Results 121 to 130 of about 6,762 (204)

Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy

Abstract Background Desmoplakin (DSP) cardiomyopathy, caused by variants in the gene DSP , is a unique subtype of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathies.
Eric Smith, Alessio Gasperetti, Richard T Carrick, Alexandros Protonotarios, Petros Syrris, Barbara Bauce, Kalliopi Pilichou, Brittney Murray, Crystal Tichnell, Cristina Basso, Paul Anders Sletten Olsen, Chiara Cappelletto, Victoria N. Parikh, Liang Chen, Stacey Peters, Antonella Mancinelli, Anna Maria Iorio, Roberta Scotto, Julia Cadrin-Tourigny, Nisha A. Gilotra, Manuela Iseppi, Giovanni Peretto, Marco Schiavone, Mark Abela, Daniela Vargas, Cinzia Crescenzi, Leonardo Calò, James Ware, Lia Crotti, Michele Ciabatti, Michela Casella, Alexandra Apostu, Ruxandra Jurcut, Claudia Raineri, Filippo Angelini, Carlos Fernández-Sellers, Esther Zorio, Sing-Chien Yap, Moniek G Cox, Arman Salavati, Anneline te Riele, Arthur Wilde, Ahmad S. Amin, Peter van Tintelen, Ardan M. Saguner, Firat Duru, Dominic Abrams, Marina Cerrone, Maddalena Graziosi, Elena Biagini, Juan Ramon Gimeno, Estelle Gandjbakhch, Neal Lakdawala, Maurizio Pieroni, Marco Merlo, Gianfranco Sinagra, Kristina Haugaa, Elena Arbelo, Perry M. Elliott, Matthew Taylor, Luisa Mestroni, Hugh Calkins, Cynthia A. James, Adam S. Helms   +63 more
openaire   +2 more sources

Desmoplakin Mutations in Cardiac Fibroblasts Cause TGFβ1-Mediated Pathological Fibrogenesis in Desmoplakin Cardiomyopathy Via Beclin-1 Regulation. [PDF]

Circ Res
Wei C, Shou W, Chan SF, Saguner AM, Brunckhorst C, Duru F, Marine JE, James CA, Calkins H, Judge DP, Chen HV.   +10 more
europepmc   +1 more source

Homozygous Nonsense <i>DSP</i> Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings. [PDF]

J Clin Med
Al-Mutairi DA, Al-Qbandi MA, AlTurki A, Naief AA, Helms AS.   +4 more
europepmc   +1 more source

Distinguishing desmoplakin cardiomyopathy from cardiac sarcoidosis via cardiac magnetic resonance imaging and fluorodeoxyglucose positron emission tomography/computed tomography. [PDF]

J Nucl Cardiol
Gucuk Ipek E, Hankinson SJ, Lakdawala NK, Blankstein R, Di Carli MF, Divakaran S.   +5 more
europepmc   +1 more source

Desmosomes compartmentalize mRNA and translation in the skin. [PDF]

Dev Cell
D'Alessandro A, Badu-Nkansah K, Link S, Hlavaty D, Bjerke G, Nicchitta CV, Yi R, Lechler T.   +7 more
europepmc   +1 more source

Untargeted metabolomics and proteomics reveals cocoa-mediated mitigation of valproic acid-induced dysregulation in a zebrafish model of autism: pilot study. [PDF]

Metabolomics
Li J, Haj-Husein I, Ghafari N, Khorraminezhad L, Iskandar M, Zaouter C, Klein M, Sleno L, Patten SA, Kubow S.   +9 more
europepmc   +1 more source

Genetic Dilated Cardiomyopathy: A Review. [PDF]

Methodist Debakey Cardiovasc J
Boslough M, Taylor MRG, Mestroni L, Lombardi R.   +3 more
europepmc   +1 more source

Desmosomal-Type Acantholysis-A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins. [PDF]

Dermatopathology (Basel)
Metze D, Süßmuth K, Metze C, Oji V, Traupe H.   +4 more
europepmc   +1 more source

Recurrent myocarditis in a young female with a desmoplakin gene variant: a case report and literature review. [PDF]

Front Cardiovasc Med
Liu C, Wen W, Qu M, Jin Z, Xu J, Lu X, Zhang Z.   +6 more
europepmc   +1 more source

Recurrent myocarditis as a clinical gateway to desmoplakin cardiomyopathy: a case report. [PDF]

Eur Heart J Case Rep
Reyes T RE, Vargas-Hernández DA, Cañón DP, Figueroa JF.   +3 more
europepmc   +1 more source