Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 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
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
Ostrer H
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Genetic Control of MAP3K1 in Eye Development and Sex Differentiation.
Wang J et al.
Cells, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Human sex-determination and disorders of sex-development (DSD).
Bashamboo A et al.
Seminars in Cell & Developmental Biology, 2015
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 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