Global ETD Search
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Showing 1 to 5 of 5 for “"plakophilin"”.
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Developmental and Molecular Functions of Plakophilin-3
<p>Plakophilin-3, the less studied member of the plakophilin-catenin subfamily, and the larger catenin family, binds directly to desmosomal cadherin cytoplasmic domains and enhances desmosome formation and stability. In mammals, plakophilin-3 is expressed at the highest levels in desmosome-enriched …
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The prevalence of plakophilin-2 gene (PKP-2) mutations in South African patient with cardiomyopathy
Includes abstract. Includes bibliographical references (leaves 53-58).
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Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
… to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2). We extended investigations of the pathogenic PKP2 c.1162C>T founder mutation which had previously been reported to occur within four 'unrelated' probands (6.2%) who selfidentified as Afrikaners and who also carried a common …
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Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans
… (DCM) in desmosomal protein genes (i.e., plakophilin 2, desmocollin 2, desmoglein 2, and plakoglobin), (2) establish the presence of a founder effect in families with a recurrent mutation in the plakophilin 2 (PKP2) gene, (3) investigate whether single nucleotide polymorphisms found in …
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Zell- und molekularbiologische Charakterisierung neuartiger Zell-Zell-Verbindungsarten in Glioma-Zellen und mesenchymalen Stammzellen
… - dem von Desmosomen her bekannten Protein Plakophilin 2 und den - von "Tight Junctions" bekannten - Plaque-Proteinen ZO-1, ZO-2 und Cingulin komplexiert sind und zusammen mit Afadin und dem Actin-bindenden Protein Vinculin Mikrofilament-Bündel des Actin-Typs verankern. Molekulare …