نتایج جستجو برای: evc2 gene
تعداد نتایج: 1141385 فیلتر نتایج به سال:
Ellis-van Creveld (EvC) syndrome (OMIM 225500) is an autosomal recessive disease characterized with chondrodysplastic dwarfism in association with abnormalities in oral cavity. Ciliary proteins EVC and EVC2 have been identified as causative genes and they play an important role on Hedgehog signal transduction. We have also identified a causative gene LIMBIN for bovine chondrodysplastic dwarfism...
Ellis-van Creveld (EvC) syndrome is a genetic disorder with mutations in either EVC or EVC2 gene. Previous case studies reported that EvC patients underwent orthodontic treatment, suggesting the presence of craniofacial bone phenotypes. To investigate whether a mutation in EVC2 gene causes a craniofacial bone phenotype, Evc2 knockout (KO) mice were generated and cephalometric analysis was perfo...
We have developed anti-Evc2 antibodies and show that Evc2 and Evc co-localise at the basal body and also in primary cilia. In transfected cells, basal body and cilia localisation are only observed when Evc and Evc2 constructs are co-transfected but do not occur when either construct is transfected individually indicating that this localisation is co-dependent. Although Evc localises to cilia it...
We have developed anti-Evc2 antibodies and show that Evc2 and Evc co-localise at the basal body and also in primary cilia. In transfected cells, basal body and cilia localisation are only observed when Evc and Evc2 constructs are co-transfected but do not occur when either construct is transfected individually indicating that this localisation is co-dependent. Although Evc localises to cilia it...
ellis-van creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects. we describe a 22-year-old boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multipl...
Vertebrate Hedgehog (Hh) signaling is initiated at primary cilia by the ligand-triggered accumulation of Smoothened (Smo) in the ciliary membrane. The underlying biochemical mechanisms remain unknown. We find that Hh agonists promote the association between Smo and Evc2, a ciliary protein that is defective in two human ciliopathies. The formation of the Smo-Evc2 complex is under strict spatial ...
We have developed anti-Evc2 antibodies and show that Evc2 and Evc co-localise at the basal body and also in primary cilia. In transfected cells, basal body and cilia localisation are only observed when Evc and Evc2 constructs are co-transfected but do not occur when either construct is transfected individually indicating that this localisation is co-dependent. Although Evc localises to cilia it...
Ellis-van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss-of-func...
During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygos...
Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still lit...
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