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https://www.readbyqxmd.com/read/28527814/desmoplakin-missense-and-non-missense-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy-genotype-phenotype-correlation
#1
Silvia Castelletti, Annina S Vischer, Petros Syrris, Lia Crotti, Carla Spazzolini, Alice Ghidoni, Gianfranco Parati, Sharon Jenkins, Maria-Christina Kotta, William J McKenna, Peter J Schwartz, Antonis Pantazis
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC. METHODS AND RESULTS: We analyzed 27 ARVC patients carrying a missense or a non-missense DSP mutation, with complete clinical assessment...
May 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28523642/autosomal-recessive-nonsyndromic-arrhythmogenic-right-ventricular-cardiomyopathy-without-cutaneous-involvements-a-novel-mutation
#2
Mahdieh Soveizi, Bahareh Rabbani, Yousef Rezaei, Sedigheh Saedi, Nasim Najafi, Majid Maleki, Nejat Mahdieh
The arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic disease frequently associated with desmosomal mutations, mainly attributed to dominant mutations in the Plakophilin-2 (PKP2) gene. Naxos and Carvajal are the syndromic forms of ARVD/C due to recessive mutations. Herein, we report an autosomal recessive form of nonsyndromic ARVD/C caused by a mutation in the PKP2 gene. After examination and implementation of diagnostic modalities, the definite diagnosis of ARVD/C was confirmed by detection of ventricular tachycardia with a left bundle branch configuration and a superior axis, T-wave inversion in right precordial leads (i...
May 19, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28507225/phosphorylation-of-pkp1-by-ripk4-regulates-epidermal-differentiation-and-skin-tumorigenesis
#3
Philbert Lee, Shangwen Jiang, Yuanyuan Li, Jiping Yue, Xuewen Gou, Shao-Yu Chen, Yingming Zhao, Markus Schober, Minjia Tan, Xiaoyang Wu
Tissue homeostasis of skin is sustained by epidermal progenitor cells localized within the basal layer of the skin epithelium. Post-translational modification of the proteome, such as protein phosphorylation, plays a fundamental role in the regulation of stemness and differentiation of somatic stem cells. However, it remains unclear how phosphoproteomic changes occur and contribute to epidermal differentiation. In this study, we survey the epidermal cell differentiation in a systematic manner by combining quantitative phosphoproteomics with mammalian kinome cDNA library screen...
May 15, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28504961/wnt-%C3%AE-catenin-pathway-in-arrhythmogenic-cardiomyopathy
#4
REVIEW
Alessandra Lorenzon, Martina Calore, Giulia Poloni, Leon J De Windt, Paola Braghetta, Alessandra Rampazzo
Wnt/β-catenin signaling pathway plays essential roles in heart development as well as cardiac tissue homoeostasis in adults. Abnormal regulation of this signaling pathway is linked to a variety of cardiac disease conditions, including hypertrophy, fibrosis, arrhythmias, and infarction. Recent studies on genetically modified cellular and animal models document a crucial role of Wnt/β-catenin signaling in the molecular pathogenesis of arrhythmogenic cardiomyopathy (AC), an inherited disease of intercalated discs, typically characterized by ventricular arrhythmias and progressive substitution of the myocardium with fibrofatty tissue...
April 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28495795/the-desmoplakin-intermediate-filament-linkage-regulates-cell-mechanics
#5
Joshua A Broussard, Ruiguo Yang, Changjin Huang, S Shiva P Nathamgari, Allison M Beese, Lisa M Godsel, Sherry Lee, Fan Zhou, Nathan J Sniadecki, Kathleen J Green, Horacio D Espinosa
The translation of mechanical forces into biochemical signals plays a central role in guiding normal physiological processes during tissue development and homeostasis. Interfering with this process contributes to cardiovascular disease, cancer progression, and inherited disorders. The actin-based cytoskeleton and its associated adherens junctions are well-established contributors to mechanosensing and transduction machinery; however, the role of the desmosome/intermediate filament network is poorly understood in this context...
