The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia
Abstract
EVC is a novel protein mutated in the human chondroectodermal dysplasia Ellis-van Creveld syndrome (EvC; OMIM: 225500). We have inactivated Evc in the mouse and show that Evc-/- mice develop an EvC-like syndrome, including short ribs, short limbs and dental abnormalities. lacZ driven by the Evc promoter revealed that Evc is expressed in the developing bones and the orofacial region. Antibodies developed against Evc locate the protein at the base of the primary cilium. The growth plate of Evc-/- mice shows delayed bone collar formation and advanced maturation of chondrocytes. Indian hedgehog(Ihh) is expressed normally in the growth plates of Evc-/- mice, but expression of the Ihh downstream genes Ptch1 and Gli1 was markedly decreased. Recent studies have shown that Smo localises to primary cilia and that Gli3 processing is defective in intraflagellar transport mutants. In vitro studies using Evc-/- cells demonstrate that the defect lies downstream of Smo. Chondrocyte cilia are present in Evc-/- mice and Gli3 processing appears normal by western blot analysis. We conclude that Evc is an intracellular component of the hedgehog signal transduction pathway that is required for normal transcriptional activation of Ihh target genes.
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“Ellis-van Creveld syndrome (OMIM 225500) may be caused by mutations in the EVC and EVC2 genes that code for an intracellular mediator of the hedgehog transduction signal pathway which is necessary for endochondral growth [Ruiz-Perez et al., 2007].”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Ruiz-Perez et al., 2007
In the citing paper
“Ellis-van Creveld syndrome (OMIM 225500) may be caused by mutations in the EVC and EVC2 genes that code for an intracellular mediator of the hedgehog transduction signal pathway which is necessary for endochondral growth [Ruiz-Perez et al., 2007].”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Ruiz-Perez et al., 2007
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Metadata
- Authors
- Ruiz-Perez, V. L., Blair, H. J., Rodriguez-Andres, M. E., Blanco, M. J., Wilson, A., Liu, Y.-N., Miles, C., Peters, H., & Goodship, J. A.
- Affiliations
- Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
- Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas, Ramiro de Maeztu 9, 28040 Madrid,Spain.
- Department of Human Anatomy and Embryology, Faculty of Medicine, Universidad Complutense de Madrid, 28040 Madrid, Spain.
- Venue
- Development
- Publisher
- The Company of Biologists
- Published
- 2007-08-15
- Volume
- 134
- Issue
- 16
- Pages
- 2903-2912
- ISSN
- 1477-9129
- 0950-1991
- Cited by
- 175
- References
- 48
- Language
- en
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