Výsledky vyhledávání - "Plakophilin 2"

Akademický článek

Late presentation of arrhythmogenic right ventricular cardiomyopathy in an octogenarian associated with a pathogenic variant in the plakophilin 2 gene: a case report

Autor: Yusuke Adachi, Takekuni Hayashi, Takeshi Mitsuhashi, Kenichi Sakakura, Yoko Yamada, Yuko Wada, Minoru Horie, Shin-ichi Momomura, Hideo Fujita

Publikováno v: BMC Cardiovascular Disorders, Vol 19, Iss 1, Pp 1-4 (2019)

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited myocardial disease characterized by fibrofatty replacement and ventricular arrhythmias. ARVC is believed to be a disease of the young, with most cases being di

Externí odkaz: https://doaj.org/article/17f83452e5134b7dbfe95d5c64d0447e

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Long non-coding RNA HCG11 enhances osteosarcoma phenotypes by sponging miR-1245b-5p that directly inhibits plakophilin 2

Autor: Hao Yan, Yong Zhou, Zhujiang Chen, Xiaokang Yan, Ling Zhu

Publikováno v: Bioengineered, Vol 13, Iss 1, Pp 140-154 (2022)
Bioengineered
article-version (VoR) Version of Record

Long non-coding RNA (lncRNA) HCG11 can regulate various cancers through the ceRNA network. However, its role in osteosarcoma (OS) remains unknown. The HOS and Saos-2 cell lines were used for in vitro analyses. HCG11 and plakophilin 2 (PKP2) silencers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad76a87db2eae4d51c75a7eeb8e98c2
https://doaj.org/article/08d0df6a8a474a0da54efc58d33a21eb

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Disruption of Ca 2+ i Homeostasis and Connexin 43 Hemichannel Function in the Right Ventricle Precedes Overt Arrhythmogenic Cardiomyopathy in Plakophilin-2–Deficient Mice

Autor: Marta Pérez-Hernández, Jérôme Montnach, Sun-Hee Woo, Svetlana Rajkumar Maurya, Mingliang Zhang, Alicia Lundby, Xianming Lin, Carolina Vasquez, Yandong Yin, Francisco J. Alvarado, Eli Rothenberg, Feng-Xia Liang, Adriana Heguy, Marina Cerrone, Joon-Chul Kim, Gregory E. Morley, Héctor H. Valdivia, Mario Delmar

Publikováno v: Kim, J-C, Perez-Hernandez, M, Alvarado, F J, Maurya, S R, Montnach, J, Yin, Y, Zhang, M, Lin, X, Vasquez, C, Heguy, A, Liang, F-X, Woo, S-H, Morley, G E, Rothenberg, E, Lundby, A, Valdivia, H H, Cerrone, M & Delmar, M 2019, ' Disruption of Ca 2+ i Homeostasis and Connexin 43 Hemichannel Function in the Right Ventricle Precedes Overt Arrhythmogenic Cardiomyopathy in Plakophilin-2-Deficient Mice ', Circulation, vol. 140, no. 12, pp. 1015-1030 . https://doi.org/10.1161/CIRCULATIONAHA.119.039710

Background: Plakophilin-2 (PKP2) is classically defined as a desmosomal protein. Mutations in PKP2 associate with most cases of gene-positive arrhythmogenic right ventricular cardiomyopathy. A better understanding of PKP2 cardiac biology can help elu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34dea25673075913d89571ac28156e0f
https://doi.org/10.1161/circulationaha.119.039710

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Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers

Autor: Bronislava Polonsky, Kristina H. Haugaa, Thor Edvardsen, Pyotr G. Platonov, Henrik Jensen, Thomas Gilljam, Jesper Hastrup Svendsen, Jim Hansen, Henning Bundgaard, Wojciech Zareba, Anna Gréen, Trine Madsen, Lars Karlsson, Cecilia Gunnarsson, Lars A. Dejgaard, Anneli Svensson

