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Article

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

26 May 2009

Abstract excerpt

The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in patients with campomelic dysplasia (CD). Translocations upstream of the coding sequence suggested that altered expression of SOX9 was capable of severely impacting on skeletal development. Subsequent studies in humans and animal models pointed towards a complex...

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Identifiers

PMID: 19473998
DOI: 10.1136/jmg.2009.068361

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-range regulation at the <i>SOX9</i> locus in development and disease: Figure 1PMID 19473998Read ↗

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

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

Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder.Semantic proximity Read ↗

Structural and Functional Characterization of the Mouse Sox9 Promoter: Implications for Campomelic DysplasiaSemantic proximity Read ↗

Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Semantic proximity Read ↗

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex developmentSemantic proximity Read ↗

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

Understanding the role of SOX9 in acquired diseases: lessons from developmentSemantic proximity Read ↗

Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)Semantic proximity Read ↗

Two novel translocation breakpoints upstream of <i>SOX9</i> define borders of the proximal and distal breakpoint cluster region in campomelic dysplasiaSemantic proximity Read ↗

Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position EffectSemantic proximity Read ↗

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

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