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Desmosome

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https://www.readbyqxmd.com/read/28810874/sudden-cardiac-death-focus-on-the-genetics-of-channelopathies-and-cardiomyopathies
#1
REVIEW
Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso, Santo Gratteri
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope...
August 15, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28810297/-clinical-and-pathologic-features-of-extrapleural-sarcomatoid-mesothelioma
#2
M C Wei, S J Yang
Objective: To investigate the morphological features, diagnosis and differential diagnosis of extrapleural sarcomatoid malignant mesothelioma (SMM). Methods: Six cases of extrapleural SMM were evaluated for their clinical, histological, immunohistochemical features, and prognosis. Results: Patients included 3 men and 3 women, with a median age of 60 years (range 41-75 years). All patients had no asbestos exposure in history and no pleural lesions. The tumors involved peritoneum (3 cases), bone (2 cases), and neck soft tissue (1 case)...
August 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28767663/contribution-of-exome-sequencing-for-genetic-diagnostic-in-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia
#3
Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch
BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2. The genetic cause remains unknown in ~50% of probands with routine desmosomal gene screening. The aim of this study was to assess the diagnostic accuracy of whole exome sequencing (WES) in ARVC/D with negative genetic testing. METHODS: WES was performed in 22 patients, all without a mutation identified in desmosomal genes...
2017: PloS One
https://www.readbyqxmd.com/read/28764973/disturbed-desmoglein-2-in-the-intercalated-disc-of-pediatric-patients-with-dilated-cardiomyopathy
#4
Elise L Kessler, Peter Gj Nikkels, Toon Ab van Veen
Dilated cardiomyopathy (DCM) leads to disturbed contraction and force transduction, and is associated with substantial mortality in all age groups. Involvement of a disrupted composition of the intercalated disc (ID) has been reported. However, in children, little is established about such subcellular changes during disease, because of the pathological mix-up with the ongoing cardiac maturation. This leaves maladaptive remodeling often undetected. We aimed at illustrating subcellular alterations in children diagnosed with DCM compared to age-matched controls, focusing on ID proteins known to be crucially stable under healthy conditions and destabilized during cardiac injury in adults...
July 29, 2017: Human Pathology
https://www.readbyqxmd.com/read/28757265/pathophysiology-of-eosinophilic-esophagitis
#5
Kelly M O'Shea, Seema S Aceves, Evan S Dellon, Sandeep K Gupta, Jonathan M Spergel, Glenn T Furuta, Marc E Rothenberg
Eosinophilic esophagitis (EoE) is an emerging disease that is distinguished from gastroesophageal reflux disease (GERD) by the expression of a unique esophageal transcriptome and the interplay of early life environmental factors with distinct genetic susceptibility elements at 5q22 (TSLP) and 2p23 (CAPN14). Rare genetic syndromes have uncovered the contribution of barrier disruption, mediated in part by defective desmosomes and dysregulated transforming factor beta (TGF-β) production and signaling, to EoE pathophysiology...
July 27, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28740231/desmoglein-2-regulates-the-intestinal-epithelial-barrier-via-p38-mitogen-activated-protein-kinase
#6
Hanna Ungewiß, Franziska Vielmuth, Shintaro T Suzuki, Andreas Maiser, Hartmann Harz, Heinrich Leonhardt, Daniela Kugelmann, Nicolas Schlegel, Jens Waschke
Intestinal epithelial barrier properties are maintained by a junctional complex consisting of tight junctions (TJ), adherens junctions (AJ) and desmosomes. Desmoglein 2 (Dsg2), an adhesion molecule of desmosomes and the only Dsg isoform expressed in enterocytes, is required for epithelial barrier properties and may contribute to barrier defects in Crohn's disease. Here, we identified extradesmosomal Dsg2 on the surface of polarized enterocytes by Triton extraction, confocal microscopy, SIM and STED. Atomic force microscopy (AFM) revealed Dsg2-specific binding events along the cell border on the surface of enterocytes with a mean unbinding force of around 30pN...
