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Desmoplakin

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https://www.readbyqxmd.com/read/29905981/alterations-in-desmosomal-adhesion-at-protein-and-ultrastructure-levels-during-the-sequential-progressive-grades-of-human-oral-tumorigenesis
#1
Sharada Sawant, Harsh Dongre, Chetan Ahire, Shilpi Sharma, Sayli Jamghare, Yashvi Kansara, Pallavi Rane, Deepak Kanojia, Asawari Patil, Devendra Chaukar, Sudeep Gupta, Anil D'Cruz, Milind Vaidya, Prabhakar Dongre
With the aim of developing early diagnostic/prognostic markers for oral cancer, desmosomal adhesion in sequentially progressive grades of tissues from oral normal/disorders (normal, hyperplastic, dysplastic, non-metastatic/metastatic tumours, and metastatic nodes) was investigated at protein and ultrastructural levels using immunohistochemistry and transmission electron microscopy, respectively. The expression of desmosomal proteins was higher in hyperplastic tissues than in normal tissues but was significantly decreased in subsequent progressive stages of the disease...
June 15, 2018: European Journal of Oral Sciences
https://www.readbyqxmd.com/read/29768670/patients-affected-by-a-new-variant-of-endemic-pemphigus-foliaceus-have-autoantibodies-colocalizing-with-myzap-p0071-desmoplakins-1-2-and-arvcf-causing-renal-damage
#2
A M Abreu-Velez, M S Howard, H Yi, A A Florez-Vargas
BACKGROUND: We have previously reported that about 30% of patients affected by a new variant of endemic pemphigus foliaceus (EPF) in El Bagre, Colombia (termed El Bagre-EPF or pemphigus Abreu-Manu) have systemic compromise. In the current study, we focused on studying autoreactivity to the kidney and its pathological correlations. AIM: To investigate patients with El Bagre-EPF for renal compromise. METHODS: We performed a case-control study, enrolling 57 patients with El Bagre-EPF and 57 controls from the endemic area, matched by age, sex, race, work activity, demographics and comorbidities...
May 16, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29754204/diagnosing-arvc-in-pediatric-patients-applying-the-revised-task-force-criteria-importance-of-imaging-12-lead-ecg-and-genetics
#3
Michael Steinmetz, Ulrich Krause, Peter Lauerer, Frank Konietschke, Randolph Aguayo, Christian Oliver Ritter, Andreas Schuster, Joachim Lotz, Thomas Paul, Wieland Staab
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a potentially lethal disease that is well described in adults. In pediatric patients, however, identification of patients at risk of adverse events of ARVC remains a challenge. We aimed to determine which criteria of the revised Task Force Criteria (rTFC), alone or combined, have an impact on diagnosis of ARVC when compared to disease-specific genetic mutations in pediatric patients ≤ 18 years. Between September 2010 and December 2013, 48 consecutive young patients ≤ 18 years of age (mean 14, range of 12...
May 12, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29709661/effect-of-intermittent-shear-stress-on-corneal-epithelial-cells-using-an-in-vitro-flow-culture-model
#4
Ulrike Hampel, Fabian Garreis, Fabian Burgemeister, Nicole Eßel, Friedrich Paulsen
PURPOSE: The aim of this study was to establish and to evaluate an in vitro model for culturing human telomerase-immortalized corneal epithelial (hTCEpi) cells under adjustable medium flow mimicking the movements of the tear film on the ocular surface. METHODS: Using an IBIDI pump system, cells were cultured under unidirectional, continuous or oscillating, discontinuous medium flow. Cell surface and cytoskeletal architecture were investigated by scanning electron microscopy and immunofluorescence...
April 27, 2018: Ocular Surface
https://www.readbyqxmd.com/read/29607617/a-novel-heterozygous-missense-mutation-of-dsp-in-a-chinese-han-pedigree-with-palmoplantar-keratoderma
#5
Ke Xue, Yajie Zheng, Yong Cui
BACKGROUND: Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). AIMS: To better understand the relationship between PPK and the gene mutations in DSP. METHODS: A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study...