May 11, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28493289/intestinal-epithelial-claudins-expression-and-regulation-in-homeostasis-and-inflammation
#6
REVIEW
Vicky Garcia-Hernandez, Miguel Quiros, Asma Nusrat
The intestinal epithelium forms a highly dynamic and selective barrier that controls absorption of fluid and solutes while restricting pathogen access to underlying tissues. Barrier properties are achieved by intercellular junctions that include an apical tight junction (TJ) and subjacent adherens junctions and desmosomes. The TJ tetraspan claudin proteins form pores between epithelial cells to control paracellular fluid and ion movement. In addition to regulation of barrier function, claudin family members control epithelial homeostasis and are expressed in a spatiotemporal manner in the intestinal crypt-luminal axis...
May 10, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28492232/pemphigus
#7
REVIEW
Michael Kasperkiewicz, Christoph T Ellebrecht, Hayato Takahashi, Jun Yamagami, Detlef Zillikens, Aimee S Payne, Masayuki Amagai
Pemphigus is a group of IgG-mediated autoimmune diseases of stratified squamous epithelia, such as the skin and oral mucosa, in which acantholysis (the loss of cell adhesion) causes blisters and erosions. Pemphigus has three major subtypes: pemphigus vulgaris, pemphigus foliaceus and paraneoplastic pemphigus. IgG autoantibodies are characteristically raised against desmoglein 1 and desmoglein 3, which are cell-cell adhesion molecules found in desmosomes. The sites of blister formation can be physiologically explained by the anti-desmoglein autoantibody profile and tissue-specific expression pattern of desmoglein isoforms...
May 11, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28469076/stat3-regulates-desmoglein-3-transcription-in-epithelial-keratinocytes
#8
Xuming Mao, Michael Jeffrey T Cho, Christoph T Ellebrecht, Eric M Mukherjee, Aimee S Payne
Pemphigus vulgaris (PV) is an epithelial blistering disease caused by autoantibodies to the desmosomal cadherin desmoglein 3 (DSG3). Glucocorticoids improve disease within days by increasing DSG3 gene transcription, although the mechanism for this observation remains unknown. Here, we show that DSG3 transcription in keratinocytes is regulated by Stat3. Treatment of primary human keratinocytes (PHKs) with hydrocortisone or rapamycin, but not the p38 MAPK inhibitor SB202190, significantly increases DSG3 mRNA and protein expression and correspondingly reduces phospho-S727 Stat3...
May 4, 2017: JCI Insight
https://www.readbyqxmd.com/read/28454914/genetic-and-epigenetic-regulation-of-arrhythmogenic-cardiomyopathy
#9
REVIEW
Stefan Mazurek, Gene H Kim
Arrhythmogenic cardiomyopathy (AC) is most commonly characterized as a disease of the intercalated disc that promotes abnormal cardiac conduction. Previously, arrhythmogenic cardiomyopathy was frequently referred to as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D); however, genotype-phenotype studies have defined a broader phenotypic spectrum; with the identification of left-dominant and biventricular subtypes. Molecular insight into AC has primarily focused on mutations in desmosomal proteins and the downstream signaling pathways; however, desmosomal gene mutations can only be identified in approximately fifty percent of patients with AC...
April 25, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#10
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28442050/lonidamine-ethyl-ester-mediated-remodelling-of-the-sertoli-cell-cytoskeleton-induces-phosphorylation-of-plakoglobin-and-promotes-its-interaction-with-%C3%AE-catenin-at-the-blood-testis-barrier
#11
Dolores D Mruk, Michele Bonanomi, Bruno Silvestrini
Several compounds affect male fertility by disrupting the adhesion of germ cells to Sertoli cells, which results in the release of undeveloped germ cells into the seminiferous tubule lumen that are incapable of fertilising the ovum. Indazole carboxylic acids are one class of compounds exhibiting such effects and they have been investigated as non-hormonal contraceptives for potential human use. The aims of this study were to investigate the effects of lonidamine-ethyl ester, an indazole carboxylic acid, on spermatogenesis and cell junctions, in particular, desmosomes...
