Results 31 to 40 of about 11,754 (266)

Naxos Disease and Related Cardio-Cutaneous Syndromes [PDF]

JACC: Advances
Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin.
Alexandros Protonotarios, MD, Angeliki Asimaki, Ph.D, Cristina Basso, MD, Zafeirenia Xylouri, MD, Emanuele Monda, MD, Ioannis Protonotarios, MD, Giulia Crisci, MD, Dominic JR. Abrahms, MMBS, MD, MBA, Aris Anastasakis, MD, Loizos Antoniades, MD, Athanasios Bakalakos, MD, Andreina Carbone, MD, Aman S. Coonar, MD, Juan Ramon Gimeno, MD, George Lazaros, MD, Stamatis Lerakis, MD, Luisa Mestroni, MD, George Papadopoulos, MD, Leandro Pecchia, MD, Francesca Romana Prandi, MD, Petros Syrris, MD, Julia Cadrin-Turigny, MD, Anargyros Vasilakis, MSc, Jeffrey E. Saffitz, MD, PhD, Stamatios Gaetano Thiene, MD, Perry M. Elliott, MD, Juan Pablo Kaski, MD, William J. McKenna, MD, Eduardo Bossone, MD, Giuseppe Limongelli, MD, Adalena Tsatsopoulou, MD   +30 more
doaj   +2 more sources

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant

ESC Heart Failure, 2020
Myocarditis most often affects otherwise healthy athletes and is one of the leading causes of sudden death in children and young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder with ...
Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson   +10 more
doaj   +2 more sources

FDG PET/CT imaging and circulating biomarkers of inflammation in desmoplakin cardiomyopathy. [PDF]

ESC Heart Fail
Abstract Aims Inflammation has been implicated in the pathogenesis of desmoplakin (DSP) cardiomyopathy, and retrospective studies have described abnormal myocardial fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) findings in symptomatic patients eventually diagnosed with DSP cardiomyopathy.
Divakaran S, Randhawa V, Tahir UA, Robertson M, Waheed AA, Perillo A, Barrett L, Blankstein R, Feinberg MW, Di Carli MF, Lakdawala NK.   +10 more
europepmc   +2 more sources

Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion [PDF]

Journal of Clinical Medicine, 2021
Genetic variants that result in truncation in desmoplakin (DSP) are a known cause of arrhythmogenic cardiomyopathy (AC). In homozygous carriers, the combined involvement of skin and heart muscle is well defined, however, this is not the case in ...
Eva Cabrera‐Borrego, Trinidad Montero‐Vílchez, Francisco Bermúdez-Jiménez, Jesús Tercedor‐Sánchez, Luis Tercedor‐Sánchez, Manuel Sánchez‐Díaz, Rosa Macías‐Ruiz, María Molina-Jiménez, Francisco Javier Cañizares Garcia, Eduardo Fernández-Segura, Angel Fernández‐Flores, Salvador Arias‐Santiago, Juan Jiménez‐Jáimez   +12 more
openalex   +2 more sources

High-pressure freezing of mechanically stretched cells. [PDF]

J Microsc
Abstract High‐pressure freezing (HPF) is an electron microscopy (EM) preparation technique with superb ultrastructural preservation. Combined with EM tomography it provides virtual EM serial sections with extraordinary spatial resolution. For HPF, cells are usually cultured on a rigid sapphire disc that provides a tight fit in the holding bracket of ...
Felder E, Rüth JL, Abu-Omar B, Wohlwend M, Walther P, Read C.   +5 more
europepmc   +2 more sources

Human autoantibodies against desmoplakins in paraneoplastic pemphigus. [PDF]

Journal of Clinical Investigation, 1992
Recently, a previously unrecognized autoantibody mediated blistering disease, paraneoplastic pemphigus has been described. Paraneoplastic pemphigus is associated with lymphoid malignancies, thymomas, and poorly differentiated sarcomas. Serum of affected patients contain pathogenic autoantibodies that immunoprecipitate from normal keratinocytes a ...
J R Oursler, Ramzy S Labib, L Ariss-Abdo, T Burke, E J O'Keefe, Grant J. Anhalt   +5 more
openalex   +3 more sources

A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy. [PDF]

JACC Case Rep
Giannoni A, Modena M, Montuoro S, Bonanni F, Grigoratos C, Barison A, Todiere G, Rossi A, Vittorini S, Emdin M, Botto N.   +10 more
europepmc   +2 more sources

Desmoplakin is a desmosomal mechanosensor [PDF]

bioRxiv
Yinchen Dong, Ahmed Elgerbi, Bin Xie, John S. Choy, Sanjeevi Sivasankar   +4 more
openalex   +2 more sources

Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options. [PDF]

Mol Genet Genomic Med
Pediatric cardiomyopathies are rare, heterogeneous, and challenging conditions, often with a genetic etiology. We estimated the yield of genetic testing in a pediatric cohort with cardiomyopathies and evaluated the potential candidacy to current or emerging treatments based on genetic results. Over one‐third had a conclusive genetic test, including 25%
Ballerini A, Girolami F, Gozzini A, Passantino S, Zampieri M, Marchi A, Tomberli A, Calabri GB, Spaziani G, Porcedda G, Bennati E, Favilli S, Olivotto I.   +12 more
europepmc   +2 more sources

Humanized Dsp ACM Mouse Model Displays Stress-Induced Cardiac Electrical and Structural Phenotypes

Cells, 2022
Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by fibro-fatty infiltration with an increased propensity for ventricular arrhythmias and sudden death. Genetic variants in desmosomal genes are associated with ACM.
Tyler L. Stevens, Heather R. Manring, Michael J. Wallace, Aaron Argall, Trevor Dew, Peter Papaioannou, Steve Antwi-Boasiako, Xianyao Xu, Stuart G. Campbell, Fadi G. Akar, Maegen A. Borzok, Thomas J. Hund, Peter J. Mohler, Sara N. Koenig, Mona El Refaey   +14 more
doaj   +1 more source