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Plakophilin

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https://www.readbyqxmd.com/read/28523642/autosomal-recessive-nonsyndromic-arrhythmogenic-right-ventricular-cardiomyopathy-without-cutaneous-involvements-a-novel-mutation
#1
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
#2
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/28441400/a-genomics-approach-identifies-selective-effects-of-trans-resveratrol-in-cerebral-cortex-neuron-and-glia-gene-expression
#3
Gemma Navarro, Eva Martínez-Pinilla, Alejandro Sánchez-Melgar, Raquel Ortiz, Véronique Noé, Mairena Martín, Carlos Ciudad, Rafael Franco
The mode of action of trans-resveratrol, a promising lead compound for the development of neuroprotective drugs, is unknown. Data from a functional genomics study were retrieved with the aim to find differentially expressed genes that may be involved in the benefits provided by trans-resveratrol. Genes that showed a significantly different expression (p<0.05, cut-off of a two-fold change) in mice fed with a control diet or a control diet containing trans-resveratrol were different in cortex, heart and skeletal muscle...
2017: PloS One
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
#4
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/28323918/elucidating-the-role-of-the-desmosome-protein-p53-apoptosis-effector-related-to-pmp-22-perp-in-growth-hormone-tumors
#5
Katja Kiseljak-Vassiliades, Taylor S Mills, Yu Zhang, Mei Xu, Kevin O Lillehei, B K Kleinschmidt-DeMasters, Margaret E Wierman
Purpose: Densely granulated (DG) and sparsely granulated (SG) growth hormone (GH) pituitary adenomas differ in biological behavior which may be correlated with their known differences in cytoplasmic keratin distribution and E-cadherin expression. We desired to explore candidate genes which might further explain this behavior. Methods: Exon expression microarray was performed on 21 GH tumors (10 SG and 11 DG) and 20 normal control pituitaries from autopsy. Results: Bioinformatic analyses confirmed a differential molecular signature between normal pituitary and GH tumors as well as between the GH tumor subtypes...
February 9, 2017: Endocrinology
https://www.readbyqxmd.com/read/28256248/whole-exome-sequencing-identifies-a-novel-mutation-of-desmocollin-2-in-a-chinese-family-with-arrhythmogenic-right-ventricular-cardiomyopathy
#6
Ji-Shi Liu, Liang-Liang Fan, Jing-Jing Li, Rong Xiang
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin, Plakophilin 2, Desmoglein 2, Desmocollin 2, and Junction plakoglobin...
May 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28169297/comparative-influenza-protein-interactomes-identify-the-role-of-plakophilin-2-in-virus-restriction
#7
Lingyan Wang, Bishi Fu, Wenjun Li, Girish Patil, Lin Liu, Martin E Dorf, Shitao Li
Cellular protein interaction networks are integral to host defence and immune signalling pathways, which are often hijacked by viruses via protein interactions. However, the comparative virus-host protein interaction networks and how these networks control host immunity and viral infection remain to be elucidated. Here, we mapped protein interactomes between human host and several influenza A viruses (IAV). Comparative analyses of the interactomes identified common and unique interaction patterns regulating innate immunity and viral infection...
February 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28154962/expression-of-desmoglein-2-desmocollin-3-and-plakophilin-2-in-placenta-and-bone-marrow-derived-mesenchymal-stromal-cells
#8
Melanie L Hart, Elisa Rusch, Marvin Kaupp, Kay Nieselt, Wilhelm K Aicher
Many controversial results exist when comparing mesenchymal stromal cells (MSCs) derived from different sources. Reasons include not only variables in tissue origin, but also methods of cell preparation or choice of expansion media which can strongly influence the expression and hence, function of the cells. In this short report we aimed to investigate the expression of the cell anchoring proteins desmoglein 2, desmocollin 3 and plakophilin 2 in early passage placenta-derived MSCs of fetal (fetal pMSCs) and maternal (maternal pMSCs) origins versus adult bone marrow-derived MSCs (bmMSCs) that were expanded and cultured under the same good manufacturing practice (GMP) conditions...
February 2, 2017: Stem Cell Reviews
https://www.readbyqxmd.com/read/28124385/up-regulation-of-plakophilin-2-is-correlated-with-the-progression-of-glioma
#9
Degeng Zhang, Yuxia Qian, Xiaoxing Liu, Hong Yu, Niangao Zhao, Zhengdong Wu
Glioma is the most common type of primary brain tumor in the CNS. Due to its poor prognosis and high mortality rates, it is urgent to find out more effective therapies. Plakophilin-2 (PKP2) is a widespread desmosomal plaque protein. Recently, the important roles of PKP2 in the proliferation and migration of cancer cells and tumor progression has been shown. However, the expression and potential function of PKP2 in glioma was still unclear. In this study, we demonstrated that PKP2 protein expression level was increased in glioma tissues compared with normal brain tissues, and its level was significantly associated with the Ki-67 expression and WHO grade by Western blot analysis and immunohistochemistry...
