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

来源：

CIRCULATION | 2023年 / 147卷 / 22期

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

页码：1711 / 1713

页数：3

共 50 条

[1] Role of Titin Missense Variants in Dilated Cardiomyopathy
Begay, Rene L.
Graw, Sharon
Sinagra, Gianfranco
Merlo, Marco
Slavov, Dobromir
Gowan, Katherine
Jones, Kenneth L.
Barbati, Giulia
Spezzacatene, Anita
Brun, Francesca
Di Lenarda, Andrea
Smith, John E.
Granzier, Henk L.
Mestroni, Luisa
Taylor, Matthew
JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2015, 4 (11):
[2] Titin mutations in familial dilated cardiomyopathy
Gerull, B
Gramlich, M
Atherton, J
McNabb, M
Seidman, JG
Seidman, C
Granzier, H
Labeit, S
Frenneaux, M
Thierfelder, L
CIRCULATION, 2001, 104 (17) : 135 - 135
[3] Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
Oyediran Akinrinade
Tiina Heliö
Ronald H. Lekanne Deprez
Jan D. H. Jongbloed
Ludolf G. Boven
Maarten P. van den Berg
Yigal M. Pinto
Tero-Pekka Alastalo
Samuel Myllykangas
Karin van Spaendonck-Zwarts
J. Peter van Tintelen
Paul A. van der Zwaag
Juha Koskenvuo
Scientific Reports, 9
[4] Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
Akinrinade, Oyediran
Helio, Tiina
Deprez, Ronald H. Lekanne
Jongbloed, Jan D. H.
Bovens, Ludolf G.
van den Berg, Maarten P.
Pinto, Yigal M.
Alastalo, Tero-Pekka
Myllykangas, Samuel
van Spaendonck-Zwarts, Karin
van Tintelen, J. Peter
van der Zwaag, Paul A.
Koskenvuo, Juha
SCIENTIFIC REPORTS, 2019, 9 (1)
[5] Investigation of titin expression in explanted hearts with familial dilated cardiomyopathy and TTN truncating variants
Smoktunowicz, N.
Vikhorev, P.
Montgiraud, C.
Copeland, O.
Munster, A.
Dos Remedios, C.
Messer, A.
Knoll, R.
Marston, S.
CARDIOVASCULAR RESEARCH, 2016, 111 : S7 - S7
[6] Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
Gerull, B
Gramlich, M
Atherton, J
McNabb, M
Trombitás, K
Sasse-Klaassen, S
Seidman, JG
Seidman, C
Granzier, H
Labeit, S
Frenneaux, M
Thierfelder, L
NATURE GENETICS, 2002, 30 (02) : 201 - 204
[7] Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
Brenda Gerull
Michael Gramlich
John Atherton
Mark McNabb
Karoly Trombitás
Sabine Sasse-Klaassen
J.G. Seidman
Christine Seidman
Henk Granzier
Siegfried Labeit
Michael Frenneaux
Ludwig Thierfelder
Nature Genetics, 2002, 30 : 201 - 204
[8] A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death
Meurs, Kathryn M.
Friedenberg, Steven G.
Kolb, Justin
Saripalli, Chandra
Tonino, Paola
Woodruff, Kathleen
Olby, Natasha J.
Keene, Bruce W.
Adin, Darcy B.
Yost, Oriana L.
DeFrancesco, Teresa C.
Lahmers, Sunshine
Tou, Sandra
Shelton, G. Diane
Granzier, Henk
HUMAN GENETICS, 2019, 138 (05) : 515 - 524
[9] A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death
Kathryn M. Meurs
Steven G. Friedenberg
Justin Kolb
Chandra Saripalli
Paola Tonino
Kathleen Woodruff
Natasha J. Olby
Bruce W. Keene
Darcy B. Adin
Oriana L. Yost
Teresa C. DeFrancesco
Sunshine Lahmers
Sandra Tou
G. Diane Shelton
Henk Granzier
Human Genetics, 2019, 138 : 515 - 524
[10] Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy
Oyediran Akinrinade
Tiina Heliö
Ronald H. Lekanne Deprez
Jan D. H. Jongbloed
Ludolf G. Boven
Maarten P. van den Berg
Yigal M. Pinto
Tero-Pekka Alastalo
Samuel Myllykangas
Karin van Spaendonck-Zwarts
J. Peter van Tintelen
Paul A. van der Zwaag
Juha Koskenvuo
Scientific Reports, 10

← 1 2 3 4 5 →