Associated Papers
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants.
Bolling MC et al.
Experimental Dermatology, 2025
A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report.
Lin C et al.
Frontiers in Medicine, 2025
Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association.
Pascolini G et al.
Experimental Dermatology, 2024
Clinical and Genetic Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy Patients: A Single-Center Experience.
Al-Ghamdi BS et al.
Cardiology Research, 2023
Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.
Chua CJ et al.
Genes, 2023
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
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN et al.
Frontiers in Cardiovascular Medicine, 2023
Sinus arrest in a p.Arg160X-DSP-positive patient without evidence of desmoplakin-mediated cardiomyopathy: a case report.
Tan NY et al.
Frontiers in Cardiovascular 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
Diagnostic Challenges in Rare Causes of Arrhythmogenic Cardiomyopathy-The Role of Cardiac MRI.
Manole S et al.
Journal of Personalized Medicine, 2022
Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.
Bliley JM et al.
Science Translational Medicine, 2021
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.
van Wijngaarden AL et al.
Journal of Medical Genetics, 2020
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.
Neubauer J et al.
European Journal of Human Genetics : Ejhg, 2017
Phenotypic expression is a prerequisite for malignant arrhythmic events and sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy.
Zorzi A 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, 2016