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J Vila, R Pariaut, N S Moïse, E M Oxford, P R Fox, C A Reynolds, C Saelinger
OBJECTIVE: To investigate the expression and distribution of desmosomal and gap junction proteins of the intercalated disc in the atria of boxers with arrhythmogenic right ventricular cardiomyopathy (ARVC). ANIMALS: Nineteen control dogs and 13 boxers with histopathologically confirmed ARVC. METHODS: Right and left atrial samples were examined using immunofluorescence and Western blots. The intercalated disc proteins investigated included total and phosphorylated connexin43 (Cx43 and pCx43), connexin45, connexin40, plakoglobin, plakophilin-2, desmoplakin, and N-cadherin...
October 18, 2016: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
Marta Wieczorek, Annette Czernik
Paraneoplastic pemphigus (PNP) is a fatal autoimmune blistering disease associated with an underlying malignancy. It is a newly recognized blistering disease, which was first recognized in 1990 by Dr Anhalt who described an atypical pemphigus with associated neoplasia. In 2001, Nguyen proposed the term paraneoplastic autoimmune multiorgan syndrome because of the recognition that the condition affects multiple organ systems. PNP presents most frequently between 45 and 70 years old, but it also occurs in children and adolescents...
2016: Clinical, Cosmetic and Investigational Dermatology
Bogna Foss-Nieradko, Maria Franaszczyk, Mateusz Śpiewak, Artur Oręziak, Rafał Płoski, Zofia T Bilińska
No abstract text is available yet for this article.
September 27, 2016: Polskie Archiwum Medycyny Wewnętrznej
Lei Zhang, Michael Ferreyros, Weiguo Feng, Melanie Hupe, Debra A Crumrine, Jiang Chen, Peter M Elias, Walter M Holleran, Lee Niswander, Daniel Hohl, Trevor Williams, Enrique C Torchia, Dennis R Roop
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models of Harlequin Ichthyosis. Characterization of smsk mutant skin showed that the delivery of glucosylceramides and CORNEODESMOSIN was defective, while ultrastructural analysis revealed abnormal lamellar bodies and the absence of lipid lamellae in smsk epidermis...
2016: PloS One
Sara N Stahley, Emily I Bartle, Claire E Atkinson, Andrew P Kowalczyk, Alexa L Mattheyses
Desmosomes are macromolecular junctions responsible for providing strong cell-cell adhesion. Because of their size and molecular complexity, the precise ultrastructural organization of desmosomes is challenging to study. Here, we used direct stochastic optical reconstruction microscopy (dSTORM) to resolve individual plaque pairs for inner and outer dense plaque proteins. Analysis methods based on desmosomal mirror symmetry were developed to measure plaque-to-plaque distances and create an integrated map. We quantified the organization of desmoglein 3, plakoglobin and desmoplakin (N-terminal, rod and C-terminal domains) in primary human keratinocytes...
August 1, 2016: Journal of Cell Science
Sharada Sawant, Harsh Dongre, Archana Kumari Singh, Shriya Joshi, Daniela Elena Costea, Snehal Mahadik, Chetan Ahire, Vidhi Makani, Prerana Dange, Shilpi Sharma, Devendra Chaukar, Milind Vaidya
To study multistep tumorigenesis process, there is a need of in-vitro 3D model simulating in-vivo tissue. Present study aimed to reconstitute in-vitro tissue models comprising various stages of neoplastic progression of tongue tumorigenesis and to evaluate the utility of these models to investigate the role of stromal fibroblasts in maintenance of desmosomal anchoring junctions using transmission electron microscopy. We reconstituted in-vitro models representing normal, dysplastic, and malignant tissues by seeding primary keratinocytes on either fibroblast embedded in collagen matrix or plain collagen matrix in growth factor-free medium...
2016: PloS One
Ewa Stypczyńska, Waldemar Placek, Barbara Zegarska, Rafał Czajkowski
Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C)...
June 2016: Acta Dermatovenerologica Croatica: ADC
A Avantaggiato, M Andreasi Bassi, F Cura, M Pascali, F Carinci
Radiofrequency machines for medical use are known to produce moderate clinical improvement of skin laxity without invasive procedures. Numerous equipment with different characteristics have been proposed after the introduction in 2002 of the first FDA approved device. This report is aimed to test if RF treatment is effective when performed at low frequency and low energy level. Two RF treatments were performed unilaterally 7 and 2 days before a planned eyebrow lifting surgery, with a radiofrequency device with 0...
