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Select item 67847771.

Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3β

Laura Padrón-Barthe, María Villalba-Orero, Jesús M. Gómez-Salinero, Fernando Domínguez, Marta Román, Javier Larrasa-Alonso, Paula Ortiz-Sánchez, Fernando Martínez, Marina López-Olañeta, Elena Bonzón-Kulichenko, Jesús Vázquez, Carlos Martí-Gómez, Demetrio J. Santiago, Belén Prados, Giovanna Giovinazzo, María Victoria Gómez-Gaviro, Silvia Priori, Pablo Garcia-Pavia, Enrique Lara-Pezzi

Circulation. 2019 Oct 1; 140(14): 1188–1204. Published online 2019 Sep 5. doi: 10.1161/CIRCULATIONAHA.119.040366

PMCID:: PMC6784777

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Select item 31337662.

The Impact of Implantable Cardioverter-Defibrillator Therapy on Survival in Autosomal-Dominant Arrhythmogenic Right Ventricular Cardiomyopathy (ARVD5)

Kathy A. Hodgkinson, Patrick S. Parfrey, Anne S. Bassett, Christine Kupprion, Jörg Drenckhahn, Mark W. Norman, Ludwig Thierfelder, Susan N. Stuckless, Elizabeth L. Dicks, William J. McKenna, Sean P. Connors

J Am Coll Cardiol. Author manuscript; available in PMC 2011 Jul 12.

Published in final edited form as: J Am Coll Cardiol. 2005 Feb 1; 45(3): 400–408. doi: 10.1016/j.jacc.2004.08.068

PMCID:: PMC3133766

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Select item 24272093.

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

Nancy D. Merner, Kathy A. Hodgkinson, Annika F.M. Haywood, Sean Connors, Vanessa M. French, Jörg-Detlef Drenckhahn, Christine Kupprion, Kalina Ramadanova, Ludwig Thierfelder, William McKenna, Barry Gallagher, Lynn Morris-Larkin, Anne S. Bassett, Patrick S. Parfrey, Terry-Lynn Young

Am J Hum Genet. 2008 Apr 11; 82(4): 809–821. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.010

PMCID:: PMC2427209

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Select item 93075604.

A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5

Nora Klinke, Heiko Meyer, Sandra Ratnavadivel, Marcel Reinhardt, Jürgen J. Heinisch, Anders Malmendal, Hendrik Milting, Achim Paululat

Cell Mol Life Sci. 2022; 79(8): 444. Published online 2022 Jul 22. doi: 10.1007/s00018-022-04458-0

PMCID:: PMC9307560

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Select item 87219015.

Systems genetics analysis defines importance of TMEM43/LUMA for cardiac- and metabolic-related pathways

Qingqing Gu, Fuyi Xu, Buyan-Ochir Orgil, Zaza Khuchua, Undral Munkhsaikhan, Jason N. Johnson, Neely R. Alberson, Joseph F. Pierre, Dennis D. Black, Deli Dong, Jaclyn A. Brennan, Brianna M. Cathey, Igor R. Efimov, Jeffrey A. Towbin, Enkhsaikhan Purevjav, Lu Lu

Physiol Genomics. 2022 Jan 1; 54(1): 22–35. Published online 2021 Nov 12. doi: 10.1152/physiolgenomics.00066.2021

PMCID:: PMC8721901

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Select item 63408916.

TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Guoxing Zheng, Changying Jiang, Yulin Li, Dandan Yang, Youcai Ma, Bing Zhang, Xuan Li, Pei Zhang, Xiaoyu Hu, Xueqiang Zhao, Jie Du, Xin Lin

Protein Cell. 2019 Feb; 10(2): 104–119. Published online 2018 Jul 6. doi: 10.1007/s13238-018-0563-2

PMCID:: PMC6340891

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Select item 96048247.

Adipogenic Signaling Promotes Arrhythmia Substrates before Structural Abnormalities in TMEM43 ARVC

Sunil K. Vasireddi, Prasongchai Sattayaprasert, Dandan Yang, Adrienne T. Dennis, Emre Bektik, Ji-dong Fu, Judith A. Mackall, Kenneth R. Laurita

J Pers Med. 2022 Oct; 12(10): 1680. Published online 2022 Oct 9. doi: 10.3390/jpm12101680

PMCID:: PMC9604824

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Select item 85726608.

A Deafness Associated Protein TMEM43 Interacts with KCNK3 (TASK-1) Two-pore Domain K⁺ (K2P) Channel in the Cochlea

Minwoo Wendy Jang, Tai Young Kim, Kushal Sharma, Jea Kwon, Eunyoung Yi, C. Justin Lee

Exp Neurobiol. 2021 Oct 31; 30(5): 319–328. Published online 2021 Oct 31. doi: 10.5607/en21028

PMCID:: PMC8572660

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Select item 29109499.

Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India

Maithili V.N. Dokuparthi, Pranathi R Pamuru, Sai S Oruganti, Narsimhan Calambur, Pratibha Nallari

Indian J Hum Genet. 2009 May-Aug; 15(2): 54–59. doi: 10.4103/0971-6866.55216

PMCID:: PMC2910949

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Select item 145896810.

Structure, Expression, and Function of a Novel Intercalated Disc Protein, Xin

Jim Jung-Ching Lin, Elisabeth A. Gustafson-Wagner, Haley W. Sinn, Sunju Choi, Shannon M. Jaacks, Da-Zhi Wang, Sylvia Evans, Jenny Li-Chun Lin

J Med Sci. Author manuscript; available in PMC 2006 May 9.

