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Article

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

Human molecular genetics - 15 Jun 2003

Sock Elisabeth, Pagon Roberta A, Keymolen Kathelijn, Lissens Willy, Wegner Michael, Scherer Gerd

Abstract excerpt

Campomelic dysplasia (CD) is a semilethal osteochondrodysplasia, characterized by skeletal anomalies that include bending of the long bones, and by XY sex reversal. CD results from haploinsufficiency for the transcription factor SOX9, a key regulator at various steps of cartilage differentiation and of early testis development. Two functional domains are so far recognized for SOX9, a high-mobility group (HMG)...

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Topics

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Share to Chondrogenesis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12783851
DOI: 10.1093/hmg/ddg158

Genes

SOX9
SOX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.PMID 12783851Read ↗

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.Semantic proximity Read ↗

Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.Semantic proximity Read ↗

Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.Semantic proximity Read ↗

Sex reversal by loss of the C-terminal transactivation domain of human SOX9.Semantic proximity Read ↗

A Campomelic Dysplasia A76E Mutation in Sox9 Destabilizes Protein and DNA Binding Dynamics.Semantic proximity Read ↗

The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template.Semantic proximity Read ↗

Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasiaSemantic proximity Read ↗

Genetic study of SOX9 in a case of campomelic dysplasia.Semantic proximity Read ↗

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX 9Semantic proximity Read ↗

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosisSemantic proximity Read ↗

Identification of SOX9 Interaction Sites in the Genome of ChondrocytesSemantic proximity Read ↗

A novel mutation (296 del G) of the SOX90 gene in a patient with campomelic syndrome and sex reversal.Semantic proximity Read ↗

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