Associated Papers
DHX37 variants in patients with 46,XY disorders or differences of sex development.
Katoh-Fukui Y et al.
Human Genome Variation, 2025
Genetic Testing and Immunotherapy for Intracranial Inflammatory Myofibroblastic Tumor: A Case Report.
Meng X et al.
Oncotargets and Therapy, 2022
Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia.
Qiao X et al.
Frontiers in Pediatrics, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM19_ESM.xlsx › Supplementary_Data_16
The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism.
Haseeb A et al.
Nucleic Acids Research, 2019
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
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.
Katoh-Fukui Y et al.
Molecular Genetics & Genomic Medicine, 2015
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