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 +6 more
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Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes:implications for genetic screening [PDF]
, 2017 INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology
Almutawa +16 more
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Scientific ReportsArrhythmogenic cardiomyopathy (AC) is a common cause of sudden cardiac arrest and death in young adults. It can be induced by different types of mutations throughout the desmoplakin gene including the R2834H mutation in the extreme carboxyterminus tail ...
Cedric Badowski +3 more
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Citrullination – small change with a great consequence [PDF]
, 2013 Citrullination is one of the possible post-translational modifications of proteins. It is based on a conversion of L-arginine residue (L-Arg) to L-citrulline residue (L-Cit). The reaction is catalyzed by peptidylarginine deiminases (PAD). The change of L-
Gogól Mariusz
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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 +5 more
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The progestin receptor interactome in the female mouse hypothalamus: Interactions with synaptic proteins are isoform specific and ligand dependent [PDF]
, 2017 Progestins bind to the progestin receptor (PR) isoforms, PR-A and PR-B, in brain to influence development, female reproduction, anxiety, and stress. Hormone-activated PRs associate with multiple proteins to form functional complexes. In the present study,
Acharya, Kalpana D +12 more
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Trim32 reduces PI3K–Akt–FoxO signaling in muscle atrophy by promoting plakoglobin–PI3K dissociation [PDF]
, 2014 Activation of the PI3K–Akt–FoxO pathway induces cell growth, whereas its inhibition reduces cell survival and, in muscle, causes atrophy. Here, we report a novel mechanism that suppresses PI3K–Akt–FoxO signaling. Although skeletal muscle lacks desmosomes,
Cohen, Shenhav +4 more
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Cytokeratin and Desmoplakin Analogues within an Intracellular Parasite
The Biological Bulletin, 1990 A significant amount of the total protein in the spore sacs of the microsporidian Thelohania sp. consisted of the cytoskeletal elements, cytokeratin intermediate filaments, and the desmosomal analogues. The cytokeratin and desmosomal analogues were organized as cage envelopes surrounding the spores within the spore sac stage. Thelohania sp. parasitizes
Weidner, Earl +3 more
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A case of arrhythmic cardiomyopathy caused by rare multiple gene mutations
Frontiers in Cardiovascular MedicineArrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterized by a high risk of ventricular tachycardia and sudden cardiac death, often involving the right ventricle or both ventricles, with the initial onset usually in adolescence or ...
Kaiqin Liang +7 more
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De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease
Swiss Medical Weekly, 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 ...
Dagmar I Keller +9 more
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