April 2016: Journal of Biological Regulators and Homeostatic Agents
Esther Ortega, José A Manso, Rubén M Buey, Ana M Carballido, Arturo Carabias, Arnoud Sonnenberg, José M de Pereda
Plakins are large multi-domain proteins that interconnect cytoskeletal structures. Plectin is a prototypical plakin that tethers intermediate filaments to membrane-associated complexes. Most plakins contain a plakin domain formed by up to nine spectrin repeats (SR1-SR9) and an SH3 domain. The plakin domains of plectin and other plakins harbor binding sites for junctional proteins. We have combined x-ray crystallography with small angle x-ray scattering (SAXS) to elucidate the structure of the plakin domain of plectin, extending our previous analysis of the SR1 to SR5 region...
September 2, 2016: Journal of Biological Chemistry
Dina Hassan, Monique Provansal, Sylvain Lehmann, Moustafa Rizk, Pacint Moez, Jerome Vialaret, Christophe Hirtz, Ayman Essa, Hussein Agamia
BACKGROUND: Multiple sclerosis (MS) is a highly heterogeneous disease affecting the central nervous system (CNS). Cerebrospinal fluid (CSF) has been preferred over other body fluids when studying this disease since it is the closest sample related to MS pathological changes. The aim of this study was to investigate differences of CSF protein expression in MS patients by two-dimensional polyacrylamide gel electrophoresis (2-DE) in order to identify candidate biomarkers with potential clinical utility...
June 2, 2016: British Journal of Biomedical Science
Charles E McAnany, Cameron Mura
Multicellular organisms consist of cells that interact via elaborate adhesion complexes. Desmosomes are membrane-associated adhesion complexes that mechanically tether the cytoskeletal intermediate filaments (IFs) between two adjacent cells, creating a network of tough connections in tissues such as skin and heart. Desmoplakin (DP) is the key desmosomal protein that binds IFs, and the DP·IF association poses a quandary: desmoplakin must stably and tightly bind IFs to maintain the structural integrity of the desmosome...
August 25, 2016: Journal of Physical Chemistry. B
Ruhong Cheng, Ming Yan, Cheng Ni, Jia Zhang, Ming Li, Zhirong Yao
Recently, homozygous mutations in the desmoglein-1 (DSG1) gene and heterozygous mutation in the desmoplakin (DSP) gene have been demonstrated to be associated with severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome (Mendelian Inheritance in Man no. 615508). We aim to identify the molecular basis for a Chinese pedigree of SAM syndrome. A Chinese pedigree of SAM syndrome was subjected to mutation detection in the DSG1 gene. Sequence analysis of the DSG1 gene and quantitative reverse transcriptase polymerase chain reaction analysis for gene expression of DSG1 using cDNA derived from the epidermis of patients and controls were both performed...
May 6, 2016: Journal of Dermatology
Raffaella Lombardi, Suet Nee Chen, Alessandra Ruggiero, Priyatansh Gurha, Grazyna Z Czernuszewicz, James T Willerson, Ali J Marian
RATIONALE: Mutations in desmosome proteins cause arrhythmogenic cardiomyopathy (AC), a disease characterized by excess myocardial fibroadipocytes. Cellular origin(s) of fibroadipocytes in AC is unknown. OBJECTIVE: To identify the cellular origin of adipocytes in AC. METHODS AND RESULTS: Human and mouse cardiac cells were depleted from myocytes and flow sorted to isolate cells expressing platelet-derived growth factor receptor-α and exclude those expressing other lineage and fibroblast markers (CD32, CD11B, CD45, Lys76, Ly(-6c) and Ly(6c), thymocyte differentiation antigen 1, and discoidin domain receptor 2)...
June 24, 2016: Circulation Research
Valeria Mezzano, Yan Liang, Adam T Wright, Robert C Lyon, Emily Pfeiffer, Michael Y Song, Yusu Gu, Nancy D Dalton, Melvin Scheinman, Kirk L Peterson, Sylvia M Evans, Steven Fowler, Marina Cerrone, Andrew D McCulloch, Farah Sheikh
AIMS: Current mechanisms driving cardiac pacemaker function have focused on ion channel and gap junction channel function, which are essential for action potential generation and propagation between pacemaker cells. However, pacemaker cells also harbour desmosomes that structurally anchor pacemaker cells to each other in tissue, but their role in pacemaker function remains unknown. METHODS AND RESULTS: To determine the role of desmosomes in pacemaker function, we generated a novel mouse model harbouring cardiac conduction-specific ablation (csKO) of the central desmosomal protein, desmoplakin (DSP) using the Hcn4-Cre-ERT2 mouse line...