April 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28438789/desmoglein-2-modulates-extracellular-vesicle-release-from-squamous-cell-carcinoma-keratinocytes
#12
Andrew M Overmiller, Jennifer A Pierluissi, Peter J Wermuth, Sami Sauma, Ubaldo Martinez-Outschoorn, Madalina Tuluc, Adam Luginbuhl, Joseph Curry, Larry A Harshyne, James K Wahl, Andrew P South, Mỹ G Mahoney
Extracellular vesicles (EVs) are nanoscale membrane-derived vesicles that serve as intercellular messengers carrying lipids, proteins, and genetic material. Substantial evidence has shown that cancer-derived EVs, secreted by tumor cells into the blood and other bodily fluids, play a critical role in modulating the tumor microenvironment and affecting the pathogenesis of cancer. Here we demonstrate for the first time that squamous cell carcinoma (SCC) EVs were enriched with the C-terminal fragment of desmoglein 2 (Dsg2), a desmosomal cadherin often overexpressed in malignancies...
April 24, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28431057/quantitative-analysis-of-pkp2-and-neighbouring-genes-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-heterozygous-pkp2-deletion
#13
Keiko Sonoda, Seiko Ohno, Sou Otuki, Koichi Kato, Nobue Yagihara, Hiroshi Watanabe, Takeru Makiyama, Tohru Minamino, Minoru Horie
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients. Methods and Results: The study cohort consisted of 71 ARVC probands who were diagnosed as definite or borderline cases based on 2010 Task Force Criteria...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28431055/electrocardiographic-differentiation-of-idiopathic-right-ventricular-outflow-tract-ectopy-from-early-arrhythmogenic-right-ventricular-cardiomyopathy
#14
Jan Novak, Alessandro Zorzi, Silvia Castelletti, Antonis Pantasis, Ilaria Rigato, Domenico Corrado, William Mckenna, Pier D Lambiase
Aims: The differentiation between idiopathic right ventricular outflow tract (RVOT) arrhythmias and early arrhythmogenic right ventricular cardiomyopathy (ARVC) can be challenging. We aimed to assess whether QRS morphological features and coupling interval of ventricular ectopic beats (VEBs) can improve differentiation between the two conditions. Methods and Results: Twenty desmosomal-gene mutation carriers (13 females, mean age 43 years) with no or mild ARVC phenotypic expression and 33 age- and sex-matched subjects with idiopathic RVOT arrhythmias were studied...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28416759/beyond-cell-cell-adhesion-plakoglobin-and-the-regulation-of-tumorigenesis-and-metastasis
#15
REVIEW
Zackie Aktary, Mahsa Alaee, Manijeh Pasdar
Plakoglobin (also known as γ-catenin) is a member of the Armadillo family of proteins and a paralog of β-catenin. Plakoglobin is a component of both the adherens junctions and desmosomes, and therefore plays a vital role in the regulation of cell-cell adhesion. Similar to β-catenin, plakoglobin is capable of participating in cell signaling in addition to its role in cell-cell adhesion. In this context, β-catenin has a well-documented oncogenic potential as a component of the Wnt signaling pathway. In contrast, while some studies have suggested a tumor promoting activity of plakoglobin in a cell/malignancy specific context, it generally acts as a tumor/metastasis suppressor...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28416588/association-between-mutation-status-and-left-ventricular-reverse-remodelling-in-dilated-cardiomyopathy
#16
Matteo Dal Ferro, Davide Stolfo, Alessandro Altinier, Marta Gigli, Martina Perrieri, Federica Ramani, Giulia Barbati, Alberto Pivetta, Francesca Brun, Lorenzo Monserrat, Mauro Giacca, Luisa Mestroni, Marco Merlo, Gianfranco Sinagra
OBJECTIVE: To explore the genetic landscape of a well selected dilated cardiomyopathy (DCM) cohort, assessing the possible relation between different genotypes and left ventricular reverse remodelling (LVRR). METHODS: A cohort of 152 patients with DCM from the Heart Muscle Disease Registry of Trieste has been studied by next-generation sequencing (NGS). Patients were grouped into different 'gene-clusters' with functionally homogeneous genetic backgrounds. LVRR was defined by left ventricular ejection fraction normalisation or increase ≥10% associated with normalisation in indexed left ventricular end-diastolic diameter or relative decrease ≥10% at 24 months follow-up...
