A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma
Abstract: Striate keratodermas (PPKS) (OMIM 148700) are a rare group of autosomal dominant genodermatoses characterized by palmoplantar keratoderma typified by streaking hyperkeratosis along each finger and extending onto the palm of the hand. We report a four‐generation kindred originating from Iran‐Syria in which three members were affected with ...
Leon Gilead+6 more
openaire +4 more sources
Rituximab therapy improves recalcitrant Pemphigus vulgaris [PDF]
Pemphigus is a severe life-threatening blistering disease associated with autoantibodies against cell adhesion proteins desmogleins 1 and 3. Patients with severe pemphigus commonly show high rates of relapse after conventional immunosuppressive therapy ...
Balighi, Kamran+7 more
core
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
The progestin receptor interactome in the female mouse hypothalamus: Interactions with synaptic proteins are isoform specific and ligand dependent [PDF]
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
core +3 more sources
Engineered Tissue Models to Decode Host–Microbiota Interactions
Host–Microbiota interactions in the human body. Created in BioRender. Ghezzi, C. (2025) https://BioRender.com/ihivskg. Abstract A mutualistic co‐evolution exists between the host and its associated microbiota in the human body. Bacteria establish ecological niches in various tissues of the body, locally influencing their physiology and functions, but ...
Miryam Adelfio+5 more
wiley +1 more source
Functional Effects of the TMEM43 Ser358Leu Mutation in the Pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy [PDF]
Background: The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood.
Ahmad, Ferhaan+4 more
core +5 more sources
Sita‐ and saxagliptin use and autoantibodies to autoimmune bullous diseases: A cross‐sectional study
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Sören Dräger+8 more
wiley +1 more source
Prolonged Vancomycin‐Induced Linear IgA Disease in a Patient With Renal Failure
ABSTRACT A 64‐year‐old man with pneumococcal septic shock and subsequent renal failure underwent treatments with antibiotics including intravenous vancomycin (VCM). Blistering skin lesions appeared 10 days after the initiation of VCM. When the patient was transferred to us 5 months later, blisters with erythema were still observed on the abdomen and ...
Kaori Takezawa+5 more
wiley +1 more source
Evidence for Dsg3 in regulating Src signaling by competing with it for binding to caveolin-1
This data article contains extended, complementary analysis related to the research articles entitled “Desmoglein 3, via an interaction with E-cadherin, is associated with activation of Src” (Tsang et al., 2010) [1] and figures related to the review ...
Hong Wan+3 more
doaj
c-Src/Cav1-dependent activation of the EGFR by Dsg2. [PDF]
The desmosomal cadherin, desmoglein 2 (Dsg2), is deregulated in a variety of human cancers including those of the skin. When ectopically expressed in the epidermis of transgenic mice, Dsg2 activates multiple mitogenic signaling pathways and increases ...
Brennan-Crispi, Donna M.+8 more
core +2 more sources