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Article

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

28 Feb 2011

Abstract excerpt

BACKGROUND: Evc is essential for Indian Hedgehog (Hh) signalling in the cartilage growth plate. The gene encoding Evc2 is in close proximity in divergent orientation to Evc and mutations in both human genes lead to the chondrodysplasia Ellis-van Creveld syndrome. RESULTS: Bioinformatic analysis reveals that the Evc and Evc2 genes arose through a duplication event early in metazoan evolution and were subsequently...

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PMID: 21356043
DOI: 10.1186/1741-7007-9-14

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleusPMID 21356043Read ↗

EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.Semantic proximity Read ↗

Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.Semantic proximity Read ↗

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.Semantic proximity Read ↗

Expression of Evc2 in craniofacial tissues and craniofacial bone defects in Evc2 knockout mouse.Semantic proximity Read ↗

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.Semantic proximity Read ↗

Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.Semantic proximity Read ↗

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.Semantic proximity Read ↗

Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization.Semantic proximity Read ↗

Role of chromatin remodeling gene Cecr2 in neurulation and inner ear development.Semantic proximity Read ↗

Blocking chondrocyte hypertrophy in conditional <i>Evc</i> knockout mice does not modify osteoarthritis progressionSemantic proximity Read ↗

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.Semantic proximity Read ↗

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