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Desmoplakin

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https://www.readbyqxmd.com/read/29607617/a-novel-heterozygous-missense-mutation-of-dsp-in-a-chinese-han-pedigree-with-palmoplantar-keratoderma
#1
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
#2
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
#3
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...
February 27, 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
#4
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
#5
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
#6
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
#7
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
#8
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...
December 20, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/29202574/effect-of-biostimulation-on-oral-fibroblast-a-pilot-study
#9
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
#10
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
#11
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...
November 20, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29121734/desmoplakin-highlights-on-a-left-ventricular-arrhythmogenic-disorder
#12
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
#13
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
#14
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
#15
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
#16
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
https://www.readbyqxmd.com/read/28934278/intercalated-disc-in-failing-hearts-from-patients-with-dilated-cardiomyopathy-its-role-in-the-depressed-left-ventricular-function
#17
Ana Ortega, Estefanía Tarazón, Carolina Gil-Cayuela, María García-Manzanares, Luis Martínez-Dolz, Francisca Lago, José Ramón González-Juanatey, Juan Cinca, Esther Jorge, Manuel Portolés, Esther Roselló-Lletí, Miguel Rivera
Alterations in myocardial structure and reduced cardiomyocyte adhesions have been previously described in dilated cardiomyopathy (DCM). We studied the transcriptome of cell adhesion molecules in these patients and their relationships with left ventricular (LV) function decay. We also visualized the intercalated disc (ID) structure and organization. The transcriptomic profile of 23 explanted LV samples was analyzed using RNA-sequencing (13 DCM, 10 control [CNT]), focusing on cell adhesion genes. Electron microscopy analysis to visualize ID structural differences and immunohistochemistry experiments of ID proteins was also performed...
2017: PloS One
https://www.readbyqxmd.com/read/28916774/the-mechano-sensing-role-of-the-unique-sh3-insertion-in-plakin-domains-revealed-by-molecular-dynamics-simulations
#18
Csaba Daday, Katra Kolšek, Frauke Gräter
The plakin family of proteins, important actors in cross-linking force-bearing structures in the cell, contain a curious SH3 domain insertion in their chain of spectrin repeats (SRs). While SH3 domains are known to mediate protein-protein interactions, here, its canonical binding site is autoinhibited by the preceding SR. Under force, however, this SH3 domain could be released, and possibly launch a signaling cascade. We performed large-scale force-probe molecular dynamics simulations, across two orders of magnitude of loading rates, to test this hypothesis, on two prominent members of the plakin family: desmoplakin and plectin, obligate proteins at desmosomes and hemidesmosomes, respectively...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28891468/epidermal-growth-factor-receptor-neddylation-is-regulated-by-a-desmosomal-cop9-constitutive-photomorphogenesis-9-signalosome-complex
#19
Nicole Ann Najor, Gillian Nicole Fitz, Jennifer Leigh Koetsier, Lisa Marie Godsel, Lauren Veronica Albrecht, Robert Harmon, Kathleen Janee Green
Cell junctions are scaffolds that integrate mechanical and chemical signaling. We previously showed that a desmosomal cadherin promotes keratinocyte differentiation in an adhesion-independent manner by dampening Epidermal Growth Factor Receptor (EGFR) activity. Here we identify a potential mechanism by which desmosomes assist the de-neddylating COP9 signalosome (CSN) in attenuating EGFR through an association between the Cops3 subunit of the CSN and desmosomal components, Desmoglein1 (Dsg1) and Desmoplakin (Dp), to promote epidermal differentiation...
September 11, 2017: ELife
https://www.readbyqxmd.com/read/28827800/hspb7-prevents-cardiac-conduction-system-defect-through-maintaining-intercalated-disc-integrity
#20
Wern-Chir Liao, Liang-Yi Juo, Yen-Ling Shih, Yen-Hui Chen, Yu-Ting Yan
HSPB7 is a member of the small heat-shock protein (HSPB) family and is expressed in the cardiomyocytes from cardiogenesis onwards. A dramatic increase in HSPB7 is detected in the heart and blood plasma immediately after myocardial infarction. Additionally, several single-nucleotide polymorphisms of HSPB7 have been identified to be associated with heart failure caused by cardiomyopathy in human patients. Although a recent study has shown that HSPB7 is required for maintaining myofiber structure in skeletal muscle, its molecular and physiological functions in the heart remain unclear...
August 2017: PLoS Genetics
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