Associated Papers
Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.
Badowski C et al.
Scientific Reports, 2024
Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.
Cianci V et al.
International Journal of Molecular Sciences, 2024
Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.
Mohammed F et al.
International Journal of Molecular Sciences, 2022
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy.
Favre B et al.
Circulation. Genomic and Precision Medicine, 2018
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Harrison SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28301460 (PubMed )
Supplement: NIHMS853375-supplement-Supplemental_Table_4__Consensus_classifications_for_all_211_resolved_variants.xlsx › Supplemental_Table_4
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
Zhao Q et al.
International Journal of Legal Medicine, 2016
Structure of the Intermediate Filament-Binding Region of Desmoplakin.
Kang H et al.
Plos One, 2016
Identification of arrhythmogenic right ventricular cardiomyopathy-causing gene mutations in young sudden unexpected death autopsy cases.
Sato T et al.
Journal of Forensic Sciences, 2015
Arrhythmogenic right ventricular dysplasia: clinical characteristics and identification of novel desmosome gene mutations.
Yu CC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008
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