Publikováno v: Svensson, A, Platonov, P G, Haugaa, K H, Zareba, W, Jensen, H K, Bundgaard, H, Gilljam, T, Madsen, T, Hansen, J, Dejgaard, L A, Karlsson, L O, Gréen, A, Polonsky, B, Edvardsen, T, Svendsen, J H & Gunnarsson, C 2021, ' Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers ', Cardiology, vol. 146, no. 6, pp. 763-771 . https://doi.org/10.1159/000519231
Svensson, A, Platonov, P G, Haugaa, K H, Zareba, W, Jensen, H K, Bundgaard, H, Gilljam, T, Madsen, T, Hansen, J, Dejgaard, L A, Karlsson, L O, Gréen, A, Polonsky, B, Edvardsen, T, Svendsen, J H & Gunnarsson, C 2021, ' Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers ', Cardiology (Switzerland), vol. 146, no. 6, pp. 763-771 . https://doi.org/10.1159/000519231
Cardiology

INTRODUCTION: Whether detailed genetic information contributes to risk stratification of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) remains uncertain. Pathogenic genetic variants in some genes seem to carry a higher risk for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8e6d55c152a6df407f1c44185693bb
https://vbn.aau.dk/da/publications/d2893b6f-5f57-4b87-b0d2-49c8ef471d52

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Plakophilin‐2 Gene Therapy Prevents Arrhythmogenic Right Ventricular Cardiomyopathy Development In A Novel Mouse Model Harboring Patient Genetics

Autor: Farah Sheikh, Kirk L. Peterson, William Bradford, Aryanne Do, Yan Liang, Yusu Gu, Nirosh Mataraarachchi

Publikováno v: The FASEB Journal. 35

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fedfd33178982b4caafe2cab458d4f34
https://doi.org/10.1096/fasebj.2021.35.s1.03193

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B-PO03-134 DECREASED EXPRESSION OF PLAKOPHILIN-2 AND ALPHAT-CATENIN IN ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY: POTENTIAL MARKERS FOR EARLY DIAGNOSIS

Autor: Shih Lin Chang, Ta-Chuan Tuan, Fa Po Chung, Shih Ann Chen, Yenn Jiang Lin, Tze-Fan Chao, Jo-Nan Liao, Yu Feng Hu, Li-Wei Lo

Publikováno v: Heart Rhythm. 18:S243-S244

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3a6ccebc61207bb280a6e0d39248b51d
https://doi.org/10.1016/j.hrthm.2021.06.608

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A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family

Autor: John Garrity Marian, Kimia Pourebrahim, Ali J. Marian, Yanli Tan, Jeffrey T. Chang

Publikováno v: The journal of cardiovascular aging

Introduction: Primary dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are the two common and distinct forms of hereditary cardiomyopathies caused by defined pathogenic variants (PVs) typically in different sets

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9979fa823b74a3e052b18338f5bb36e
https://doi.org/10.20517/jca.2021.15

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Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes

Autor: Henrik Fox, Hendrik Milting, Lech Paluszkiewicz, Stefan P. Albaum, Jan Gummert, Caroline Stanasiuk, Andreas Brodehl, Ralph Knöll, Stefan Wlost, Jens Tiesmeier, Anna Gärtner, Janik Sielemann, Zaher Elbeck, Katharina Sielemann

Publikováno v: Genes
Volume 11
Issue 12
Genes, Vol 11, Iss 1430, p 1430 (2020)

Cardiovascular diseases are the number one cause of morbidity and mortality worldwide, but the underlying molecular mechanisms remain not well understood. Cardiomyopathies are primary diseases of the heart muscle and contribute to high rates of heart

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d14ad28bc965cb9c597a00ac68ef1d

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Abstract 13664: Membrane Stiffness as a Function of Plakophilin-2 Expression: Implications to Arrhythmogenic Right Ventricular Cardiomyopathy

Autor: Pamela Swiatlowska, Mario Delmar

Publikováno v: Circulation. 142

Mutations in PKP2 , the gene coding for the desmosomal protein Plakophilin-2 (PKP2), can lead to an inheritable cardiac disease called Arrhythmogenic Right Ventricle Cardiomyopathy (ARVC). Various studies investigated the molecular and electrical pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::72155649e3c59aa130501fdfb13440f2
https://doi.org/10.1161/circ.142.suppl_3.13664

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