Associated Papers
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
39854231 (PubMed )
Supplement: pnas.2313978121.sapp.pdf
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
SOX9 has distinct regulatory roles in alternative splicing and transcription.
Girardot M et al.
Nucleic Acids Research, 2018
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
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
Barone C et al.
Congenital Anomalies, 2014
Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester.
Michel-Calemard L et al.
Prenatal Diagnosis, 2004
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
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
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
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