Results 11 to 20 of about 1,152 (175)

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

Erythrokeratodermia-Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions. [PDF]

Pediatr Dermatol
ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Hamzehlou S, Mortlock RD, Echeandia-Francis C, Zhou J, Xing C, Agim NG, Choate KA, Glass DA.   +7 more
europepmc   +2 more sources

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy

Chinese Medical Journal, 2021
Abstract Desmoplakin (DSP), encoded by the DSP gene, is the main desmosome component and is abundant in the myocardial tissue. There are three DSP isoforms that assume the role of supporting structural stability through intercellular adhesion.
Zhong-Yu Yuan, Li-Ting Cheng, Ze-Feng Wang, Yong-Quan Wu, Ning-Ning Wang   +4 more
openaire   +3 more sources

Desmoplakin and features of desmoplakin cardiomyopathy

Russian Journal of Cardiology, 2023
Inherited cardiomyopathies (CMP) are a group of heterogeneous diseases characterized by myocardial disorders that is not caused by coronary artery disease, hypertension, valvular and congenital defects. With the development of imaging methods and molecular genetic diagnostics, it has become clear that many CMPs are characterized by phenotypic and ...
R. P. Myasnikov, N. N. Kuzina, D. A. Nefedova, A. V. Kiseleva, O. V. Kulikova, A. N. Meshkov, M. M. Kudryavtseva, E. A. Mershina, M. G. Divashuk, E. V. Ryzhkova, M. S. Kharlap, O. M. Drapkina   +11 more
openaire   +2 more sources

Paraneoplastic pemphigus associated with chronic lymphocytic leukemia: a case report

Journal of Medical Case Reports, 2018
Background Paraneoplastic pemphigus is a rare multiorgan disease of autoimmune causes, usually triggered by neoplasias, mainly of lymphoproliferative origin, such as leukemia and lymphoma.
Richard Lucas Konichi-Dias, Aline Fernanda Ramos, Mauricio Eiji de Almeida Santos Yamashita, Cristiane Botelho Miranda Cárcano   +3 more
doaj   +1 more source

Paraneoplastic pemphigus with clinical features of lichen planus associated with low-grade B cell lymphoma [PDF]

, 2005
BACKGROUND: Neoplasia-induced lichen planus is described as a cell-mediated reaction to unknown epithelial antigens. Paraneoplastic pemphigus (PNP), characterized by the presence of a specific array of autoantibodies, probably represents a different form
Black, M, Coelho, S, Figueiredo, A, Reis, JP, Tellechea, O   +4 more
core   +1 more source

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, Brittney Murray, Crystal Tichnell, Nisha A Gilotra, Stefan L Zimmerman, Alessio Gasperetti, Paul Scheel, Harikrishna Tandri, Hugh Calkins, Cynthia A James   +9 more
openaire   +3 more sources

GSK3- and PRMT-1–dependent modifications of desmoplakin control desmoplakin–cytoskeleton dynamics [PDF]

Journal of Cell Biology, 2015
Intermediate filament (IF) attachment to intercellular junctions is required for skin and heart integrity, but how the strength and dynamics of this attachment are modulated during normal and pathological remodeling is poorly understood. We show that glycogen synthase kinase 3 (GSK3) and protein arginine methyltransferase 1 (PRMT-1) cooperate to ...
Albrecht, Lauren V., Zhang, Lichao, Shabanowitz, Jeffrey, Purevjav, Enkhsaikhan, Towbin, Jeffrey A., Hunt, Donald F., Green, Kathleen J.   +6 more
openaire   +2 more sources

PANoptosis is a prominent feature of desmoplakin cardiomyopathy

The Journal of Cardiovascular Aging, 2022
Introduction: Arrhythmogenic cardiomyopathy (ACM) is hereditary cardiomyopathy caused by pathogenic variants (mutations) in genes encoding the intercalated disc (ID), particularly desmosome proteins. ACM caused by mutations in the DSP gene encoding desmoplakin (DSP) is characterized by the prominence of cell death, myocardial fibrosis, and inflammation,
Olcum, Melis, Rouhi, Leila, Fan, Siyang, Gonzales, Maya M, Jeong, Hyun-Hwan, Zhao, Zhongming, Gurha, Priyatansh, Marian, Ali J   +7 more
openaire   +2 more sources

S2k guidelines on the management of paraneoplastic pemphigus/paraneoplastic autoimmune multiorgan syndrome initiated by the European Academy of Dermatology and Venereology (EADV). [PDF]

, 2023
BACKGROUND Paraneoplastic pemphigus (PNP), also called paraneoplastic autoimmune multiorgan syndrome (PAMS), is a rare autoimmune disease with mucocutaneous and multi-organ involvement.
Antiga, Emiliano, Bech, Rikke, Bockle, Barbara, Borradori, Luca, Caproni, Marzia, Caux, Frédéric, Chandran, Nisha Suyien, Corrà, Alberto, D'Amore, Francesco, Daneshpazhooh, Maryam, De, Dipankar, Didona, Dario, Dmochowski, Marian, Drenovska, Kossara, Ehrchen, Jan, Feliciani, Claudio, Genovese, Giovanni, Goebeler, Matthias, Groves, Richard, Günther, Claudia, Handa, Sanjeev, Hashimoto, Takashi, Hofmann, Silke C, Horvath, Barbara, Ioannidis, Dimitrios, Jedlickova, Hana, Joly, Pascal, Kowalewski, Cezary, Kridin, Khalaf, Lim, Yen Loo, Maglie, Roberto, Marinovic, Branka, Marzano, Angelo Valerio, Mascarò, José Manuel, Maverakis, Emanual, Meijer, Joost, Patsatsi, Aikaterini, Pincelli, Carlo, Prost, Catherine, Schmidt, Enno, Setterfield, Jane, Skiljevic, Dusan, Sprecher, Eli, Tasanen, Kaisa, Uzun, Soner, Van Beek, Nina, Vassileva, Snejina, Vorobyev, Artem, Vujic, Igor, Wang, Gang, Wang, Mingyue, Wozniak, Katarzyna, Yayli, Savas, Zambruno, Giovanna   +53 more
core   +7 more sources