Published in final edited form as: J Med Sci. 2005 Oct; 25(5): 215–222. doi: 10.1901/jaba.2005.25-215

PMCID:: PMC1458968

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Select item 420874011.

TMEM43 Mutation p.S358L Alters Intercalated Disc Protein Expression and Reduces Conduction Velocity in Arrhythmogenic Right Ventricular Cardiomyopathy

Vinayakumar Siragam, Xuezhi Cui, Stephane Masse, Cameron Ackerley, Shabana Aafaqi, Linn Strandberg, Michael Tropak, Michael D. Fridman, Kumaraswamy Nanthakumar, Jun Liu, Yu Sun, Bin Su, Caroline Wang, Xiaoru Liu, Yuqing Yan, Ariel Mendlowitz, Robert M. Hamilton

PLoS One. 2014; 9(10): e109128. Published online 2014 Oct 24. doi: 10.1371/journal.pone.0109128

PMCID:: PMC4208740

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Select item 983788612.

Characterisation of patients referred to a tertiary-level inherited cardiac condition clinic with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)

A. Aljehani, T. Kew, S. Baig, H. Cox, L. C. Sommerfeld, B. Ensam, M. Kalla, R. P. Steeds, L. Fabritz

BMC Cardiovasc Disord. 2023; 23: 14. Published online 2023 Jan 12. doi: 10.1186/s12872-022-03021-w

PMCID:: PMC9837886

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Select item 977014013.

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population

Mimount Bourfiss, Marion van Vugt, Abdulrahman I. Alasiri, Bram Ruijsink, Jessica van Setten, A. Floriaan Schmidt, Dennis Dooijes, Esther Puyol-Antón, Birgitta K. Velthuis, J. Peter van Tintelen, Anneline S.J.M. te Riele, Annette F. Baas, Folkert W. Asselbergs

Circ Genom Precis Med. 2022 Dec; 15(6): e003704. Published online 2022 Oct 20. doi: 10.1161/CIRCGEN.122.003704

PMCID:: PMC9770140

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Select item 971202514.

Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy

Marit Kristine Smedsrud, Monica Chivulescu, Marianne Inngjerdingen Forså, Isotta Castrini, Eivind Westrum Aabel, Christine Rootwelt-Norberg, Martin Prøven Bogsrud, Thor Edvardsen, Nina Eide Hasselberg, Andreas Früh, Kristina Hermann Haugaa

Eur Heart J. 2022 Dec 1; 43(45): 4694–4703. Published online 2022 Aug 29. doi: 10.1093/eurheartj/ehac485

PMCID:: PMC9712025

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Select item 955576315.

Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy

Amrit S. Lota, Mark R. Hazebroek, Pantazis Theotokis, Rebecca Wassall, Sara Salmi, Brian P. Halliday, Upasana Tayal, Job Verdonschot, Devendra Meena, Ruth Owen, Antonio de Marvao, Alma Iacob, Momina Yazdani, Daniel J. Hammersley, Richard E. Jones, Riccardo Wage, Rachel Buchan, Fredrik Vivian, Yakeen Hafouda, Michela Noseda, John Gregson, Tarun Mittal, Joyce Wong, Jan Lukas Robertus, A. John Baksi, Vassilios Vassiliou, Ioanna Tzoulaki, Antonis Pantazis, John G.F. Cleland, Paul J.R. Barton, Stuart A. Cook, Dudley J. Pennell, Pablo Garcia-Pavia, Leslie T. Cooper, Jr, Stephane Heymans, James S. Ware, Sanjay K. Prasad

Circulation. 2022 Oct 11; 146(15): 1123–1134. Published online 2022 Sep 26. doi: 10.1161/CIRCULATIONAHA.121.058457

PMCID:: PMC9555763

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Select item 945558016.

Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish

Miriam Zink, Anne Seewald, Mareike Rohrbach, Andreas Brodehl, Daniel Liedtke, Tatjana Williams, Sarah J. Childs, Brenda Gerull

Int J Mol Sci. 2022 Sep; 23(17): 9530. Published online 2022 Aug 23. doi: 10.3390/ijms23179530

PMCID:: PMC9455580

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Select item 939265217.

Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

Alexandros Protonotarios, Riccardo Bariani, Chiara Cappelletto, Menelaos Pavlou, Alba García-García, Alberto Cipriani, Ioannis Protonotarios, Adrian Rivas, Regitze Wittenberg, Maddalena Graziosi, Zafeirenia Xylouri, José M Larrañaga-Moreira, Antonio de Luca, Rudy Celeghin, Kalliopi Pilichou, Athanasios Bakalakos, Luis Rocha Lopes, Konstantinos Savvatis, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Cristina Basso, Javier Limeres Freire, Jose F Rodriguez-Palomares, Toru Kubo, Tomas Ripoll-Vera, Roberto Barriales-Villa, Loizos Antoniades, Jens Mogensen, Pablo Garcia-Pavia, Karim Wahbi, Elena Biagini, Aris Anastasakis, Adalena Tsatsopoulou, Esther Zorio, Juan R Gimeno, Jose Manuel Garcia-Pinilla, Petros Syrris, Gianfranco Sinagra, Barbara Bauce, Perry M Elliott

Eur Heart J. 2022 Aug 21; 43(32): 3053–3067. Published online 2022 Jun 29. doi: 10.1093/eurheartj/ehac235