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PKP2 gene

Known as: PKP2, PLAKOPHILIN 2 
National Institutes of Health

Papers overview

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2016
2016
Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.
In this study, the genotype-phenotype correlations in four unrelated families with a PKP2 c.2146-1G>C gene variant were studied… 
2015
2015
RhoA activity increased in myocardium of arrhythmogenic cardiomyopathy patients and affected connexin 43 protein expression in HL-1 cells.
Arrhythmogenic cardiomyopathy (AC) is a familial heart muscle disease with mutations of desmosomal gene and its pathogenesis is… 
2015
2015
0247 : Detection and prevalence of large PKP2 deletion in arrhythmogenic right ventricular cardiomyopathy using exome sequencing, qPCR and multiplex ligation-dependent probe amplification (MLPA®)
2014
2014
Effects of Four Gene Polymorphisms related to Fertility on Milk Production and Calving Ability in Japanese Holsteins
We investigated the association between the gene polymorphisms on PKP2, CTTNBP2NL, SETD6 and CACNB2 and fertility, milk… 
2012
2012
PHENOTYPE DIFFERENCE BETWEEN GENOTYPE OF PLAKOPHILIN-2 MUTATION AND DESMOGLEIN-2 MUTATION IN SYMPTOMATIC CHINESE PATIENTS WITH ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA/CARDIOMYOPATHY-A REPORT FROM…
Objectives Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy (ARVD/C) is an inherited heart muscle disease associated… 
2011
2011
Expression of Plakophilins ( PKP 1 , PKP 2 , and PKP 3 ) in Gastric Cancers
Background: The importance of cell-cell junction proteins (including armadillo proteins) in tumor biology is known, but limited… 
2010
2010
077 Desmosomal genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Spectrum of mutations and impact on genetic analyses in practice
2007
2007
Kardiale Phänotypisierung einer Plakophilin 4 transgenen Gene Trap Mauslinie
Titelblatt Inhaltsverzeichnis Einleitung Grundlagen Material und Methoden Ergebnisse Diskussion Anhang 
2006
2006
Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by dilatation and akinesis of the right… 
2000
2000
Assignment1 of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization
Supported by the Geconcerteerde Onderzoeksactie, the Fund for Scientific Research– Flanders, and the ASLK Verzekeringen, Belgium… 
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