Role of <i>TBX20</i> Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
作者:
Almudena,Amor-Salamanca [1]
;
Alfredo,Santana Rodríguez [2]
;
Hazhee,Rasoul [3]
;
José F,Rodríguez-Palomares [4]
;
Oana,Moldovan [5]
;
Thomas Morris,Hey [6]
;
María Gallego,Delgado [7]
;
David López,Cuenca [8]
;
Daniel,de Castro Campos [9]
;
María Teresa,Basurte-Elorz [10]
;
Rosa,Macías-Ruiz [11]
;
María Eugenia,Fuentes Cañamero [8]
;
Joseph,Galvin [12]
;
Raquel,Bilbao Quesada [13]
;
Luis,de la Higuera Romero [14]
;
Juan Pablo,Trujillo-Quintero [15]
;
Loida María,García-Cruz [16]
;
Ivonne,Cárdenas-Reyes [17]
;
Juan,Jiménez-Jáimez [18]
;
Soledad,García-Hernández [19]
;
María,Valverde-Gómez [20]
;
Iria,Gómez-Díaz [21]
;
Javier,Limeres Freire [1]
;
José M,García-Pinilla [7]
;
Juan R,Gimeno-Blanes [22]
;
Konstantinos,Savattis [23]
;
Pablo,García-Pavía [2]
;
Juan Pablo,Ochoa [3]
作者单位:
Cardiology Department, Health in Code SL, A Coruña, Spain (A.A.-S., L.d.l.H.R., I.C.-R., S.G.-H., M.V.-G., I.G.-D., J.P.O.).
[1]
Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain (A.S.R., L.M.G.-C.).
[2]
Research Institute of Biomedical and Health Sciences, University of Las Palmas de Gran Canaria, Spain (A.S.R., L.M.G.-C.).
[3]
Inherited Cardiovascular Diseases Unit, St. Bartholomew's Hospital, Barts Health NHS Trust, London, United Kingdom (H.R., K.S.).
[4]
Cardiovascular Imaging Unit and Inherited Cardiac Diseases Unit, Cardiology Department, Vall d'Hebron University Hospital, Barcelona, Spain (J.F.R.-P., J.L.F.).
[5]
Vall d'Hebron Rsrch Unit, Barcelona, Spain (J.F.R.-P.).
[6]
Universitat Autònoma Barcelona, Spain (J.F.R.-P., J.P.T.-Q.).
[7]
Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain (J.F.R.-P., M.G.D., J.M.G.-P., J.R.G.-B., P.G.-P.).
[8]
European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERN GUARD-Heart, Amsterdam, The Netherlands (J.F.R.-P., J.L.F., J.R.G.-B., P.G.-P.).
[9]
Serviço de Genética Médica, Department de Pediatria, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Portugal (O.M.).
[10]
Department of Cardiology, The Clinic of Inherited Cardiovascular Diseases, Odense University Hospital, Denmark (T.M.H.).
[11]
Cardiology Department, Hospital Universitario de Salamanca, Spain (M.G.D.).
[12]
Biomedical Research Institute of Salamanca, Gerencia Regional de Salud de Castilla y León, Spain (M.G.D.).
[13]
Department of Cardiology, Inherited Cardiac Diseases Unit, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain (D.L.C., J.R.G.-B.).
[14]
Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Puerta de Hierro, IDIPHISA, Madrid, Spain (D.d.C.C., P.G.-P., J.P.O.).
[15]
Department of Cardiology, Complejo Hospitalario de Navarra, Pamplona, Spain (M.T.B.-E.).
[16]
Cardiology Department, Hospital Universitario Virgen de las Nieves, Granada, Spain (R.M.-R., J.J.-J.).
[17]
Instituto de Investigación Biosanitaria Instituto de Investigación Biosanitaria de Granada (IBS-GRANADA), Spain (R.M.-R., J.J.-J.).
[18]
Cardiology Department, Hospital Universitario de Badajoz, Spain (M.E.F.C.).
[19]
Department of Cardiology, University College Dublin School of Medicine, Mater Misericordiae University Hospital, Ireland (J.G.).
[20]
Cardiology Department, Hospital Álvaro Cunqueiro, Vigo, Spain (R.B.Q.).
[21]
Center for Genomic Medicine, Parc Taulí Hospital Universitari, Sabadell, Spain (J.P.T.-Q.).
[22]
Institut d'Investigació i Innovació Parc Taulí, Sabadell, Spain (J.P.T.-Q.).
[23]
Inherited Cardiac Diseases Unit, Hospital Universitario San Cecilio, Granada, Spain (S.G.-H.).
[24]
Cardiology Department, Hospital Universitario 12 de Octubre, Madrid, Spain (M.V.-G.).
[25]
Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain (J.M.G.-P.).
[26]
Department of Medicine and Dermatology, Universidad de Málaga, Spain (J.M.G.-P.).
[27]
Institute for Cardiovascular Science, University College London, United Kingdom (K.S.).
[28]
Biomedical Research Center, National Institute for Health and Care Research (NIHR) University College London Hospitals, United Kingdom (K.S.).
[29]
William Harvey Research Institute, Queen Mary University of London, United Kingdom (K.S.).
[30]
Universidad Francisco de Vitoria, Pozuelo de Alarcón, Spain (P.G.-P.).
[31]
Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain (P.G.-P., J.P.O.).
[32]
主题词
男(雄)性(Male);人类(Humans);青少年(Adolescent);青年人(Young Adult);成年人(Adult);中年人(Middle Aged);女(雌)性(Female);心肌病, 扩张型(Cardiomyopathy, Dilated);心脏缺损, 先天性(Heart Defects, Congenital);心律失常, 心性(Arrhythmias, Cardiac);表型(Phenotype);T盒域蛋白质类(T-Box Domain Proteins)
DOI
10.1161/CIRCGEN.123.004404
PMID
38353104
发布时间
2024-04-18
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Circulation. Genomic and precision medicine
Circulation. Genomic and precision medicine
2024年17卷2期
e004404页
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