anti-Ellis Van Creveld Syndrome 2 (EVC2) Antikörper

anti-Ellis Van Creveld Syndrome 2 Antikörper (EVC2)
Auf finden Sie aktuell 30 Ellis Van Creveld Syndrome 2 (EVC2) Antikörper von 11 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen Ellis Van Creveld Syndrome 2 Proteine (7) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 38 Ellis Van Creveld Syndrome 2 Produkte verfügbar.
1110017L09Rik, EVC2, Lbn, limbin
Alle Antikörper anzeigen Gen GeneID UniProt
EVC2 132884 Q86UK5
EVC2 68525 Q8K1G2

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Am meisten referenzierte anti-Ellis Van Creveld Syndrome 2 Antikörper

  1. Human Polyclonal EVC2 Primary Antibody für IHC (p), IHC - ABIN249843 : Takeda, Takami, Oguni, Tsuji, Yoneda, Sato, Ihara, Itoh, Kata, Mishina, Womack, Moritomo, Sugimoto, Kunieda: Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. in Proceedings of the National Academy of Sciences of the United States of America 2002 (PubMed)

Weitere Antikörper gegen Ellis Van Creveld Syndrome 2 Interaktionspartner

Human Ellis Van Creveld Syndrome 2 (EVC2) Interaktionspartner

  1. we detected two novel nonsense mutations and a partial deletion of EVC (zeige EVC Antikörper)/EVC2 in two Vietnamese families with EvC (zeige EVC Antikörper). Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC (zeige EVC Antikörper) and its related disorders.

  2. sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC (zeige EVC Antikörper) gene in the two families..

  3. Sequencing of both EVC (zeige EVC Antikörper) and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC (zeige EVC Antikörper), which were inherited from mother and father, respectively.

  4. Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS (zeige MKS1 Antikörper) disease genes-C5orf42 (zeige C5ORF42 Antikörper), EVC2 and SEC8 (zeige EXOC4 Antikörper) (also known as EXOC4 (zeige EXOC4 Antikörper)), which encodes an exocyst protein with an established role in ciliogenesis

  5. we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel.

  6. Identification of a novel genotype in EvC (zeige EVC Antikörper) will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC (zeige EVC Antikörper) but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling

  7. Emerging molecular and developmental studies suggest that EVC (zeige EVC Antikörper) and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes.

  8. 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

  9. Molecular analysis of the EVC (zeige EVC Antikörper) and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.

  10. STK32b, EVC (zeige EVC Antikörper) and EVC2 genes yielded suggestive evidence for linkage and disepuilibrium among cleft palate trios.

Mouse (Murine) Ellis Van Creveld Syndrome 2 (EVC2) Interaktionspartner

  1. Mutations in Evc2 affect dental mesenchymal stem cell homeostasis, which further leads to hypomorphic enamel formation in mice.

  2. Elevation of FGF signaling, mainly due to increased Fgf18 (zeige FGF18 Antikörper) expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 (zeige FGF18 Antikörper) in the Evc2 mutant mice

  3. This study identifies the types of Evc2-expressing cells in craniofacial tissues. Consistent with the expression pattern, abnormal craniofacial bone morphology was found in the Evc2 KO mice, suggesting that EVC2 may be important during craniofacial growth and development.

  4. data reveal that the Hh pathway involves Evc (zeige EVC Antikörper)/Evc2-dependent modulations that are necessary for normal endochondral bone formation

  5. it is proposed that Hedgehog (zeige SHH Antikörper) activates Smo by inducing its phosphorylation, which recruits Evc (zeige EVC Antikörper)/Evc2 to activate Gli (zeige GLI1 Antikörper) proteins by antagonizing Sufu (zeige SUFUH Antikörper) in the primary cilia

  6. Mutant Evc2 proteins that localize in cilia but are displaced from the EvC (zeige EVC Antikörper) zone are dominant inhibitors of Hh signaling.

  7. 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.

  8. The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome (zeige EVC Antikörper) mutation, impairs Hedgehog (zeige SHH Antikörper) signal transduction in NIH 3T3 cells in keeping with its dominant effect.

  9. EVC (zeige EVC Antikörper) and LBN protein colocalize at the tip of the primary atrial septum during murine cardiac development.

Cow (Bovine) Ellis Van Creveld Syndrome 2 (EVC2) Interaktionspartner

  1. The presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals.

Ellis Van Creveld Syndrome 2 (EVC2) Antigen-Profil

Beschreibung des Gens

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.

Alternative names and synonyms associated with Ellis Van Creveld Syndrome 2 (EVC2)

  • Ellis van Creveld syndrome 2 (EVC2) Antikörper
  • Ellis van Creveld syndrome 2 (Evc2) Antikörper
  • 1110017L09Rik Antikörper
  • EVC2 Antikörper
  • Lbn Antikörper
  • limbin Antikörper

Bezeichner auf Proteinebene für EVC2

Ellis van Creveld syndrome 2 , limbin , Ellis van Creveld syndrome 2 (limbin) , limbin-like , ellis-van Creveld syndrome protein 2 , Ellis van Creveld syndrome 2 homolog

461676 Pan troglodytes
611156 Canis lupus familiaris
722758 Macaca mulatta
100436741 Pongo abelii
100604511 Nomascus leucogenys
132884 Homo sapiens
68525 Mus musculus
280834 Bos taurus
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