April 1, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29522173/loss-of-cardiac-wnt-%C3%AE-catenin-signalling-in-desmoplakin-deficient-ac8-zebrafish-models-is-rescuable-by-genetic-and-pharmacological-intervention
#6
Alice Giuliodori, Giorgia Beffagna, Giulia Marchetto, Chiara Fornetto, Francesco Vanzi, Stefano Toppo, Nicola Facchinello, Mattia Santimaria, Andrea Vettori, Stefania Rizzo, Mila Della Barbera, Kalliopi Pilichou, Francesco Argenton, Gaetano Thiene, Natascia Tiso, Cristina Basso
Aims: Arrhythmogenic cardiomyopathy (AC) is an inherited heart disease characterized by life-threatening ventricular arrhythmias and fibro-fatty replacement of the myocardium. More than 60% of AC patients show pathogenic mutations in genes encoding for desmosomal proteins. By focusing our attention on the AC8 form, linked to the junctional protein Desmoplakin (DSP), we present here a zebrafish model of DSP deficiency, exploited to identify early changes of cell signalling in the cardiac region...
March 7, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29484758/forskolin-mediated-bewo-cell-fusion-involves-down-regulation-of-mir-92a-1-5p-that-targets-dysferlin-and-protein-kinase-camp-activated-catalytic-subunit-alpha
#7
Richa Dubey, Sudha S Malhotra, Satish K Gupta
PROBLEM: To study the role of miRNA(s) during trophoblastic BeWo cell fusion. METHOD OF STUDY: Changes in miRNA(s) profile of BeWo cells treated with forskolin were analyzed using Affymetrix miRNA microarray platform. Down-regulated miRNA, miR-92a-1-5p, was overexpressed in BeWo cells followed by forskolin treatment to understand its relevance in the process of BeWo cell fusion by desmoplakin I+II staining and hCG secretion by ELISA. Predicted targets of miR-92a-1-5p were also confirmed by qRT-PCR/Western blotting...
June 2018: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29445566/patients-affected-by-endemic-pemphigus-foliaceus-in-colombia-south-america-exhibit-autoantibodies-to-optic-nerve-sheath-envelope-cell-junctions
#8
Ana Maria Abreu-Velez, Wendy Gao, Michael S Howard
Background: The majority of the patients affected by a new variant of endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre EPF or pemphigus Abreu-Manu), have experienced vision problems; we have previously reported several ocular abnormalities. Methods: Here, we aimed to investigate reactivity to optic nerves in these patients. We utilized bovine, rat and mouse optic nerves, and performed immunofluorescence and confocal microscopy to test for optical nerve autoreactivity...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29373494/microtubule-actin-crosslinking-factor-1-and-plakins-as-therapeutic-drug-targets
#9
REVIEW
Quincy A Quick
Plakins are a family of seven cytoskeletal cross-linker proteins (microtubule-actin crosslinking factor 1 (MACF), bullous pemphigoid antigen (BPAG1) desmoplakin, envoplakin, periplakin, plectin, epiplakin) that network the three major filaments that comprise the cytoskeleton. Plakins have been found to be involved in disorders and diseases of the skin, heart, nervous system, and cancer that are attributed to autoimmune responses and genetic alterations of these macromolecules. Despite their role and involvement across a spectrum of several diseases, there are no current drugs or pharmacological agents that specifically target the members of this protein family...
January 26, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29291530/cellular-biomechanics-impairment-in-keratinocytes-is-associated-with-a-c-terminal-truncated-desmoplakin-an-atomic-force-microscopy-investigation
#10
Luca Puzzi, Daniele Borin, Valentina Martinelli, Luisa Mestroni, David P Kelsell, Orfeo Sbaizero
In a tissue continuously challenged by mechanical stresses, such as the skin or the heart, cells perceive information about their microenvironment through several adhesive protein complexes and activate cell-signaling events to maintain tissue cohesion. Consequently, alteration of cell adhesion components leads to aberrant assembly of the associated cytoplasmic scaffolding and signaling pathways, which may reflect changes to the tissue physiology and mechanical resistance. Desmoplakin is an essential component of the cell-cell junction, anchoring the desmosomal protein complex to the intermediate filaments (IFs)...