July 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28740174/plakophilin-2-is-required-for-transcription-of-genes-that-control-calcium-cycling-and-cardiac-rhythm
#7
Marina Cerrone, Jerome Montnach, Xianming Lin, Yan-Ting Zhao, Mingliang Zhang, Esperanza Agullo-Pascual, Alejandra Leo-Macias, Francisco J Alvarado, Igor Dolgalev, Thomas V Karathanos, Kabir Malkani, Chantal J M Van Opbergen, Joanne J A van Bavel, Hua-Qian Yang, Carolina Vasquez, David Tester, Steven Fowler, Fengxia Liang, Eli Rothenberg, Adriana Heguy, Gregory E Morley, William A Coetzee, Natalia A Trayanova, Michael J Ackerman, Toon A B van Veen, Hector H Valdivia, Mario Delmar
Plakophilin-2 (PKP2) is a component of the desmosome and known for its role in cell-cell adhesion. Mutations in human PKP2 associate with a life-threatening arrhythmogenic cardiomyopathy, often of right ventricular predominance. Here, we use a range of state-of-the-art methods and a cardiomyocyte-specific, tamoxifen-activated, PKP2 knockout mouse to demonstrate that in addition to its role in cell adhesion, PKP2 is necessary to maintain transcription of genes that control intracellular calcium cycling. Lack of PKP2 reduces expression of Ryr2 (coding for Ryanodine Receptor 2), Ank2 (coding for Ankyrin-B), Cacna1c (coding for CaV1...
July 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28706505/cell-cell-interaction-proteins-gap-junctions-tight-junctions-and-desmosomes-and-water-transporter-aquaporin-4-in-meningothelial-cells-of-the-human-optic-nerve
#8
Thi Ngoc Co Zeleny, Corina Kohler, Albert Neutzner, Hanspeter E Killer, Peter Meyer
PURPOSE: Meningothelial cells (MECs) play a central role in the maintenance of cerebrospinal fluid (CSF) homeostasis and in physiological and pathophysiological processes within the subarachnoid space (SAS) linking them to optic nerve (ON) pathologies. Still, not much is known about their structural properties that might enable MECs to perform specific functions within the ON microenvironment. METHODS: For closer characterization of the structural properties of the human MEC layer in the arachnoid, we performed immunohistological analyses to evaluate the presence of cell-cell interaction markers, namely, markers for tight junctions (JAM1, Occludin, and Claudin 5), gap junctions (Connexin 26 and 43), and desmosomes (Desmoplakin) as well as for water channel marker aquaporin 4 (AQP4) in retrobulbar, midorbital, and intracanalicular human ON sections...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28703223/unmasking-the-molecular-link-between-arrhythmogenic-cardiomyopathy-and-brugada-syndrome
#9
REVIEW
Javier Moncayo-Arlandi, Ramon Brugada
The intercalated discs that connect cardiomyocytes control cell-to-cell adhesion and communication. Several macromolecular structures (desmosomes, fascia adherens junctions, gap junctions, and sodium-channel complexes) coexist in, and confer their mechanical and electrical properties to, the intercalated disc. Traditionally, each structure was assumed to have a unique function in the intercalated disc. However, growing evidence suggests that these complexes act together in intercellular communication and adhesion, forming a single structural and functional entity - the connexome...
July 13, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28688053/animal-models-of-arrhythmogenic-right-ventricular-cardiomyopathy-what-have-we-learned-and-where-do-we-go-insight-for-therapeutics
#10
REVIEW
Laura Padrón-Barthe, Fernando Domínguez, Pablo Garcia-Pavia, Enrique Lara-Pezzi
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetically-determined cardiac heart muscle disorder characterized by fibro-fatty replacement of the myocardium that results in heart failure and sudden cardiac death (SCD), predominantly in young males. The disease is often caused by mutations in genes encoding proteins of the desmosomal complex, with a significant minority caused by mutations in non-desmosomal proteins. Existing treatment options are based on SCD prevention with the implantable cardioverter defibrillator, antiarrhythmic drugs, and anti-heart failure medication...
