Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

被引:7
|
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
  • [21] A Novel Titin Mutation in Adult-Onset Familial Dilated Cardiomyopathy
    Yoskovitz, Guy
    Peled, Yael
    Gramlich, Michael
    Lahat, Hadas
    Resnik-Wolf, Heike
    Feinberg, Micha S.
    Afek, Arnon
    Pras, Elon
    Arad, Michael
    Gerull, Brenda
    Freimark, Dov
    AMERICAN JOURNAL OF CARDIOLOGY, 2012, 109 (11): : 1644 - 1650
  • [22] Identification of a desmin missense mutation responsible for familial dilated cardiomyopathy
    Li, D
    Tapscott, TL
    Gonzalez, O
    Quinones, MA
    Zoghbi, WA
    Hill, R
    Bachinski, LL
    Capetanaki, Y
    Mann, DL
    Roberts, R
    CIRCULATION, 1999, 100 (18) : 617 - 617
  • [23] Skeletal Muscle Involvement in Patients With Truncations of Titin and Familial Dilated Cardiomyopathy
    Skriver, Sofie Vinther
    Krett, Bjerg
    Poulsen, Nanna Scharf
    Krag, Thomas
    Walas, Helle Rudkjaer
    Christensen, Alex Herby
    Bundgaard, Henning
    Vissing, John
    Vissing, Christoffer Rasmus
    JACC-HEART FAILURE, 2024, 12 (04) : 740 - 753
  • [24] Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy
    Tabish A.M.
    Azzimato V.
    Alexiadis A.
    Buyandelger B.
    Knöll R.
    Biophysical Reviews, 2017, 9 (3) : 207 - 223
  • [25] Truncating titin mutations cause a mild and treatable form of dilated cardiomyopathy
    Jansweijer, J. A.
    Nieuwhof, K.
    Russo, F.
    Van den Berg, M. P.
    Wilde, A. A. M.
    De Boer, R. A.
    Van Spaendonck, K. Y.
    Van Tintelen, J. P.
    Pinto, Y. M.
    EUROPEAN HEART JOURNAL, 2015, 36 : 523 - 524
  • [26] Structural basis of domain destabilization by dilated-cardiomyopathy-causing missense mutations in titin
    Martinez-Martin, Ines
    Crousilles, Audrey
    Herrero-Galan, Elias
    Velazquez-Carreras, Diana
    Mortensen, Simon A.
    Ochoa, Juan Pablo
    Garcia-Pavia, Pablo
    de Sancho, David
    Wilmanns, Matthias
    Alegre-Cebollada, Jorge
    BIOPHYSICAL JOURNAL, 2023, 122 (03) : 172A - 172A
  • [27] Structural and Biophysical Analysis of Hypertrophic Cardiomyopathy-Linked Titin Missense Variants
    Rees, Martin
    Fraternali, Franca
    Elliott, Perry
    Gautel, Mathias
    BIOPHYSICAL JOURNAL, 2017, 112 (03) : 164A - 164A
  • [28] Lamin A/C deficiency as a cause of familial dilated cardiomyopathy
    Malhotra, Rohit
    Mason, Pamela K.
    CURRENT OPINION IN CARDIOLOGY, 2009, 24 (03) : 203 - 208
  • [29] A mouse model of a familial dilated cardiomyopathy mutation in titin recapitulates the human phenotype
    Gramlich, Michael
    Michely, Beate
    Gerull, Brenda
    Krohne, Christian
    Murano, Ingo
    Labeit, Siegfried
    Thierfelder, Ludwig
    CIRCULATION, 2007, 116 (16) : 255 - 255
  • [30] Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations
    Franaszczyk, Maria
    Chmielewski, Przemyslaw
    Truszkowska, Grazyna
    Stawinski, Piotr
    Michalak, Ewa
    Rydzanicz, Malgorzata
    Sobieszczanska-Malek, Malgorzata
    Pollak, Agnieszka
    Szczygiel, Justyna
    Kosinska, Joanna
    Parulski, Adam
    Stoklosa, Tomasz
    Tarnowska, Agnieszka
    Machnicki, Marcin M.
    Foss-Nieradko, Bogna
    Szperil, Malgorzata
    Sioma, Agnieszka
    Kusmierczyk, Mariusz
    Grzybowski, Jacek
    Zielinski, Tomasz
    Ploski, Rafal
    Bilinska, Zofia T.
    PLOS ONE, 2017, 12 (01):