Results 61 to 70 of about 6,762 (204)

Arrhythmogenic Ventricular Cardiomyopathy

JACC: Case Reports, 2021
After a 20-year-old woman suddenly died, autopsy showed characteristic findings of biventricular arrhythmogenic cardiomyopathy. Screening of her family members revealed the same desmoplakin gene mutation and imaging abnormalities predominantly involving ...
Aranyak S. Rawal, MD, Tara VanCleave, BS, Neeraja Yedlapati, MD, Jeffery E. Saffitz, MD, PhD, William James Craigen, MD, PhD, John L. Jefferies, MD, MPH   +5 more
doaj   +1 more source

Role of desmoplakin mutations in the pathogenesis of non-compaction [PDF]

Europace, 2014
With interest we read the article by Lopez-Ayala et al .1 about 3 families (49 probands) in which 3 unrelated heterozygote probands and 15 asymptomatic relatives carried a novel desmoplakin mutation. In six of the mutation carriers, left ventricular hypertrabeculation/non-compaction (LVHT) was diagnosed.1 We have the following comments and concerns ...
Josef, Finsterer, Claudia, Stöllberger
openaire   +2 more sources

Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart [PDF]

, 1996
Plakoglobin (gamma-catenin), a member of the armadillo family of proteins, is a constituent of the cytoplasmic plaque of desmosomes as well as of other adhering cell junctions, and is involved in anchorage of cytoskeletal filaments to specific cadherins.
C Birchmeier, Behrend, M., Günthert, U., B Ledermann, F Vogel, M Behrend, Birchmeier, C., V Brinkmann, P Ruiz, U Günthert, Guenthert, U., Franke, W.W., C Thalhammer, Thalhammer, C., Vogel, F., Birchmeier, W., Ruiz, P., Ledermann, B., C Grund, Franke, W. W., Brinkmann, V., Grund, C., W Birchmeier, W W Franke   +23 more
core   +1 more source

Desmoplakin cardiomyopathy—an inherited cardiomyopathy presenting with recurrent episodes of acute myocardial injury [PDF]

, 2022
We present two female patients with recurrent episodes of myocardial injury, consisting of acute chest pain and elevated cardiac markers without coronary artery disease.
Segers, D., Hirsch, A., S. C. Yap, Michels, M., J. M. A. Verhagen, Schoonvelde, S. A.C., Yap, S. C.; id_orcid, D. Segers, Verhagen, J. M.A., A. Hirsch, van Slegtenhorst, M. A., M. A. van Slegtenhorst, S. A. C. Schoonvelde, M. Michels, Hirsch, A.; id_orcid, J. E. van Loon, Yap, S. C., Verhagen, J. M.A.; id_orcid, van Loon, J. E., Michels, M.; id_orcid   +19 more
core   +2 more sources

A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis

Annals of Pediatric Cardiology
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy associated with fibrofatty tissue replacement of the ventricular tissue. The disease can cause ventricular dysfunction and arrhythmias and can increase the risk of sudden cardiac death ...
Rachelle E. Srinivas, Lydia K. Wright, Deipanjan Nandi, Emily A. Hayes   +3 more
doaj   +1 more source

CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation. [PDF]

PLoS ONE, 2015
Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are causative for Joubert-syndrome and Joubert-related developmental disorders.
Johan Sternemalm, Stefan Geimer, Kari-Anne M Frikstad, Kay O Schink, Trond Stokke, Sebastian Patzke   +5 more
doaj   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1807-1813, August 2026.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Functional analysis of Desmoplakin during postnatal development of the hippocampus

, 2015
The hippocampus plays a pivotal role in learning and memory behavior. The hippocampus, in particular the dentate gyrus, is one of two locations with neurogenesis continuing in the adult brain.
Venkataramanappa, Sathish
core   +1 more source

A novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy [PDF]

, 2005
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities of the right ventricle (RV). Several disease loci have been identified.
Shaw, Anthony, Hughes, Sîan, Rowland, Edward, Norman, MW, Mogensen, J, Hughes, S, Simpson, M, Mogensen, Jens, Shaw, A, Crosby, Andrew, McKenna, William J, Rowland, E, Sen-Chowdhry, S, Sen-Chowdhry, Srijita, Syrris, Petros, Simpson, Michael, Norman, Mark, McKenna, WJ, Crosby, A   +18 more
core   +1 more source

ADAMTS4 mediates LPS‐induced cardiac injury and myocardial fibrosis through proteolytic cleavage of TSP1

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
• ADAMTS4 is induced primarily in cardiac fibroblasts during sepsis. • ADAMTS4 cleaves TSP1 at the 236–246 aa functional region. • TSP1 cleavage activates TGF‐β/Smad and NF‐κB signalling in fibroblasts. • Targeting ADAMTS4 reduces fibroblast activation and cardiac fibrosis.
Zhe‐Wei Zhang, Shi‐Yan Wan, Wen Li, Xiao Lu, Rong Chen, Xin Xing, Wei Lai, Shu‐Yang Sheng, M. M. Mosebetsi, Qing‐Tao Meng, Zi‐Long Lu, Di Fan, Wan‐Li Jiang   +12 more
wiley   +1 more source