September 2017: Basic Research in Cardiology
https://www.readbyqxmd.com/read/28684609/single-and-collective-cell-migration-the-mechanics-of-adhesions
#11
Chiara De Pascalis, Sandrine Etienne-Manneville
Chemical and physical properties of the environment control cell proliferation, differentiation, or apoptosis in the long term. However, to be able to move and migrate through a complex three-dimensional environment, cells must quickly adapt in the short term to the physical properties of their surroundings. Interactions with the extracellular matrix (ECM) occur through focal adhesions or hemidesmosomes via the engagement of integrins with fibrillar ECM proteins. Cells also interact with their neighbors, and this involves various types of intercellular adhesive structures such as tight junctions, cadherin-based adherens junctions, and desmosomes...
July 7, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28679668/cell-models-of-arrhythmogenic-cardiomyopathy-advances-and-opportunities
#12
REVIEW
Elena Sommariva, Ilaria Stadiotti, Gianluca L Perrucci, Claudio Tondo, Giulio Pompilio
Arrhythmogenic cardiomyopathy is a rare genetic disease that is mostly inherited as an autosomal dominant trait. It is associated predominantly with mutations in desmosomal genes and is characterized by the replacement of the ventricular myocardium with fibrous fatty deposits, arrhythmias and a high risk of sudden death. In vitro studies have contributed to our understanding of the pathogenic mechanisms underlying this disease, including its genetic determinants, as well as its cellular, signaling and molecular defects...
July 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28668272/in-vitro-construction-of-endometrial-like-epithelium-using-cd146-mesenchymal-cells-derived-from-human-endometrium
#13
Mehri Fayazi, Mojdeh Salehnia, Saeideh Ziaei
Endometrial CD146(+) cells were purified, using magnetic activated cell sorting, and then embedded and cultured in a collagen-matrigel scaffold on top of myometrial smooth muscle cells for 10 days. At the end of culture period, the differentiation and formation of the epithelial-like cells were confirmed by morphological and ultrastructural evaluations, and analysis by reverse transcription polymerase chain reaction of the specific expression of genes: osteopontin (SPP1), matrix metalloproteinase 2, zonula occludens 1, laminin alpha 2 and collagen type IV; and by western blotting of CD9 protein...
September 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28656597/adherens-junctions-and-desmosomes-are-damaged-by-entamoeba-histolytica-participation-of-ehcpadh-complex-and-ehcp112-protease
#14
Elizabeth Hernández-Nava, Patricia Cuellar, Porfirio Nava, Bibiana Chávez-Munguía, Michael Schnoor, Esther Orozco, Abigail Betanzos
Entamoeba histolytica trophozoites adhere to epithelium at the cell-cell contact and perturb tight junctions (TJs) disturbing the transepithelial electrical resistance. Behind TJs are the adherens junctions (AJs) that reinforce them; and the desmosomes (DSMs) that maintain the epithelium integrity. The damage produced to AJs and DMSs by this parasite is unknown. Here, we studied the effect of the trophozoites, the EhCPADH complex and the EhCP112 recombinant enzyme (rEhCP112) on AJ and DSM proteins. We found that trophozoites degraded β-cat, E-cad, Dsp l/ll and Dsg-2 with the participation of EhCPADH and EhCP112...
June 27, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28636799/transcriptional-mechanisms-coordinating-tight-junction-assembly-during-epithelial-differentiation
#15
REVIEW
Felix J Boivin, Kai M Schmidt-Ott
Epithelial tissues form a selective barrier via direct cell-cell interactions to separate and establish concentration gradients between the different compartments of the body. Proper function and formation of this barrier rely on the establishment of distinct intercellular junction complexes. These complexes include tight junctions, adherens junctions, desmosomes, and gap junctions. The tight junction is by far the most diverse junctional complex in the epithelial barrier. Its composition varies greatly across different epithelial tissues to confer various barrier properties...
