Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis
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Arrhythmogenic cardiomyopathyDesmosome regulation and signaling in diseaseThe ARVD/C genetic variants database: 2014 updateMultiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs.Comparison of cellular location and expression of Plakophilin-2 in epidermal cells from nonlesional atopic skin and healthy skin in German shepherd dogsCell models of arrhythmogenic cardiomyopathy: advances and opportunities.Genetic and epigenetic regulation of arrhythmogenic cardiomyopathy.MicroRNA-130a Regulation of Desmocollin 2 in a Novel Model of Arrhythmogenic Cardiomyopathy.Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families.Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model.
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P2860
Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis
description
scientific article published on 04 April 2014
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wetenschappelijk artikel
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наукова стаття, опублікована в червні 2014
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name
Truncating Plakophilin-2 Mutat ...... Both Myocardium and Epidermis
@en
Truncating Plakophilin-2 Mutat ...... Both Myocardium and Epidermis
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type
label
Truncating Plakophilin-2 Mutat ...... Both Myocardium and Epidermis
@en
Truncating Plakophilin-2 Mutat ...... Both Myocardium and Epidermis
@nl
prefLabel
Truncating Plakophilin-2 Mutat ...... Both Myocardium and Epidermis
@en
Truncating Plakophilin-2 Mutat ...... Both Myocardium and Epidermis
@nl
P2093
P50
P1476
Truncating plakophilin-2 mutat ...... both myocardium and epidermis
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Henning Mølgaard
Henrik K Jensen
Katja Gehmlich
Lene Heickendorff
Peter H Nissen
Søren Dalager
Torsten B Rasmussen
Uffe B Jensen
Ulrik T Baandrup
P304
P356
10.1161/CIRCGENETICS.113.000338
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2014-04-04T00:00:00Z