March 2018: Micron: the International Research and Review Journal for Microscopy
https://www.readbyqxmd.com/read/29277685/cardiac-rhythm-and-pacemaking-abnormalities-in-patients-affected-by-endemic-pemphigus-in-colombia-may-be-the-result-of-deposition-of-autoantibodies-complement-fibrinogen-and-other-molecules
#11
Ana Maria Abreu Velez, Michael S Howard, Jorge Enrique Velazquez-Velez
BACKGROUND: We previously showed that one-third of patients affected by endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre-EPF), display autoreactivity to the heart. OBJECTIVE: The purpose of this study was to investigate rhythm disturbances with the presence of autoantibodies and correlate them with ECG changes in these patients. METHODS: We performed a study comparing 30 patients and 30 controls from the endemic area, matched by demographics, including age, sex, weight, work activities, and comorbidities...
December 24, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29273475/plectin-controls-biliary-tree-architecture-and-stability-in-cholestasis
#12
Marketa Jirouskova, Katerina Nepomucka, Gizem Oyman-Eyrilmez, Alzbeta Kalendova, Helena Havelkova, Lenka Sarnova, Karel Chalupsky, Bjoern Schuster, Oldrich Benada, Petra Miksatkova, Martin Kuchar, Ondrej Fabian, Radislav Sedlacek, Gerhard Wiche, Martin Gregor
BACKGROUND & AIMS: Plectin, a highly versatile cytolinker protein, controls intermediate filament cytoarchitecture and cellular stress response. In the present study, we investigate the role of plectin in the liver under basal conditions and in experimental cholestasis. METHODS: We generated liver-specific plectin knockout (PleΔalb ) mice and analyzed them using two cholestatic liver injury models: bile duct ligation (BDL) and 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC) feeding...
May 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29202574/effect-of-biostimulation-on-oral-fibroblast-a-pilot-study
#13
A Palmieri, A Avantaggiato, F Cura, R Papalia, M Casale, F Bressi, L Scapoli
Bio-stimulation is a technique in aesthetic medicine in which different drugs such as nucleotides, antioxidants and glucosaminoglycans precursors are injected in the dermis to improving the anabolic function of dermal fibroblasts, i.e., protein synthesis, replication and production of extracellular matrix components. It can be achieved with multiple intra-dermal injections, using two protocols: 1) Polydeoxyribonucleotide (PDRN) plus glucosamine sulphate (Gluc); 2) N-acetylcysteine (NAC) and amino acids (Aa) (named Bio- NAC procedure)...
December 27, 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29178656/unique-genetic-background-and-outcome-of-non-caucasian-japanese-probands-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#14
Yuko Wada, Seiko Ohno, Takeshi Aiba, Minoru Horie
BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESULTS: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29152726/autoantibodies-to-full-body-vascular-cell-junctions-colocalize-with-myzap-arvcf-desmoplakins-i-and-ii-and-p0071-in-endemic-pemphigus-in-colombia-south-america
#15
Ana M Abreu Velez, Hong Yi, Gunnar Warfvinge, Michael S Howard
BACKGROUND: We previously described a new variant of endemic pemphigus foliaceus in El Bagre, Colombia (El Bagre-EPF). METHODS: Here we aimed to investigate disease autoreactivity to vessels in all body organs/systems. We compared 57 patients and 57 controls from the endemic area, matched by demographics, age, sex, and work activity. We performed immunofluorescence, immunohistochemistry, confocal microscopy, immunoblotting, indirect immune electron microscopy studies, and autometallographic studies...
March 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29121734/desmoplakin-highlights-on-a-left-ventricular-arrhythmogenic-disorder
#16
EDITORIAL
Adalena Tsatsopoulou
No abstract text is available yet for this article.
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29066275/the-spectrum-of-manifestations-in-dsp-desmoplakin-sr6-domain-mutations-immunophenotyping-and-response-to-ustekinumab
#17
Amy S Paller, Tali Czarnowicki, Yael Renert-Yuval, Kristen Holland, Thy Huynh, Muriel Sadlier, Maeve A McAleer, Gary Tran, Gabrielle C Geddes, Alan D Irvine, Emma Guttman-Yassky
BACKGROUND: The immune abnormalities underlying the ichthyoses are poorly understood. OBJECTIVE: To determine the immunophenotype of an ichthyosis resulting from mutations in the spectrin repeat 6 (SR6) domain of DSP, the gene encoding desmoplakin, and to target therapy based on the molecular pathogenesis. METHODS: Immunophenotyping was performed using the blood and skin of a girl with SR6 region DSP mutations causing erythroderma/ichthyosis and cardiomyopathy...
