Results 121 to 130 of about 11,754 (266)
In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified.
Maria Grazia De Gregorio, MD+6 more
doaj
Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy.
T. G. Vaikhanskaya+5 more
doaj +1 more source
This report contains a gene expression summary of the dentate gyrus (DG), derived from the Allen Brain Atlas (ABA) _in situ_ hybridization mouse data set.
Allen Institute for Brain Science+3 more
core +2 more sources
In this study we utilized proteomic profiling to investigate mechanisms linked to the cancer‐inhibitory effect of cranberry proanthocyanidins (CPACs) on reflux‐induced esophageal adenocarcinoma in a rat model. The results indicate that CPAC inhibits cancer through targeting multiple hallmarks of cancer known to be dysregulated in progression to ...
Yun Zhang+7 more
wiley +1 more source
Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation [PDF]
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
Hailey‐Hailey Disease: An Updated Review With a Focus on Therapeutic Mechanisms
ABSTRACT Background Hailey‐Hailey disease (HHD), or familial benign chronic pemphigus, is a rare autosomal dominant genodermatosis characterized by chronic, painful, erythematous, erosive plaques and fissures at sites of friction such as the neck, axilla, groin, and perineum.
Mahesh Mathur+4 more
wiley +1 more source
Trim32 reduces PI3K–Akt–FoxO signaling in muscle atrophy by promoting plakoglobin–PI3K dissociation [PDF]
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
core +1 more source
ABSTRACT Posttraumatic osteoarthritis (PTOA) is a common sequela to anterior cruciate ligament (ACL) injury in humans and dogs. Identification of conserved targets between species may hasten biomarker identification and therapeutic development. To identify differentially regulated synovial fluid (SF) proteins in ACL injury, SF samples were collected ...
Sydney J. Womack+4 more
wiley +1 more source
Cytokeratin and Desmoplakin Analogues within an Intracellular Parasite
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
openaire +4 more sources
Cardiac sarcoidosis with severe involvement of the right ventricle: a case report
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
doaj +1 more source