Results 91 to 100 of about 6,762 (204)

Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation [PDF]

Exploration of Cardiology
We aim to describe a unique case of a desmoplakin gene mutation with refractory ventricular arrhythmia and cardiomyopathy. We describe a 29-year-old man hospitalized for chest pain and cardiomyopathy, who subsequently developed ventricular arrhythmia ...
Jas Virk, David Notman, Vinay Thohan
doaj   +1 more source

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

, 2002
The constitutive desmosomal plaque protein desmoplakin plays a vital part in keratinocyte adhesion in linking the transmembranous desmosomal cadherins to the cytoplasmic keratin filament network.
Hyde, P, Pulkkinen, L, Uitto, J, Christiano, A M, McGrath, J A, Garzon, M C, Whittock, N V, McLean, W H I, Morley, S M, Eady, R A J, Kristal, L, Wan, H   +11 more
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Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage [PDF]

, 1998
Desmosomes first assemble in the E3.5 mouse trophectoderm, concomitant with establishment of epithelial polarity and appearance of a blastocoel cavity. Throughout development, they increase in size and number and are especially abundant in epidermis and ...
Vasioukhin, V., Fuchs, E., Bauer, C., Degenstein, L., Yin, M., Gallicano, G. I., Kouklis, P.   +6 more
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Naxos Disease and Related Cardio-Cutaneous Syndromes

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
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Cardiac sarcoidosis with severe involvement of the right ventricle: a case report

Autopsy and Case Reports, 2015
We present the case of a patient who underwent cardiac transplantation with the diagnosis of idiopathic dilated cardiomyopathy. Once the explanted heart was examined, a type of granulomatous myocarditis compatible with cardiac sarcoidosis was observed ...
Weverton César Siqueira, Samuel Gonçalves da Cruz, Angeliki Asimaki, Jeffrey Ern Saffitz, Maria da Consolação Vieira Moreira, Geraldo Brasileiro Filho, Luiz Otávio Savassi Rocha   +6 more
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Desmoplakin as a Potential Candidate for Cerebrospinal Fluid Marker to Rule Out 14-3-3 False Positive Rates in Sporadic Creutzfeldt-Jakob Disease Differential Diagnosis

, 2012
Background:The detection of a 14-3-3 elevated level in cerebrospinal fluid (CSF) is a part of the diagnostic criteria for probable sporadic Creutzfeldt-Jakob disease (sCJD), as defined by the WHO.
Sanchez-Juan, Pascual, Schmitz, Matthias, Ciesielczyk, Barbara, Heinemann, Uta, Zerr, Inga, Gawinecka, Joanna   +5 more
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Desmosomal Component Expression in Normal, Dysplastic, and Oral Squamous Cell Carcinoma

Dermatology Research and Practice, 2010
Squamous cell carcinoma (oral SCC) is the most common oral cancer in the U.S., affecting nearly 30,000 Americans each year. Despite recent advances in detection and treatment, there has been little improvement in the five-year survival rate for this ...
Nagamani Narayana, Julie Gist, Tyler Smith, Daniel Tylka, Gavin Trogdon, James K. Wahl   +5 more
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Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications

, 2007
We report a case of a 43 year old man from Spain, who has been diagnosed with Naxos disease. It is a hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy, which has been associated with a mutation in plakoglobin ...
Pérez Villacastín Domínguez, Julián, García Torrent, María Jesús, Zamorano León, José Javier, Macaya Miguel, Carlos, López Farre, Antonio José, Fernández Arquero, Miguel, Pérez Castellano, Nicasio, Alonso Orgaz, S   +7 more
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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

, 2006
Background: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane.
Wollnik, Bernd, Kelsell, DP, Dupont, E, Sahin, S. E., Dindar, A, Dindar, A., Nisli, K, Norgett, E. E., Kayserili, Hülya, Severs, N. J., Leigh, IM, Kelsell, D. P., Severs, NJ, Uzumcu, A, Norgett, EE, Leigh, I. M., Uyguner, O, Kayserili, H, Uyguner, Oya, Wollnik, B, Sahin, SE, Yuksel-Apak, M, Uzumcu, Abdullah, Yüksel Apak, Memnune   +23 more
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De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease [PDF]

, 2012
STUDY/PRINCIPLES: Arrythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal-dominantly inherited disease caused by mutations in genes encoding desmosomal proteins and is characterised by fibrofatty replacement occurring ...
Guenthard, Joelle, Balmer, Christian, Simon, Françoise, Keller, Dagmar I, Bauer, Fabrice, David, Nadine, Stepowski, Dimitri, Itin, Peter, Drouin-Garraud, Valérie, Fressart, Véronique   +9 more
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