October 21, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29066090/genetic-variants-associated-with-susceptibility-to-idiopathic-pulmonary-fibrosis-in-people-of-european-ancestry-a-genome-wide-association-study
#18
Richard J Allen, Joanne Porte, Rebecca Braybrooke, Carlos Flores, Tasha E Fingerlin, Justin M Oldham, Beatriz Guillen-Guio, Shwu-Fan Ma, Tsukasa Okamoto, Alison E John, Ma'en Obeidat, Ivana V Yang, Amanda Henry, Richard B Hubbard, Vidya Navaratnam, Gauri Saini, Norma Thompson, Helen L Booth, Simon P Hart, Mike R Hill, Nik Hirani, Toby M Maher, Robin J McAnulty, Ann B Millar, Philip L Molyneaux, Helen Parfrey, Doris M Rassl, Moira K B Whyte, William A Fahy, Richard P Marshall, Eunice Oballa, Yohan Bossé, David C Nickle, Don D Sin, Wim Timens, Nick Shrine, Ian Sayers, Ian P Hall, Imre Noth, David A Schwartz, Martin D Tobin, Louise V Wain, R Gisli Jenkins
BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a chronic progressive lung disease with high mortality, uncertain cause, and few treatment options. Studies have identified a significant genetic risk associated with the development of IPF; however, mechanisms by which genetic risk factors promote IPF remain unclear. We aimed to identify genetic variants associated with IPF susceptibility and provide mechanistic insight using gene and protein expression analyses. METHODS: We used a two-stage approach: a genome-wide association study in patients with IPF of European ancestry recruited from nine different centres in the UK and controls selected from UK Biobank (stage 1) matched for age, sex, and smoking status; and a follow-up of associated genetic variants in independent datasets of patients with IPF and controls from two independent US samples from the Chicago consortium and the Colorado consortium (stage 2)...
November 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/29034528/patients-with-a-new-variant-of-endemic-pemphigus-foliaceus-have-autoantibodies-against-arrector-pili-muscle-colocalizing-with-myzap-p0071-desmoplakins-1-and-2-and-arvcf
#19
A M Abreu-Velez, C A Valencia-Yepes, Y A Upegui-Zapata, E Upegui-Quiceno, N R Mesa-Herrera, J E Velazquez-Velez, M S Howard
BACKGROUND: We identified a new variant of endemic pemphigus foliaceus in El Bagre, Colombia, South America, which we term El Bagre-EPF, and observed reactivity to arrector pili muscle (APM), thus we tested for autoimmunity to APM. METHODS: We took skin biopsies from 30 patients with El Bagre-EPF and 30 healthy controls (HCs) matched by age, sex and occupation, who were all from the endemic area, and tested these using direct immunofluorescence (DIF), confocal microscopy, immunohistochemistry and immunoblotting (IB)...
October 15, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29018034/distinct-cellular-basis-for-early-cardiac-arrhythmias-the-cardinal-manifestation-of-arrhythmogenic-cardiomyopathy-and-the-skin-phenotype-of-cardiocutaneous-syndromes
#20
Jennifer Karmouch, Qiong Q Zhou, Christina Y Miyake, Raffaella Lombardi, Kai Kretzschmar, Marie Bannier-Hélaouët, Hans Clevers, Xander H T Wehrens, James T Willerson, Ali J Marian
RATIONALE: Arrhythmogenic cardiomyopathy is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP (desmoplakin) and JUP (junction protein plakoglobin) mutations are responsible for a subset of patients with arrhythmogenic cardiomyopathy who exhibit cardiac arrhythmias and dysfunction, palmoplanter keratosis, and hair abnormalities (cardiocutaneous syndromes)...
December 8, 2017: Circulation Research
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