Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]
, 2020 Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo +5 more
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Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)
Cardiogenetics, 2022 Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years.
Nosheen Reza +7 more
doaj +1 more source
Arrhythmogenic Cardiomyopathy—Further Insight into the Clinical Spectrum of Desmoplakin Disease
Cardiogenetics, 2021 Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led ...
Joanne Simpson +5 more
doaj +1 more source
Pifu-xingbing zhenliaoxue zazhi, 2022 Objective To report a case of genodermatosis featured by skin fragility, alopecia and pachyonychia, and to identify the underlying genetic basis. Methods Clinical information was collected, and peripheral blood was obtained from the patient and his ...
Huijun WANG, Zhimiao LIN
doaj +1 more source
Differentiation-dependent glycosylation of cells in squamous cell epithelia detected by a mammalian lectin [PDF]
, 2002 The squamous stratified epithelia contain a proliferative (harboring mitotic activity) and a differentiating compartment. Due to the potential of protein-carbohyd rate interactions to regulate cellular activities we introduced a mammalian lectin to cyto-
Dvorankova, Barbora +7 more
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Diagnostics, 2020 Mono-allelic dominant mutations in the desmoplakin gene (DSP) have been linked to known cardiac disorders, such as arrhythmogenic right ventricular cardiomyopathy and dilated cardiomyopathy.
Przemysław Chmielewski +9 more
doaj +1 more source
Loss of flotillin expression results in weakened desmosomal adhesion and Pemphigus vulgaris-like localisation of desmoglein-3 in human keratinocytes [PDF]
, 2016 Desmosomes are adhesion plaques that mediate cell-cell adhesion in many tissues, including the epidermis, and generate mechanical resistance to tissues. The extracellular domains of desmosomal cadherin proteins, desmogleins and desmocollins, are required
Ali, Jawahir +7 more
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Desmoplakin Cardiomyopathy: Myocarditis-Like Episodes. [PDF]
CureusWe report a case of a 21-year-old woman who presented with recurrent chest pain over a three-year period, initially attributed to myocarditis. She first presented with elevated troponin levels and myocardial oedema on cardiac magnetic resonance imaging (MRI), consistent with acute myocarditis.
Fatrous T, Ibzea S, Zahir Hussain SH.
europepmc +3 more sources
12-0-Tetradecanoyl phorbol-13-acetate induced differentiation in human lung squamous carcinoma cells. [PDF]
, 1992 Three human lung squamous carcinoma cell lines (NX002, CX140 and CX143) demonstrate features of squamous differentiation including involucrin synthesis and competence to form cornified envelopes.
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Clinical characteristics and risk stratification of desmoplakin cardiomyopathy [PDF]
EP Europace, 2021 AbstractAimsDesmoplakin (DSP) cardiomyopathy is an increasingly recognized form of arrhythmogenic cardiomyopathy. With a genotype-specific approach, we characterized the diagnosis, natural history, and risk for ventricular arrhythmia and heart failure in DSP cardiomyopathy.Methods and resultsWe followed 91 individuals [45 probands, 34% male, median age
Weijia Wang +9 more
openaire +3 more sources