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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Two redundant transcription factor binding sites in a single enhancer are essential for mammalian sex determination.
Ridnik M et al.
Nucleic Acids Research, 2024
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
Phenotype-genotype relationships in Xenopus sox9 crispants provide insights into campomelic dysplasia and vertebrate jaw evolution.
Hossain N et al.
Development, Growth & Differentiation, 2023
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Flavin Adenine Dinucleotide (FAD) and Pyridoxal 5'-Phosphate (PLP) Bind to Sox9 and Alter the Expression of Key Pancreatic Progenitor Transcription Factors.
Islam Z et al.
International Journal of Molecular Sciences, 2022
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.
von Bohlen AE et al.
Molecular Genetics & Genomic Medicine, 2017
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
Preiksaitiene E et al.
American Journal of Medical Genetics. Part A, 2016
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
L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity.
Yamashita S et al.
The Journal of Biological Chemistry, 2012
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
Understanding the role of SOX9 in acquired diseases: lessons from development.
Pritchett J et al.
Trends in Molecular Medicine, 2011
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
Staffler A et al.
Human Mutation, 2010
Sox9 directly promotes Bapx1 gene expression to repress Runx2 in chondrocytes.
Yamashita S et al.
Experimental Cell Research, 2009
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Bondurand N et al.
American Journal of Human Genetics, 2007
A Col9a1 enhancer element activated by two interdependent SOX9 dimers.
Genzer MA et al.
Nucleic Acids Research, 2007
Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Bernard P et al.
Human Molecular Genetics, 2003
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
Sock E et al.
Human Molecular Genetics, 2003