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Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family.
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Human Monoclonal ARVCF Primary Antibody für IHC (p), ELISA - ABIN559961
Cho, Vaught, Ji, Gu, Papasakelariou-Yared, Horstmann, Jennings, Lee, Sevilla, Kloc, Reynolds, Watt, Brennan, Kowalczyk, McCrea: Xenopus Kazrin interacts with ARVCF-catenin, spectrin and p190B RhoGAP, and modulates RhoA activity and epithelial integrity. in Journal of cell science 2010
Kazrin (zeige KAZ Antikörper) and its associating ARVCF- and delta-catenins, are required to form craniofacial tissues originating from cranial neural crest and precordal plate.
double depletion of ARVCF and Tbx1 revealed that they act cooperatively, indicating that decreased ARVCF levels may also contribute to 22q11.2DS-associated phenotypes.
Kazrin (zeige KAZ Antikörper) interacts with ARVCF-catenin, spectrin and p190B (zeige ARHGAP5 Antikörper) RhoGAP (zeige ARHGAP1 Antikörper), and modulates RhoA (zeige RHOA Antikörper) activity.
Differential expression pattern of protein ARVCF in nephron segments of mouse kidney.
observed ARVCF-dependent changes in small GTPase (zeige RACGAP1 Antikörper) (mainly RhoA (zeige RHOA Antikörper)) activity in lung cancer cells. We confirmed that ARVCF plays an important role in the malignant phenotype
Carriage of the minor allele at rs2518824 in the armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF) gene was associated with white matter abnormality.
Data indicate that armadillo repeat protein ARVCF interacts with the splicing factors the splicing factor (zeige SLU7 Antikörper) SRSF1 (SF2/ASF (zeige SRSF1 Antikörper)), the RNA helicase p68 (DDX5 (zeige DDX5 Antikörper)), and the heterogeneous nuclear ribonucleoprotein (zeige PCBP2 Antikörper) hnRNP H2 (zeige HNRNPH2 Antikörper).
Schizophrenic patients with more copies of the haplotype T-G-A-T-T-G-G-C-T-G-T (ARVCF-Hap1 (zeige APEX1 Antikörper)) have lower white matter integrity in caudate nucleus and greater perseverative errors.
Five SNPs were validated as being significantly associated with prostate cancer mortality, one each in the LEPR (zeige LEPR Antikörper), CRY1 (zeige CRY1 Antikörper), RNASEL (zeige RNASEL Antikörper), IL4 (zeige IL4 Antikörper), and ARVCF genes.
The functional variant rs165815, which affects a critical region of ARVCF, is a considerable source of the genetic variability associated with the risk of developing schizophrenia.
Evidence was found for association of illness to rs165849 in ARVCF, and a stronger signal from three-marker haplotypes spanning the 3' portions of COMT (zeige COMT Antikörper) and ARVCF. Val(108/158)Met was in linkage disequilibrium with the markers in ARVCF.
Interactions with zona occludens-1 (zeige TJP1 Antikörper) and zona occludens-2 (zeige TJP2 Antikörper), in particular, may mediate recruitment of ARVCF to the plasma membrane and the nucleus
Results implicate a very close association of ARVCF with migrating neurons from the ganglionic eminence.
Two haplotypes covering the catechol-O-methyltransferase (zeige COMT Antikörper)-ARVCF region show significant transmission disequilibrium in anorexia nervosa-restricting Israeli-Jewish families
Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein.
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