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anti-Mouse (Murine) EVC Antibodies:
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Human Polyclonal EVC Primary Antibody for ICC, IF - ABIN4307758
Takahashi, Yamagishi, Nakano, Yamochi, Yamochi, Fujikawa, Nakashima, Tanaka, Uchimaru, Utsunomiya, Watanabe: Epigenetic deregulation of Ellis Van Creveld confers robust Hedgehog signaling in adult T-cell leukemia. in Cancer science 2014
it is proposed that Hedgehog (show SHH Antibodies) activates Smo by inducing its phosphorylation, which recruits Evc/Evc2 (show EVC2 Antibodies) to activate Gli (show GLI1 Antibodies) proteins by antagonizing Sufu (show SUFUH Antibodies) in the primary cilia
Data show that Evc promotes chondrocyte proliferation, chondrocyte hypertrophy and the differentiation of osteoblasts in the perichondrium and reveal that Evc is essential for intrasphenoidal synchondrosis development.
the presence of Evc and Evc2 (show EVC2 Antibodies) at the basal body and cilia membrane is co-dependent. In addition, Evc2 (show EVC2 Antibodies), but not Evc, is present in the cell nucleus suggesting movement of Evc2 (show EVC2 Antibodies) between the cilium and nucleus.
The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome mutation, impairs Hedgehog (show SHH Antibodies) signal transduction in NIH 3T3 cells in keeping with its dominant effect.
Evc is an intracellular component of the hedgehog (show SHH Antibodies) signal transduction pathway that is required for normal transcriptional activation of Ihh (show IHH Antibodies) target genes.
EVC and LBN (show EVC2 Antibodies) protein colocalize at the tip of the primary atrial septum during murine cardiac development.
Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon.
we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 (show EVC2 Antibodies) in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders.
sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 (show EVC2 Antibodies) gene and 15 bp duplication in exon 14 of the EVC gene in the two families.
Sequencing of both EVC and EVC2 (show EVC2 Antibodies) identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC, which were inherited from mother and father, respectively.
The epigenetically deregulated EVC appears to play an important role for hedgehog (show SHH Antibodies) activation.
Molecular analysis of the EVC and EVC2 (show EVC2 Antibodies) genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene
STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations.
CRMP1 (show CRMP1 Antibodies) and EVC genes are located near WFS1 (show WFS1 Antibodies), the Wolfram syndrome type 1 gene.
This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis.
Ellis van Creveld syndrome
, Ellis van Creveld protein-like
, Ellis van Creveld syndrome protein
, Ellis van Creveld gene homolog
, EvC protein (Ellis-van Creveld syndrome)
, ellis-van Creveld syndrome protein homolog
, ellis-van Creveld syndrome protein