Results 61 to 70 of about 10,499 (199)
Pediatric Dermatology, EarlyView.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).
Sepideh Hamzehlou +7 more
wiley +1 more source
Desmoglein 2 is less important than desmoglein 3 for keratinocyte cohesion. [PDF]
, 2013 Desmosomes provide intercellular adhesive strength required for integrity of epithelial and some non-epithelial tissues. Within the epidermis, the cadherin-type adhesion molecules desmoglein (Dsg) 1-4 and desmocollin (Dsc) 1-3 build the adhesive core of ...
Hartlieb, Eva +5 more
core +8 more sources
The 'Spectraplakins': cytoskeletal giants with characteristics of both spectrin and plakin families [PDF]
, 2002 Recent studies have characterised a family of giant cytoskeletal crosslinkers encoded by the short stop gene in Drosophila and the dystonin/BPAG1 and MACF1 genes in mammals.
Brown, N., Gregory, S., Roeper, K.
core +2 more sources
Photochemistry and Photobiology, EarlyView.Exposure to solar ultraviolet radiation is the main etiologic driver of nonmelanoma skin cancers (NMSCs), including basal cell (BCC) and cutaneous squamous cell carcinomas (cSCC), which are the most prevalent types of cancers in the US. In this study, we demonstrate that the serine/threonine kinase Polo‐like kinase 4 (PLK4) is overexpressed in NMSCs ...
Mary A. Ndiaye +5 more
wiley +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 +5 more
doaj +1 more source
A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. [PDF]
, 2015 Keratin intermediate filaments (KIFs) protect the epidermis against mechanical force, support strong adhesion, help barrier formation, and regulate growth.
Adams +140 more
core +1 more source
BioEssays, Volume 48, Issue 1, January 2026.In distal limb wounds on the horse, the proliferative phase of repair often produces excessive granulation tissue that delays healing by impeding keratinocyte migration from wound margins. This essay examines the basis for the hypothesis that ephrin–Eph signaling pathways that stimulate keratinocyte migration provide novel targets for re‐establishing ...
Rodolfo D. Vicetti Miguel +3 more
wiley +1 more source
Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy. [PDF]
, 2019 Phospholamban (PLN) p.Arg14del cardiomyopathy is characterized by a distinct arrhythmogenic biventricular phenotype that can be predominantly left ventricular, right ventricular, or both.
Asimaki, A +10 more
core +3 more sources
The FEBS Journal, Volume 293, Issue 2, Page 418-442, January 2026.We analysed collagen XV expression in myocardial infarct samples and assessed how its deficiency affects cardiac responses, such as fibrogenesis and tissue stiffness. In mice, damage caused by myocardial infarction is exacerbated in the absence of collagen XV and leads to pathological remodelling and more severe left ventricle dysfunction (left panel ...
Sanna‐Maria Karppinen +15 more
wiley +1 more source
A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis
Annals of Pediatric CardiologyArrhythmogenic 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 +3 more
doaj +1 more source