January 26, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/27769725/structural-and-molecular-pathology-of%C3%A2-the%C3%A2-atrium-in-boxer-arrhythmogenic-right-ventricular-cardiomyopathy
#10
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...
February 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/27572111/influence-of-genotype-on-structural-atrial-abnormalities-and-atrial-fibrillation-or-flutter-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#11
Mimount Bourfiss, Anneline S J M Te Riele, Thomas P Mast, Maarten J Cramer, Jeroen F VAN DER Heijden, Toon A B VAN Veen, Peter Loh, Dennis Dooijes, Richard N W Hauer, Birgitta K Velthuis
INTRODUCTION: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is associated with desmosomal mutations. Although desmosomal disruption affects both ventricles and atria, little is known about atrial involvement in ARVD/C. OBJECTIVE: To describe the extent and clinical significance of structural atrial involvement and atrial arrhythmias (AA) in ARVD/C stratified by genotype. METHODS: We included 71 patients who met ARVD/C Task Force Criteria and underwent cardiac magnetic resonance (CMR) imaging and molecular genetic analysis...
December 2016: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/27477171/keratinization-disorders-and-genetic-aspects-in-palmar-and-plantar-keratodermas
#12
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
https://www.readbyqxmd.com/read/27470638/knockdown-of-plakophilin-2-downregulates-mir-184-through-cpg-hypermethylation-and-suppression-of-the-e2f1-pathway-and-leads-to-enhanced-adipogenesis-in-vitro
#13
Priyatansh Gurha, Xiaofan Chen, Raffaella Lombardi, James T Willerson, Ali J Marian
RATIONALE: PKP2, encoding plakophilin 2 (PKP2), is the most common causal gene for arrhythmogenic cardiomyopathy. OBJECTIVE: To characterize miRNA expression profile in PKP2-deficient cells. METHODS AND RESULTS: Control and PKP2-knockdown HL-1 (HL-1(Pkp2-shRNA)) cells were screened for 750 miRNAs using low-density microfluidic panels. Fifty-nine miRNAs were differentially expressed. MiR-184 was the most downregulated miRNA. Expression of miR-184 in the heart and cardiac myocyte was developmentally downregulated and was low in mature myocytes...
September 2, 2016: Circulation Research
https://www.readbyqxmd.com/read/27412010/molecular-disturbance-underlies-to-arrhythmogenic-cardiomyopathy-induced-by-transgene-content-age-and-exercise-in-a-truncated-pkp2-mouse-model
#14
Javier Moncayo-Arlandi, Eduard Guasch, Maria Sanz, Marta Casado, Nahuel Aquiles García, Lluis Mont, Marta Sitges, Ralph Knöll, Byambajav Buyandelger, Campuzano Oscar, Antonio Diez-Juan, Ramon Brugada
Arrhythmogenic cardiomyopathy (ACM) is a disorder characterized by a progressive ventricular myocardial replacement by fat and fibrosis which lead to ventricular arrhythmias and sudden cardiac death. Mutations in the desmosomal gene Plakophilin-2 (PKP2) accounts for >40% of all known mutations, generally causing a truncated protein. In a PKP2 truncated mouse model, we hypothesize that content of transgene, endurance training and aging will be determinant in disease progression. In addition, we investigated the molecular defects associated with the phenotype in this model...
July 12, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27375112/antagonistic-regulation-of-intercellular-cohesion-by-plakophilins-1-and-3
#15
René Keil, Katrin Rietscher, Mechthild Hatzfeld
Desmosomes are cell-cell adhesive structures essential for tissue integrity of the epidermis and the heart. Their constituents belong to multigene families giving rise to desmosomes of variable composition. So far, the functional significance of context-dependent composition in desmosome formation, dynamics, or stability during epidermal differentiation is incompletely understood. In this comparative study, we have uncovered unique and partially antagonistic functions of plakophilins 1 and 3 that are both expressed in the murine epidermis...
