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VE-cadherin and the armadillo family protein plakoglobin regulate vascular endothelial permeability and growth.
5% DSC2 Desmocollin 2 <2% JUP Junction plakoglobin N/A LQTS KCNQ1 Potassium voltage-gated 40%-55% channel subfamily Q member 1 KCNH2 Potassium voltage-gated 35%-45% channel subfamily H member 2 SCN5A Sodium voltage-gated 2%-8% channel alpha subunit 5 Brugada SCN5A Sodium voltage-gated channel alpha subunit 5 CPVT RYR2 Ryanodine receptor 2 50% (cardiac) CASQ2 Calsequestrin 2 (cardiac N/A muscle) TRDN Triadin N/A CALM1 Calmodulin 1 (phosphorylase N/A kinase, delta) KCNJ2 Potassium voltage-gated N/A channel subfamily J member 2 FH LDLR Low density lipoprotein 70%-80% receptor APOB Apolipoprotein B 2%-7% PCSK9 Proprotein convertase <1% subtilisin/ kexin type 9 ICC Gene References HCM MYBPC3 Alfares et al.
26-29) Reduced plakoglobin in desmosomes has been reported and proposed as a possible clinical test and is particularly appealing as it may highlight a defect in otherwise apparently normal tissue.
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
The plakoglobin, desmoplakin and desmocollin-2 are family members of desmosomal proteins that function as cell-cell adhesion junction, and are expressed in skin, heart and hair.
Experiments have shown that incubation of cardiac fibroblasts in presence or absence of exogenous TGF[beta]3 revealed increased expression of plakoglobin gene (45) and overexpression of TGF[beta]3, caused by UTR mutations which might affect cell-to-cell junction stability leading to a final outcome as observed in ARVD/C which is caused by mutations in desmosomal genes.
The vertebrate adhesive junction proteins-catenin and plakoglobin and the Drosophila segment polarity gene armadillo form a multigene family with similar properties.
They went on to demonstrate that overexpression of DSP led to increased plakoglobin ([gamma]-catenin).
In desmosomes, two classes of desmosomal cadherins, the desmogleins and desmocollins, bind to the [Beta]-catenin-related protein called plakoglobin.
52) A major role of catenins (including [alpha]-catenin, [beta]-catenin, plakoglobin, and p120 catenin) is to anchor the E-cadherin complex to the actin cytoskeleton.
They are calcium-dependent adhesion molecules that belong to the cadherin superfamily and link to CK filaments via desmoplakins and plakoglobin.
Expression of E-cadherin, alpha-catenin, beta-catenin and plakoglobin in esophageal carcinomas and its prognostic significance: immunohistochemical analysis of 96 lesions.
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