换一批Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating Variant.
第一作者：
Edgar T,Hoorntje
第一单位：
Department of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.).;Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).
作者：
Edgar T,Hoorntje [1]
;
Charlotte,Burns [2]
;
Luisa,Marsili [3]
;
Ben,Corden [4]
;
Victoria N,Parikh [5]
;
Gerard J,Te Meerman [6]
;
Belinda,Gray [2]
;
Ahmet,Adiyaman [7]
;
Richard D,Bagnall [8]
;
Daniela Q C M,Barge-Schaapveld [9]
;
Maarten P,van den Berg [10]
;
Marianne,Bootsma [11]
;
Laurens P,Bosman [12]
;
Gemma,Correnti [13]
;
Johan,Duflou [14]
;
Ruben N,Eppinga [15]
;
Diane,Fatkin [16]
;
Michael,Fietz [6]
;
Eric,Haan [17]
;
Jan D H,Jongbloed [18]
;
Arnaud D,Hauer [19]
;
Lien,Lam [4]
;
Freyja H M,van Lint [20]
;
Amrit,Lota [21]
;
Carlo,Marcelis [9]
;
Hugh J,McCarthy [22]
;
Anneke M,van Mil [23]
;
Rogier A,Oldenburg [24]
;
Nicholas,Pachter [5]
;
R Nils,Planken [2]
;
Chloe,Reuter [25]
;
Christopher,Semsarian [26]
;
Jasper J,van der Smagt [27]
;
Tina,Thompson [4]
;
Jitendra,Vohra [28]
;
Paul G A,Volders [29]
;
Jaap I,van Waning [29]
;
Nicola,Whiffin [10]
;
Arthur,van den Wijngaard [30]
;
Ahmad S,Amin [26]
;
Arthur A M,Wilde [5]
;
Gijs,van Woerden [5]
;
Laura,Yeates [4]
;
Dominica,Zentner [31]
;
Euan A,Ashley [32]
;
Matthew T,Wheeler ;
James S,Ware ;
J Peter,van Tintelen ;
Jodie,Ingles
作者单位：
Department of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.).;Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).
[1]
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).;Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).;Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.).
[2]
Department of Clinical Genetics, Amsterdam University Medical Centre, location AMC, University of Amsterdam, the Netherlands (L.M., J.P.v.T.).;Clinique de Génétique, CHU Lille, Lille, France (L.M.).
[3]
National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.).
[4]
Stanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.).
[5]
Department of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.).
[6]
Department of Cardiology, Isala Heart Center, Zwolle (A.A.).
[7]
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).;Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).
[8]
Department of Clinical Genetics, Leiden University Medical Centre (D.Q.C.M.B.-S., A.M.v.M.).
[9]
Department of Cardiology, University of Groningen, University Medical Centre Groningen (M.P.v.d.B., G.v.W.).
[10]
Department of Cardiology, University of Leiden, Leiden University Medical Centre (M.B.).
[11]
Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).;Department of Cardiology, University of Utrecht (L.P.B.).
[12]
Adult Genetics Unit, Royal Adelaide Hospital and Faculty of Health and Medical Sciences, University of Adelaide (G.C.).
[13]
Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).
[14]
Victor Chang Cardiac Research Institute, Sydney (D.F.).
[15]
Department of Diagnostic Genomics, PathWest Laboratory, Medicine WA, Redlands, Australia (M.F.).
[16]
Department of Cardiology, Haga Teaching Hospital, the Hague (A.D.H.).
[17]
Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).
[18]
Department of Genetics, University of Utrecht, University Medical Centre Utrecht, the Netherlands (F.H.M.v.L., J.P.v.T.).
[19]
Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands (C.M.).
[20]
Department of Clinical Genetics, Children's Hospital Westmead, Sydney, Australia (H.J.M.).
[21]
Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands (R.A.O.).
[22]
Genetic Services of Western Australia, Perth, Australia (N.P.).
[23]
Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centre, Amsterdam, the Netherlands (R.N.P.).
[24]
Department of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.).
[25]
Department of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.).;Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Australia (J.V., D.Z.).
[26]
Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM) (P.G.A.V.).
[27]
Department of Clinical Genetics, Laboratory Clinical Genetics, Maastricht University Medical Centre (A.v.d.W.).
[28]
Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., A.A.M.W.).
[29]
Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).;Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.).;Cardio Genomics Program at Centenary Institute, The University of Sydney (L.Y., J.I.).
[30]
Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).;Department of Clinical Genetics, Amsterdam University Medical Centre, location AMC, University of Amsterdam, the Netherlands (L.M., J.P.v.T.).;Department of Genetics, University of Utrecht, University Medical Centre Utrecht, the Netherlands (F.H.M.v.L., J.P.v.T.).
[31]
Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).;Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (C.B., B.G., C.S., L.Y., J.I.).;Cardio Genomics Program at Centenary Institute, The University of Sydney (L.Y., J.I.).;Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney (J.I.).;Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia (J.I.).
[32]
医学主题词
女(雌)性(Female);人类(Humans);男(雄)性(Male);心律失常, 心性(Arrhythmias, Cardiac);心律失常性右心室发育不良(Arrhythmogenic Right Ventricular Dysplasia);心肌疾病(Cardiomyopathies);桥粒斑蛋白质类(Desmoplakins);危险因素(Risk Factors)
DOI
10.1161/CIRCGEN.121.003672
PMID
36580316
发布时间
2023-03-28
- 浏览0
Circulation. Genomic and precision medicine
Circulation. Genomic and precision medicine
2023年16卷1期
e003672页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
