Associated Papers
In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene.
Shadhin MST et al.
Scientific Reports, 2025
In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Ramgir SS et al.
Journal of Obstetrics and Gynaecology of India, 2024
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.
Calvache CA et al.
Frontiers in Pediatrics, 2022
Significant Associations of SOX9 Gene Polymorphism and Gene Expression with the Risk of Osteonecrosis of the Femoral Head in a Han Population in Northern China.
Song Y et al.
Biomed Research International, 2016
Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.
Chaoui A et al.
Human Molecular Genetics, 2015
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
Mattos EP et al.
Genetics and Molecular Biology, 2015
25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.
Karaer K et al.
Turk Pediatri Arsivi, 2014
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
Boys, girls and shuttling of SRY and SOX9.
Sim H et al.
Trends in Endocrinology and Metabolism: Tem, 2008
The ins and outs of transcriptional control: nucleocytoplasmic shuttling in development and disease.
Smith JM et al.
Trends in Genetics : Tig, 2004
A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal.
Argentaro A et al.
The Journal of Biological Chemistry, 2003
The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].
Harley VR et al.
Endocrine Reviews, 2003
Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Bernard P et al.
Human Molecular Genetics, 2003
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
Preiss S et al.
The Journal of Biological Chemistry, 2001
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