Associated Papers
Hedgehog Signalling in Osteogenesis and Bone Metabolism: Molecular Mechanisms, Regulatory Networks and Implications for Skeletal Disease.
Njie R et al.
Journal of Cellular and Molecular Medicine, 2025
Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Wang L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia.
Au TYK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms.
Szeto IYY et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi F et al.
Human Mutation, 2019
Contribution of allelic imbalance to colorectal cancer.
Palin K et al.
Nature Communications, 2018
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
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Chen R et al.
Nature Biotechnology, 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
A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
Matsushita M et al.
American Journal of Medical Genetics. Part A, 2013
Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.
Sasaki K et al.
Gene, 2013
Sex-reversed acampomelic campomelic dysplasia with a homozygous deletion mutation in SOX9 gene.
Chen SY et al.
Urology, 2012
Gene conversion: mechanisms, evolution and human disease.
Chen JM et al.
Nature Reviews. Genetics, 2007
Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father.
Smyk M et al.
American Journal of Medical Genetics. Part A, 2007
UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man.
Rohozinski J et al.
Biology of Reproduction, 2006
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.
Pop R et al.
Human Genetics, 2005
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
Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene.
Jakubiczka S et al.
Clinical Dysmorphology, 2001
A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.
Ninomiya S et al.
Clinical Genetics, 2000
Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.
Pfeifer D et al.
American Journal of Human Genetics, 1999
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Meyer J et al.
Human Molecular Genetics, 1997
Mutations in SRY and SOX9: testis-determining genes.
Cameron FJ et al.
Human Mutation, 1997