Associated Papers
Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.
Li K et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
41168986 (PubMed )
Supplement: ADVS-13-e15512-s002.pdf
A novel variant in the MAP3K1 genomic locus reveals abnormal cell apoptosis as a potential pathogenic mechanism in 46, XY disorders of sex development.
Lu Y et al.
Molecular Medicine Reports, 2025
Genetic Control of MAP3K1 in Eye Development and Sex Differentiation.
Wang J et al.
Cells, 2021
[Gonadal dysgenesis 46,XY DSD associated with variants in the MAP3K1 gene].
Kalinchenko NY et al.
Problemy Endokrinologii, 2020
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Al Shamsi A et al.
Molecular Genetics & Genomic Medicine, 2020
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Chamberlin A et al.
Human Molecular Genetics, 2019
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Granados A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Human sex-determination and disorders of sex-development (DSD).
Bashamboo A et al.
Seminars in Cell & Developmental Biology, 2015
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.
Loke J et al.
Human Molecular Genetics, 2014
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
Pearlman A et al.
American Journal of Human Genetics, 2010
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