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Article

Structural and Functional Characterization of the Mouse Sox9 Promoter: Implications for Campomelic Dysplasia

1 Apr 1999

Abstract excerpt

Mutations in SOX9 cause campomelic dysplasia (CD), a dominant skeletal dysmorphology and XY sex reversal syndrome. The CD phenotype is sensitive to dosage and expression levels of SOX9. Sox9 is expressed during chondrocyte differentiation and is up-regulated in male and down-regulated in female genital ridges during sex differentiation. In order to study the sex- and tissue-specific regulation of Sox9, we have...

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PMID: 10072439
DOI: 10.1093/hmg/8.4.691

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Related research

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Structural and Functional Characterization of the Mouse Sox9 Promoter: Implications for Campomelic DysplasiaPMID 10072439Read ↗

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

Long-range regulation at the <i>SOX9</i> locus in development and disease: Figure 1Semantic proximity Read ↗

SOX9 in organogenesis: shared and unique transcriptional functions.Semantic proximity Read ↗

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.Semantic proximity Read ↗

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

SOX9 and the many facets of its regulation in the chondrocyte lineageSemantic proximity Read ↗

<i>Sox9</i> in Testis DeterminationSemantic proximity Read ↗

Distinct Transcriptional Programs Underlie Sox9 Regulation of the Mammalian ChondrocyteSemantic proximity Read ↗

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

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

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

Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.Semantic proximity Read ↗

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