August 1, 2016: Cardiovascular Research
J Reindl, J Pesek, T Krüger, S Wendler, S Nemitz, P Muckova, R Büchler, S Opitz, N Krieg, J Norgauer, H Rhode
UNLABELLED: Although several new biomarkers have been recently proposed for psoriasis (Ps) and psoriasis arthritis (PsA), nothing is known about their diagnostic sensitivity and specificity, and their routine use. We therefore searched in-depth for new biomarker candidates using a biobank with EDTA-plasma from 158 individuals, patients and healthy controls. Samples from 6 selected pairs (patients against healthy controls) were searched proteomically using a workflow of extensive and precise design that is highly comprehensive...
May 17, 2016: Journal of Proteomics
Weverton César Siqueira, Samuel Gonçalves da Cruz, Angeliki Asimaki, Jeffrey Ern Saffitz, Maria da Consolação Vieira Moreira, Geraldo Brasileiro, Luiz Otávio Savassi Rocha
We present the case of a patient who underwent cardiac transplantation with the diagnosis of idiopathic dilated cardiomyopathy. Once the explanted heart was examined, a type of granulomatous myocarditis compatible with cardiac sarcoidosis was observed. However, there was severe involvement of the right ventricle, with markedly reduced width of the muscular layer and extensive fibrofatty replacement, findings similar to the ones encountered in cases of arrhythmogenic right ventricular cardiomyopathy (ARVC). Confocal immunofluorescence analysis revealed a reduced signal for plakoglobin and desmoplakin at the cardiac intercalated disks...
October 2015: Autopsy & case reports
Adi D Dubash, Chen Y Kam, Brian A Aguado, Dipal M Patel, Mario Delmar, Lonnie D Shea, Kathleen J Green
Members of the desmosome protein family are integral components of the cardiac area composita, a mixed junctional complex responsible for electromechanical coupling between cardiomyocytes. In this study, we provide evidence that loss of the desmosomal armadillo protein Plakophilin-2 (PKP2) in cardiomyocytes elevates transforming growth factor β1 (TGF-β1) and p38 mitogen-activated protein kinase (MAPK) signaling, which together coordinate a transcriptional program that results in increased expression of profibrotic genes...
February 15, 2016: Journal of Cell Biology
Angeliki Asimaki, Alexandros Protonotarios, Cynthia A James, Stephen P Chelko, Crystal Tichnell, Brittney Murray, Adalena Tsatsopoulou, Aris Anastasakis, Anneline te Riele, André G Kléber, Daniel P Judge, Hugh Calkins, Jeffrey E Saffitz
BACKGROUND: Analysis of myocardium has revealed mechanistic insights into arrhythmogenic cardiomyopathy but cardiac samples are difficult to obtain from probands and especially from family members. To identify a potential surrogate tissue, we characterized buccal mucosa cells. METHODS AND RESULTS: Buccal cells from patients, mutation carriers, and controls were immunostained and analyzed in a blinded fashion. In additional studies, buccal cells were grown in vitro and incubated with SB216763...
February 2016: Circulation. Arrhythmia and Electrophysiology
Hyunook Kang, Thomas M Weiss, Injin Bang, William I Weis, Hee-Jung Choi
Desmoplakin (DP) is a cytoskeletal linker protein that connects the desmosomal cadherin/plakoglobin/plakophilin complex to intermediate filaments (IFs). The C-terminal region of DP (DPCT) mediates IF binding, and contains three plakin repeat domains (PRDs), termed PRD-A, PRD-B and PRD-C. Previous crystal structures of PRDs B and C revealed that each is formed by 4.5 copies of a plakin repeat (PR) and has a conserved positively charged groove on its surface. Although PRDs A and B are linked by just four amino acids, B and C are separated by a 154 residue flexible linker, which has hindered crystallographic analysis of the full DPCT...
2016: PloS One
Hee-Jung Choi, William I Weis
Desmoplakin (DP) is an obligate component of desmosomes, where it links the desmosomal cadherin/plakoglobin/plakophilin assembly to intermediate filaments. DP contains a large amino-terminal domain (DPNT) that binds to the cadherin/plakoglobin/plakophilin complex, a central coiled-coil domain that dimerizes the molecule, and a C-terminal domain (DPCT) that binds to intermediate filaments. DPNT contains a plakin domain, comprising a set of spectrin-like repeats. DPCT contains three plakin repeat domains, each formed by 4...
2016: Methods in Enzymology
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