ABSTRACT Objectives Direct immunofluorescence (DIF) is the gold standard for diagnosing subepidermal blistering diseases (SBDs). However, DIF requires specialized expertise; therefore, alternative immunological methods such as enzyme‐linked immunosorbent assays (ELISA) are worth exploring. The aim of this review was to evaluate the diagnostic agreement
Romeo Patini +9 more
wiley +1 more source
Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex [PDF]
PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common ...
Castañón, Maria J. +8 more
core
Effect of laser-dimpled titanium surfaces on attachment of epithelial-like cells and fibroblasts. [PDF]
PurposeThe objective of this study was to conduct an in vitro comparative evaluation of polished and laserdimpled titanium (Ti) surfaces to determine whether either surface has an advantage in promoting the attachment of epithelial-like cells and ...
Ansari, Sahar +6 more
core +2 more sources
Diabetic bone marrow exhibits pathological ECM hyperviscosity that activates TRPV2‐mediated Ca2⁺ influx, leading to perinuclear F‐actin disassembly, nuclear deformation, and chromatin condensation. This cytoskeletal‐nuclear decoupling suppresses osteogenic differentiation of BMSCs.
Yao Wen +8 more
wiley +1 more source
Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury
Plectinopathies are orphan diseases caused by PLEC gene mutations. PLEC is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues.
Roman V. Deev +12 more
doaj +1 more source
Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies. [PDF]
Background: Plectinopathy-associated disorders are caused by mutations in the PLECTIN (PLEC) gene encoding Plectin protein. PLEC mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type ...
Torbati PN +12 more
europepmc +3 more sources
Plectin-1 as a Novel Biomarker for Pancreatic Cancer [PDF]
Abstract Purpose: We are in great need of specific biomarkers to detect pancreatic ductal adenocarcinoma (PDAC) at an early stage, ideally before invasion. Plectin-1 (Plec1) was recently identified as one such biomarker. However, its suitability as a specific biomarker for human pancreatic cancer, and its usability as an imaging ...
Bausch, Dirk +8 more
openaire +3 more sources
ABSTRACT Global environmental change affects organisms, including their physiology. In freshwater ecosystems, where migration is limited, populations often rely on phenotypic plasticity to respond. While transcriptomics has been widely used to study stress responses at the molecular level, less is known about the proteome, which reflects post ...
João M. Moreno +5 more
wiley +1 more source
Striatins as plaque molecules of zonulae adhaerentes in simple epithelia, of tessellate junctions in stratified epithelia, of cardiac composite junctions and of various size classes of lateral adherens junctions in cultures of epithelia- and carcinoma-derived cells [PDF]
Proteins of the striatin family (striatins 1–4; sizes ranging from 90 to 110 kDa on SDS-polyacrylamide gel electrophoresis) are highly homologous in their amino acid sequences but can differ in their cell-type-specific gene expression patterns and ...
Dörflinger, Yvette +7 more
core +2 more sources
Hemidesmosome Mutations Contribute to the Onset and Severity of Acquired Autoimmune Bullous Diseases
This study examined hemidesmosome assembly‐related genes in pemphigoid diseases, revealing variants linked to disease onset and severity. Functional analyses, including Caenorhabditis elegans models, Ker‐CT transcriptomics, human proteomics, etc., demonstrated that ITGA6 mutations destabilize hemidesmosomes, disrupt dermal–epidermal adhesion, and ...
Shan Cao +19 more
wiley +1 more source

