Associated Papers
A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China.
Lei X et al.
Biology of Sex Differences, 2026
An evaluation of cases of disorders of sex development related to SRD5A2.
Celiloglu C et al.
Endocrine, 2025
Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing.
Uehara E et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.
Naamneh Elzenaty R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects.
Ramos L
Plos One, 2025
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 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
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.
Zhang W et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2023
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
The association between missense polymorphisms in SRD5A2 and HSD3B1 and treatment failure with abiraterone for castration-resistant prostate cancer.
Shiota M et al.
The Pharmacogenomics Journal, 2021
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
Mazen I et al.
American Journal of Medical Genetics. Part A, 2021
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male.
Dalili S et al.
Clinical Case Reports, 2020
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
Avendaño A et al.
Annals of Human Genetics, 2020
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B et al.
Journal of Medical Genetics, 2019
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.
Schafer ST et al.
Nature Neuroscience, 2019
Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.
Lin CY et al.
Scientific Reports, 2018
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
Disciglio V et al.
Chinese Journal of Cancer, 2016
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
Eren E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
Fu XH et al.
Genetics and Molecular Research : Gmr, 2016
Single-nucleotide polymorphism in the 5-α-reductase gene (SRD5A2) is associated with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer survivors.
Boer H et al.
European Journal of Cancer (oxford, England : 1990), 2016
Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
Cheng J et al.
Clinical Endocrinology, 2015
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
The association of 5-alpha reductase type 2 (SRD5A2) gene polymorphisms with prostate cancer in a Korean population.
Choi SY et al.
Korean Journal of Urology, 2015
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Associations between polymorphisms in sex steroid related genes and autistic-like traits.
Zettergren A et al.
Psychoneuroendocrinology, 2013
Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.
Wakai K et al.
Journal of Epidemiology, 2011
SNPs associated with prostate cancer risk and prognosis.
Naylor SL
Frontiers in Bioscience : a Journal and Virtual Library, 2007