Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

被引:9
作者
Dominguez, Fernando [1 ,2 ,3 ]
Lalaguna, Laura [2 ]
Martinez-Martin, Ines [2 ]
Piqueras-Flores, Jesus [4 ,5 ]
Rasmussen, Torsten Bloch [6 ]
Zorio, Esther [3 ,7 ]
Giovinazzo, Giovanna [2 ]
Prados, Belen [2 ]
Pablo Ochoa, Juan [2 ]
Bornstein, Belen [1 ]
Gonzalez-Lopez, Esther [1 ,3 ]
Velazquez-Carreras, Diana [2 ]
Pricolo, Maria Rosaria [2 ]
Gutierrez-Aguera, Francisco [2 ]
Antonio Bernal, Juan [2 ]
Herrero-Galan, Elias [2 ]
Alegre-Cebollada, Jorge [2 ]
Lara-Pezzi, Enrique [2 ,3 ]
Garcia-Pavia, Pablo [1 ,2 ,3 ,8 ]
机构
[1] Hosp Univ Puerta Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain
[2] Ctr Nacl Invest Cardiovasc Carlos III, Madrid, Spain
[3] CIBER Cardiovasc Dis CIBERCV, Madrid, Spain
[4] Hosp Univ Ciudad Real, Serv Cardiol, Unidad Cardiopatias Familiares, Ciudad Real, Spain
[5] Univ Castilla La Mancha, Fac Med Ciudad Real, Ciudad Real, Spain
[6] Aarhus Univ Hosp, Dept Cardiol, Aarhus, Denmark
[7] Hosp Univ & Politecn La Fe, Unidad Cardiopatias Familiares Muerte Subita & Me, Inst Invest Sanitaria La Fe, Serv Cardiol, Valencia, Spain
[8] Univ Francisco de Vitoria UFV, Pozuelo De Alarcon, Spain
关键词
cardiomyopathy; dilated; induced pluripotent stem cells; TTN protein; human; MUTATIONS;
D O I
10.1161/CIRCULATIONAHA.122.062833
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1711 / 1713
页数:3
相关论文
共 50 条
[41]   Protein Aggregates and Novel Presenilin Gene Variants in Idiopathic Dilated Cardiomyopathy [J].
Gianni, Davide ;
Li, Airong ;
Tesco, Giuseppina ;
Mckay, Kenneth M. ;
Moore, John ;
Raygor, Kunal ;
Rota, Marcello ;
Gwathmey, Judith K. ;
Dec, G. William ;
Aretz, Thomas ;
Leri, Annarosa ;
Semigran, Marc J. ;
Anversa, Piero ;
Macgillivray, Thomas E. ;
Tanzi, Rudolph E. ;
del Monte, Federica .
CIRCULATION, 2010, 121 (10) :1216-U81
[42]   Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis [J].
Seidel, Franziska ;
Holtgrewe, Manuel ;
Al-Wakeel-Marquard, Nadya ;
Opgen-Rhein, Bernd ;
Dartsch, Josephine ;
Herbst, Christopher ;
Beule, Dieter ;
Pickardt, Thomas ;
Klingel, Karin ;
Messroghli, Daniel ;
Berger, Felix ;
Schubert, Stephan ;
Kuehnisch, Jirko ;
Klaassen, Sabine .
CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2021, 14 (04) :418-427
[43]   Titin Truncation Variant in Dilated Cardiomyopathy Still on the Way Toward Clinical Application [J].
Ito, Masamichi ;
Morita, Hiroyuki .
INTERNATIONAL HEART JOURNAL, 2021, 62 (02) :221-223
[44]   Poor Prognosis of Rare Sarcomeric Gene Variants in Patients with Dilated Cardiomyopathy [J].
Merlo, Marco ;
Sinagra, Gianfranco ;
Carniel, Elisa ;
Slavov, Dobromir ;
Zhu, Xiao ;
Barbati, Giulia ;
Spezzacatene, Anita ;
Ramani, Federica ;
Salcedo, Ernesto ;
Di Lenarda, Andrea ;
Mestroni, Luisa ;
Taylor, Matthew R. G. .
CTS-CLINICAL AND TRANSLATIONAL SCIENCE, 2013, 6 (06) :424-428
[45]   Urinary N-terminal Fragment of Titin Predicts Mortality in Dilated Cardiomyopathy [J].
Sato, Yu ;
Yoshihisa, Akiomi ;
Kiko, Takatoyo ;
Kimishima, Yusuke ;
Watanabe, Shunsuke ;
Kanno, Yuki ;
Tatsumi, Makiko ;
Abe, Satoshi ;
Sato, Takamasa ;
Suzuki, Satoshi ;
Oikawa, Masayoshi ;
Kobayashi, Atsushi ;
Yamaki, Takayoshi ;
Kunii, Hiroyuki ;
Nakazato, Kazuhiko ;
Saitoh, Shu-ichi ;
Ishida, Takafumi ;
Takeishi, Yasuchika .
CIRCULATION, 2017, 136
[46]   Importance of N2BA Titin in Maintaining Cardiac Homeostasis and Its Role in Dilated Cardiomyopathy [J].
van der Pijl, Robbert ;
Nusayr, Eyad ;
Strom, Joshua ;
Slater, Rebecca ;
Gohlke, Jochen ;
Hourani, Zaynab ;
Saripalli, Chandra ;
Kolb, Justin ;
Hermanson, Kyra ;
Brynnel, Odhin ;
Smith III, John E. ;
Labeit, Siegfried ;
Methawasin, Mei ;
Granzier, Henk .
CIRCULATION-HEART FAILURE, 2025, 18 (03) :311-324
[47]   Investigation of a transgenic mouse model of familial dilated cardiomyopathy [J].
Song, Weihua ;
Dyer, Emma ;
Stuckey, Daniel ;
Leung, Man-Ching ;
Memo, Massimiliano ;
Mansfield, Catherine ;
Ferenczi, Michael ;
Liu, Ke ;
Redwood, Charles ;
Nowak, Kristen ;
Harding, Sian ;
Clarke, Kieran ;
Wells, Dominic ;
Marston, Steven .
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2010, 49 (03) :380-389
[48]   Molecular studies in familial dilated cardiomyopathy - A pilot study [J].
Mori, Vyom ;
Sawhney, J. P. S. ;
Verma, I. C. ;
Mehta, Ashwani ;
Saxena, Renu ;
Passey, Rajiv ;
Mohanty, Arun ;
Kandpal, Bhuwanesh ;
Vivek, B. S. ;
Sharma, Manish ;
Jain, Ashish Kumar ;
Katare, Dipak .
IJC HEART & VASCULATURE, 2022, 40
[49]   Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy [J].
Zhang, Xin-Ru ;
Ren, Hang ;
Yao, Fang ;
Liu, Yang ;
Song, Chun-Li .
WORLD JOURNAL OF CLINICAL CASES, 2023, 11 (11)
[50]   Position Statement on the Diagnosis and Management of Familial Dilated Cardiomyopathy [J].
Fatkin, Diane ;
Johnson, Renee ;
McGaughran, Julie ;
Weintraub, Robert G. ;
Atherton, John J. .
HEART LUNG AND CIRCULATION, 2017, 26 (11) :1127-1132