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Ellis van Creveld syndrome 2

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] (from NCBI)
Top mentioned proteins: HAD, CAN, CsA, Nail, Smo
Papers on LBN
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
Mizuguchi et al., Tokyo, Japan. In Congenit Anom (kyoto), Feb 2016
To obtain further insight into the genetics of EvC, we screened EVC/EVC2 mutations in 8 Vietnamese EvC patients.
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
Ahmad et al., Islamabad, Pakistan. In Clin Dysmorphol, Jan 2016
It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6 kb of genomic sequence on chromosome 4p16.
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
Ye et al., New York City, United States. In Mol Genet Genomics, Dec 2015
Both disorders can result from loss-of-function mutations in either EVC or EVC2 gene, and phenotypes associated with the two gene mutations are clinically indistinguishable.
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization.
Brunetti et al., Bologna, Italy. In Vet Pathol, Sep 2015
Ellis-van Creveld (EvC) syndrome is a human autosomal recessive disorder caused by a mutation in either the EVC or EVC2 gene, and presents with short limbs, polydactyly, and ectodermal and heart defects.
Generation of Evc2/Limbin global and conditional KO mice and its roles during mineralized tissue formation.
Mishina et al., Liège, Belgium. In Genesis, Aug 2015
We have also identified a causative gene LIMBIN for bovine chondrodysplastic dwarfism (bcd) that is later identified as the bovine ortholog of EVC2.
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.
Ruiz-Perez et al., Madrid, Spain. In Hum Mol Genet, Aug 2015
Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested.
Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome.
Ren et al., Zhengzhou, China. In Dis Model Mech, Jun 2015
Of note, we identified one EVC2 non-synonymous mutation (p.Asp1174Asn) as a potential disease-implicating variant for a human microtia-associated syndrome.
Regulation of Endothelin-1-Induced Trabecular Meshwork Cell Contractility by Latanoprostene Bunod.
Richardson et al., In Invest Ophthalmol Vis Sci, Jun 2015
PURPOSE: Previous in vivo studies demonstrated that latanoprostene bunod (LBN), a nitric oxide (NO)-donating prostaglandin F2α receptor agonist, results in greater intraocular pressure (IOP) lowering than latanoprost.
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families.
Farra et al., Madrid, Spain. In Case Rep Genet, 2014
EVC syndrome has been linked to mutations in EVC and EVC2 genes.
Factors affecting life cycle assessment of milk produced on 6 Mediterranean buffalo farms.
Pacelli et al., Cremona, Italy. In J Dairy Sci, 2014
The functional unit was 1 kg of normalized buffalo milk (LBN), with a reference milk fat and protein content of 8.3 and 4.73%, respectively.
Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.
Zhang et al., Beijing, China. In Plos One, 2013
Various human organ developmental genes reside in this 10-Mb susceptibility region, such as EVC, EVC2, SLC2A9, NKX3-2, and HMX1.
Ciliary disorder of the skeleton.
Cormier-Daire et al., Paris, France. In Am J Med Genet C Semin Med Genet, 2012
Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2).
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.
Moller et al., Minneapolis, United States. In Pediatr Cardiol, 2011
Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes.
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
Feng et al., Beijing, China. In Am J Med Genet A, 2011
In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
Wang et al., Taiwan. In Taiwan J Obstet Gynecol, 2010
Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
Goodship et al., Newcastle upon Tyne, United Kingdom. In Bmc Biol, 2010
We demonstrate for the first time that Evc2 is a positive regulator of the Hh signalling pathway and that it is located at the basal body of primary cilia. Evc2 is present in the cell nucleus suggesting movement of Evc2 between the cilium and nucleus.
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
Al-Gazali et al., Al `Ayn, United Arab Emirates. In Bmc Med Genet, 2009
A novel splice site mutation (c.2047-1G>T) in intron 13 of EVC2 gene was found in a family with child diagnosed with Ellis-van Creveld syndrome in the United Arab Emirates.
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
Goodship et al., Madrid, Spain. In Am J Med Genet C Semin Med Genet, 2009
EvC results from loss-of-function mutations in EVC or EVC2, the phenotype associated with the mutations in these two genes being indistinguishable.
Ellis-van Creveld syndrome.
Le Merrer et al., Paris, France. In Orphanet J Rare Dis, 2006
Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative.
[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].
Gille et al., Amsterdam, Netherlands. In Ned Tijdschr Geneeskd, 2005
The syndrome can be caused by mutations in the EVC gene or the EVC2 gene.
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