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anti-Mouse (Murine) EVC Antikörper:
anti-Human EVC Antikörper:
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Human Polyclonal EVC Primary Antibody für 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 (zeige SHH Antikörper) activates Smo by inducing its phosphorylation, which recruits Evc/Evc2 (zeige EVC2 Antikörper) to activate Gli (zeige GLI1 Antikörper) proteins by antagonizing Sufu (zeige SUFUH Antikörper) 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 (zeige EVC2 Antikörper) at the basal body and cilia membrane is co-dependent. In addition, Evc2 (zeige EVC2 Antikörper), but not Evc, is present in the cell nucleus suggesting movement of Evc2 (zeige EVC2 Antikörper) 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 (zeige SHH Antikörper) signal transduction in NIH 3T3 cells in keeping with its dominant effect.
Evc is an intracellular component of the hedgehog (zeige SHH Antikörper) signal transduction pathway that is required for normal transcriptional activation of Ihh (zeige IHH Antikörper) target genes.
EVC and LBN (zeige EVC2 Antikörper) protein colocalize at the tip of the primary atrial septum during murine cardiac development.
we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 (zeige EVC2 Antikörper) 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 (zeige EVC2 Antikörper) gene and 15 bp duplication in exon 14 of the EVC gene in the two families.
Sequencing of both EVC and EVC2 (zeige EVC2 Antikörper) 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 (zeige SHH Antikörper) activation.
Molecular analysis of the EVC and EVC2 (zeige EVC2 Antikörper) 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 (zeige CRMP1 Antikörper) and EVC genes are located near WFS1 (zeige WFS1 Antikörper), the Wolfram syndrome type 1 gene.
In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected
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