Associated Papers
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
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.
Cheng Y et al.
Molecular Medicine Reports, 2022
[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
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Mazen I et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
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
Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.
Loke J et al.
Clinical Genetics, 2012
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