October 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27357287/multiple-regulatory-variants-located-in-cell-type-specific-enhancers-within-the-pkp2-locus-form-major-risk-and-protective-haplotypes-for-canine-atopic-dermatitis-in-german-shepherd-dogs
#16
Katarina Tengvall, Sergey Kozyrev, Marcin Kierczak, Kerstin Bergvall, Fabiana H G Farias, Brita Ardesjö-Lundgren, Mia Olsson, Eva Murén, Ragnvi Hagman, Tosso Leeb, Gerli Pielberg, Åke Hedhammar, Göran Andersson, Kerstin Lindblad-Toh
BACKGROUND: Canine atopic dermatitis (CAD) is a chronic inflammatory skin disease triggered by allergic reactions involving IgE antibodies directed towards environmental allergens. We previously identified a ~1.5 Mb locus on canine chromosome 27 associated with CAD in German shepherd dogs (GSDs). Fine-mapping indicated association closest to the PKP2 gene encoding plakophilin 2. RESULTS: Additional genotyping and association analyses in GSDs combined with control dogs from five breeds with low-risk for CAD revealed the top SNP 27:19,086,778 (p = 1...
2016: BMC Genetics
https://www.readbyqxmd.com/read/27122407/molecular-autopsy-of-desmosomal-protein-plakophilin-2-in-sudden-unexplained-nocturnal-death-syndrome
#17
Lei Huang, Shuangbo Tang, Longyun Peng, Yili Chen, Jianding Cheng
Plakophilin-2 (PKP2) variants could produce a phenotype of Brugada syndrome (BrS), which seems to be most likely the same allelic disorder as some sudden unexplained nocturnal death syndrome (SUNDS). All coding regions of PKP2 gene in 119 SUNDS victims were genetically screened using PCR and direct Sanger sequencing methods. Three novel mutations (p.Ala159Thr, p.Val200Val, and p.Gly265Glu), one novel rare polymorphism (p.Thr723Thr), and eight reported polymorphisms were identified. A compound mutation (p.Ala159Thr and p...
May 2016: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/27085656/brugada-syndrome-and-pkp2-evidences-and-uncertainties
#18
EDITORIAL
Oscar Campuzano, Anna Fernández-Falgueras, Anna Iglesias, Ramon Brugada
Common electrocardiographic patterns in Brugada Syndrome and Arrhythmogenic Cardiomyopathy have been reported despite phenotypic alterations during its clinical course. Recently, potentially pathogenic variants in the PKP2 gene, the most prevalent gene associated with Arrhythmogenic Cardiomyopathy, have been associated with Brugada Syndrome. In addition, in vitro studies demonstrated the interaction between plakophilin-2 and sodium channel, the most prevalent gene associated with Brugada Syndrome. All these facts reinforce the suggested overlapping between both entities but little is known about the pathophysiological mechanisms...
July 1, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27033150/growth-retardation-loss-of-desmosomal-adhesion-and-impaired-tight-junction-function-identify-a-unique-role-of-plakophilin-1-in%C3%A2-vivo
#19
Katrin Rietscher, Annika Wolf, Gerd Hause, Annekatrin Rother, René Keil, Thomas M Magin, Markus Glass, Carien M Niessen, Mechthild Hatzfeld
Desmosomes mediate strong intercellular adhesion through desmosomal cadherins that interact with intracellular linker proteins including plakophilins (PKPs) 1-3 to anchor the intermediate filaments. PKPs show overlapping but distinct expression patterns in the epidermis. So far, the contribution of individual PKPs in differentially regulating desmosome function is incompletely understood. To resolve the role of PKP1 we ablated the PKP1 gene. Here, we report that PKP1(-/-) mice were born at the expected mendelian ratio with reduced birth weight, but they otherwise appeared normal immediately after birth...
July 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27033120/new-partners-and-phosphorylation-sites-of-focal-adhesion-kinase-identified-by-mass-spectrometry
#20
Maria del Mar Masdeu, Beatriz G Armendáriz, Eduardo Soriano, Jesús Mariano Ureña, Ferran Burgaya
The regulation of focal adhesion kinase (FAK) involves phosphorylation and multiple interactions with other signaling proteins. Some of these pathways are relevant for nervous system functions such as branching, axonal guidance, and plasticity. In this study, we screened mouse brain to identify FAK-interactive proteins and phosphorylatable residues as a first step to address the neuronal functions of this kinase. Using mass spectrometry analysis, we identified new phosphorylated sites (Thr 952, Thr 1048, and Ser 1049), which lie in the FAT domain; and putative new partners for FAK, which include cytoskeletal proteins such as drebrin and MAP 6, adhesion regulators such as neurabin-2 and plakophilin 1, and synapse-associated proteins such as SynGAP and a NMDA receptor subunit...
July 2016: Biochimica et Biophysica Acta
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