Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje ET et al.
Circulation. Genomic and Precision Medicine, 2023
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Vermeer MCSC et al.
Experimental Dermatology, 2022
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.
Sato T et al.
Internal Medicine (tokyo, Japan), 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.
Sun Y et al.
Frontiers in Cardiovascular Medicine, 2021
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.
Dai G et al.
Pediatric Cardiology, 2019
Novel gene mutation identified in a patient with arrhythmogenic ventricular cardiomyopathy.
Docekal JW et al.
Heartrhythm Case Reports, 2017
Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).
Finsterer J et al.
Molecular Genetics and Metabolism Reports, 2016
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature.
Baykan A et al.
Anatolian Journal of Cardiology, 2015
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
Rasmussen TB et al.
Clinical Genetics, 2013
The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
Cabral RM et al.
Journal of Cell Science, 2012
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.
Williams T et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2011
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
Al-Owain M et al.
Clinical Genetics, 2011
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.
Hobbs RP et al.
The Journal of Investigative Dermatology, 2010
Identification and characterization of DSPIa, a novel isoform of human desmoplakin.
Cabral RM et al.
Cell and Tissue Research, 2010
Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.
Asimaki A et al.
Journal of Cutaneous Pathology, 2009
Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
Tanaka A et al.
The British Journal of Dermatology, 2009
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
Asimaki A et al.
American Journal of Human Genetics, 2007
Review on the genetics of arrhythmogenic right ventricular dysplasia.
Moric-Janiszewska E et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2007
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
Uzumcu A et al.
Journal of Medical Genetics, 2006