June 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28620161/different-signaling-patterns-contribute-to-loss-of-keratinocyte-cohesion-dependent-on-autoantibody-profile-in-pemphigus
#16
Elias Walter, Franziska Vielmuth, Lukas Rotkopf, Miklós Sárdy, Orsolya N Horváth, Matthias Goebeler, Enno Schmidt, Rüdiger Eming, Michael Hertl, Volker Spindler, Jens Waschke
Pemphigus is an autoimmune blistering skin disease caused primarily by autoantibodies against desmoglein (Dsg)1 and 3. Here, we characterized the mechanisms engaged by pemphigus IgG from patients with different clinical phenotypes and autoantibody profiles. All pemphigus vulgaris (PV) and pemphigus foliaceus (PF) IgG and AK23, a monoclonal mouse antibody against Dsg3, caused loss of cell cohesion, cytokeratin retraction and p38MAPK activation. Strong alterations in Dsg3 distribution were caused by mucosal (aDsg3 antibodies), mucocutaneous (aDsg1 + aDsg3) as well as atypical (aDsg3) PV-IgG...
June 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28612274/fine-structure-of-the-midgut-epithelium-in-the-millipede-telodeinopus-aoutii-myriapoda-diplopoda-with-special-emphasis-on-epithelial-regeneration
#17
M M Rost-Roszkowska, M Kszuk-Jendrysik, A Marchewka, I Poprawa
The midgut of millipedes is composed of a simple epithelium that rests on a basal lamina, which is surrounded by visceral muscles and hepatic cells. As the material for our studies, we chose Telodeinopus aoutii (Demange, 1971) (Kenyan millipede) (Diplopoda, Spirostreptida), which lives in the rain forests of Central Africa. This commonly reared species is easy to obtain from local breeders and easy to culture in the laboratory. During our studies, we used transmission and scanning electron microscopes and light and fluorescent microscopes...
June 14, 2017: Protoplasma
https://www.readbyqxmd.com/read/28612126/immaturity-of-bile-canalicular-ductule-networks-in-the-future-liver-remnant-while-associating-liver-partition-and-portal-vein-occlusion-for-staged-hepatectomy-alpps
#18
Kenichi Matsuo, Yukihiko Hiroshima, Kazuto Yamazaki, Kohei Kasahara, Yutaro Kikuchi, Daisuke Kawaguchi, Takashi Murakami, Yasuo Ishida, Kuniya Tanaka
BACKGROUND: We studied histologic changes of bile canalicular-ductule networks in the future liver remnant (FLR) while associating liver partition and portal vein occlusion for staged hepatectomy (ALPPS), since little is known about regeneration of these networks during the relatively short interval between procedures in ALPPS. METHODS: Bile canalicular-ductule networks were examined in specimens from eight patients treated with ALPPS and six patients undergoing hepatectomy following portal vein embolization (PVE)...
June 13, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28600798/inhibition-of-p38mapk-signaling-prevents-epidermal-blistering-and-alterations-of-desmosome-structure-induced-by-pemphigus-autoantibodies-in-human-epidermis
#19
D T Egu, E Walter, V Spindler, J Waschke
BACKGROUND: Pemphigus vulgaris (PV) is a skin blistering disease caused by autoantibodies targeting the desmosomal adhesion proteins desmoglein (Dsg) 3 and 1. The mechanisms underlying pemphigus skin blistering are not fully elucidated but p38MAPK activation is one of the signaling events necessary for full loss of cell cohesion. However, it is unclear whether ultrastructural hallmarks of desmosome morphology as observed in patients' lesions are mediated by p38MAPK signaling. OBJECTIVE: In this study, we tested the relevance of p38MAPK for blister formation and the ultrastructural changes induced by PV autoantibodies in human skin...
June 10, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28600395/cell-cell-junctions-organize-structural-and-signaling-networks
#20
Miguel A Garcia, W James Nelson, Natalie Chavez
Cell-cell junctions link cells to each other in tissues, and regulate tissue homeostasis in critical cell processes that include tissue barrier function, cell proliferation, and migration. Defects in cell-cell junctions give rise to a wide range of tissue abnormalities that disrupt homeostasis and are common in genetic abnormalities and cancers. Here, we discuss the organization and function of cell-cell junctions primarily involved in adhesion (tight junction, adherens junction, and desmosomes) in two different epithelial tissues: a simple epithelium (intestine) and a stratified epithelium (epidermis)...
June 9, 2017: Cold Spring Harbor Perspectives in Biology
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