.
Clinical Genetics, 2026
Gonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development.
Yang H et al.
Hormone Research in Paediatrics, 2025
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.
Kumar S et al.
Annales D'endocrinologie, 2025
Broader impact and outcome of human NR5A1/SF1 variants.
Kouri C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2025
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Xu Y et al.
Orphanet Journal of Rare Diseases, 2024
Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features.
Luppino G et al.
Current Issues in Molecular Biology, 2024
In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Ramgir SS et al.
Journal of Obstetrics and Gynaecology of India, 2024
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z et al.
Frontiers in Endocrinology, 2024
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.
Hattori A et al.
Biomolecules, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.
Barros BA et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Yan YL et al.
Genetics, 2021
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
Askari M et al.
Andrologia, 2020
Dog Steroidogenic Factor-1: Molecular cloning and analysis of epigenetic regulation.
Sekiya A et al.
The Journal of Veterinary Medical Science, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
Knarston IM et al.
Human Mutation, 2019
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
Mekkawy MK et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Adachi M et al.
Endocrine Journal, 2018
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Sreenivasan R et al.
Human Mutation, 2018
Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations.
Song Y et al.
Frontiers in Pharmacology, 2018
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.
França MM et al.
Endocrine, 2017
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.
Bashamboo A et al.
Clinical Genetics, 2017
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
Igarashi M et al.
Human Mutation, 2017
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
Swartz JM et al.
Hormone Research in Paediatrics, 2017
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R et al.
Plos One, 2017
Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.
Takasawa K et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2016
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A et al.
Human Molecular Genetics, 2016
Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
Hussain S et al.
Andrologia, 2016
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
Fabbri HC et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L et al.
American Journal of Medical Genetics. Part A, 2014
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
Fabbri HC et al.
Bmc Medical Genetics, 2014
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.
Malikova J et al.
Plos One, 2014
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Ferraz-de-Souza B et al.
Molecular and Cellular Endocrinology, 2011
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family.
Li H et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2011
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
Soardi FC et al.
Journal of Applied Genetics, 2010