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
Citations
Cites
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Cited by
The primary cilium: a signalling centre during vertebrate development
Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824
Ciliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Primary Cilia and Mammalian Hedgehog Signaling
Bangs, F., & Anderson, K. V. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028175 · Cited by 642
Motile and non-motile cilia in human pathology: From function to phenotypes
Mitchison, H. M., & Valente, E. M. (2017) · The Journal of Pathology · doi:10.1002/path.4843 · Cited by 448
Ectodermal dysplasias: Clinical and molecular review
Visinoni, Á. F., Lisboa‐Costa, T., Pagnan, N. A. B., & Chautard‐Freire‐Maia, E. A. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32864 · Cited by 181
A Smoothened-Evc2 Complex Transduces the Hedgehog Signal at Primary Cilia
Dorn, K. V., Hughes, C. E., & Rohatgi, R. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.07.004 · Cited by 174
Cilia and coordination of signaling networks during heart development
Koefoed, K., Veland, I. R., Pedersen, L. B., Larsen, L. A., & Christensen, S. T. (2014) · Organogenesis · doi:10.4161/org.27483 · Cited by 84
Caparrós-Martín, J. A., De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G. A., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J.-L., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv152 · Cited by 57
Self-citationThe Role of Ellis‐Van Creveld 2(EVC2) in Mice During Cranial Bone Development
Kwon, E. K., Louie, K., Kulkarni, A., Yatabe, M., Ruellas, A. C. D. O., Snider, T. N., Mochida, Y., Cevidanes, L. H. S., Mishina, Y., & Zhang, H. (2018) · The Anatomical Record · doi:10.1002/ar.23692 · Cited by 17
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot
Palomino Doza, J., Topf, A., Bentham, J., Bhattacharya, S., Cosgrove, C., Brook, J. D., Granados-Riveron, J., Bu’Lock, F. A., O’Sullivan, J., Stuart, A. G., et al. (2013) · BMC Genetics · doi:10.1186/1471-2156-14-57 · Cited by 14
Self-citation
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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