April 17, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28407837/-effects-of-embryonic-lead-exposure-on-food-intake-and-bowel-movement-in-offspring-rats-and-possible-mechanisms
#17
Jian-Ping Zhou, Fan Wang, Xiao-Qing Yi, Xue-Ying Wang, Yong-Sheng Jiang, Yan Geng, Jing-Jing Wang
OBJECTIVE: To study the effects of embryonic lead exposure on food intake and bowel movement in offspring rats and possible mechanisms. METHODS: Sprague-Dawley rats were given 0.1% (low-dose lead exposure group) or 0.2% (high-dose lead exposure group) lead acetate freely during pregnancy to establish an animal model of embryonic lead exposure. A blank control group was also established. The male offspring rats were enrolled in the study, and 10 male offspring rats from each group were selected to observe the changes in food intake, bowel movement, gastric emptying, intestine propulsion, and pathological inflammatory response in the gastric mucosa...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28386956/comparison-of-cellular-location-and-expression-of-plakophilin-2-in-epidermal-cells-from-nonlesional-atopic-skin-and-healthy-skin-in-german-shepherd-dogs
#18
Brita Ardesjö-Lundgren, Katarina Tengvall, Kerstin Bergvall, Fabiana H G Farias, Liya Wang, Åke Hedhammar, Kerstin Lindblad-Toh, Göran Andersson
BACKGROUND: Canine atopic dermatitis (CAD) is an inflammatory and pruritic allergic skin disease caused by interactions between genetic and environmental factors. Previously, a genome-wide significant risk locus on canine chromosome 27 for CAD was identified in German shepherd dogs (GSDs) and Plakophilin-2 (PKP2) was defined as the top candidate gene. PKP2 constitutes a crucial component of desmosomes and also is important in signalling, metabolic and transcriptional activities. OBJECTIVES: The main objective was to evaluate the role of PKP2 in CAD by investigating PKP2 expression and desmosome structure in nonlesional skin from CAD-affected (carrying the top GWAS SNP risk allele) and healthy GSDs...
April 6, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28373753/upregulation-of-kazrin-f-by-mir-186-suppresses-apoptosis-but-promotes-epithelial-mesenchymal-transition-to-contribute-to-malignancy-in-human-cervical-cancer-cells
#19
Chang Liu, Jinghua Wang, Yang Hu, Hong Xie, Min Liu, Hua Tang
OBJECTIVE: Previous studies have identified that kazrin is a constituent of desmosome and influences intercellular adhesion, growing development and morphology. We previously cloned another new isoform, kazrin F and found that it has anti-apoptotic effects on human glioma cell line. To further explore whether kazrin F is involved in tumorigenesis, we investigated its expression and role in cervical cancer (CC) cells. METHODS: The role of kazrin F and miR-186 in CC was determined by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, colony formation, transwell, and apoptosis assays...
February 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/28365402/distinct-fibrosis-pattern-in-desmosomal-and-phospholamban-mutation-carriers-in-hereditary-cardiomyopathies
#20
Shahrzad Sepehrkhouy, Johannes M I H Gho, René van Es, Magdalena Harakalova, Nicolaas de Jonge, Dennis Dooijes, Jasper J van der Smagt, Marc P Buijsrogge, Richard N W Hauer, Roel Goldschmeding, Roel A de Weger, Folkert W Asselbergs, Aryan Vink
BACKGROUND: Desmosomal and phospholamban (PLN) mutations are associated with arrhythmogenic cardiomyopathy. Ultimately, most cardiomyopathy hearts develop significant cardiac fibrosis. OBJECTIVE: To compare the fibrosis patterns of desmosomal and p. Arg14del PLN associated cardiomyopathies with the pattern in hearts with other hereditary cardiomyopathies. METHODS: A mid-ventricular transversal slice was obtained from hearts of 30 patients with a cardiomyopathy with a known underlying mutation, and from 8 controls...
March 29, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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