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
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
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
The Diagnostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy: Novel ECG Signs.
Calò L et al.
Jacc. Clinical Electrophysiology, 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
36580316 (PubMed )
Supplement: EMS158320-supplement-Supplemental_Tables.xlsx › Table_SII
A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.
Zhao XJ et al.
Clinical, Cosmetic and Investigational Dermatology, 2023
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Martone S et al.
Frontiers in Genetics, 2022
Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.
Sun Y et al.
Frontiers in Cardiovascular Medicine, 2021
37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1
Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations.
Dowd M et al.
Pediatric Dermatology, 2019
Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.
Bari O et al.
Pediatric Dermatology, 2018
Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Wada Y et al.
Molecular Genetics & Genomic Medicine, 2017
29178656 (PubMed )
Supplement: MGG3-5-639-s001.docx
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
Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy.
Sommariva E et al.
European Heart Journal, 2016
Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.
Antonov NK et al.
Pediatric Dermatology, 0
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