Germline variant affecting p53β isoforms predisposes to familial cancer.

Autor: Schubert SA; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., Ruano D; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., Joruiz SM; School of Medicine, University of Dundee, Dundee, UK., Stroosma J; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., Glavak N; School of Medicine, University of Dundee, Dundee, UK.; Croatian Institute of Transfusion Medicine, Zagreb, Croatia., Montali A; School of Medicine, University of Dundee, Dundee, UK., Pinto LM; School of Medicine, University of Dundee, Dundee, UK., Rodríguez-Girondo M; Department of Biomedical Data Sciences, Section of Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Nesselrooij BPM; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Leerdam ME; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands., Sharp TH; Department of Cell and Chemical Biology, Leiden University Medical Center, Leiden, The Netherlands.; School of Biochemistry, University of Bristol, Bristol, UK., Morreau H; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., Bourdon JC; School of Medicine, University of Dundee, Dundee, UK. j.bourdon@dundee.ac.uk., de Miranda NFCC; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. N.F.de_Miranda@lumc.nl., van Wezel T; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands. T.van_Wezel@lumc.nl.; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands. T.van_Wezel@lumc.nl.

Publikováno v: Nature communications [Nat Commun] 2024 Sep 18; Vol. 15 (1), pp. 8208. Date of Electronic Publication: 2024 Sep 18.

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA -Gene Variants.

Autor: Wu HW; Department of Cardiology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Van de Peppel IP; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Jukema JW; Department of Cardiology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.; Netherlands Heart Institute, 3511 EP Utrecht, The Netherlands., Aten E; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Jazet IM; Department of General Internal Medicine and Endocrinology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands., Ajmone Marsan N; Department of Cardiology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

Publikováno v: Journal of cardiovascular development and disease [J Cardiovasc Dev Dis] 2024 Mar 05; Vol. 11 (3). Date of Electronic Publication: 2024 Mar 05.

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

Autor: van den Bersselaar LM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Bekkers JA; Department of Cardiothoracic Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands., Kempers M; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Baars M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Overwater E; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Hilhorst-Hofstee Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Rompen E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands., Dulfer E; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Wessels MW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Loeys BL; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verhagen HJM; Department of Vascular Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Maugeri A; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Roos-Hesselink JW; Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Brüggenwirth HT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101024. Date of Electronic Publication: 2023 Dec 11.

The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.

Autor: Verheul LM; Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., van der Ree MH; Department of Cardiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Heart Failure and Arrhythmias, Amsterdam, Cardiovascular Sciences, Amsterdam, The Netherlands., Groeneveld SA; Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands., Mulder BA; Department of Cardiology, University Medical Center Groningen, Groningen, The Netherlands., Christiaans I; Department of Human Genetics, University Medical Center Groningen, Groningen, The Netherlands., Kapel GFL; Department of Cardiology, Medisch Spectrum Twente, Enschede, The Netherlands., Alings M; Department of Cardiology, Amphia Hospital, Breda, The Netherlands., Bootsma M; Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Barge-Schaapveld DQCM; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Balt JC; Department of Cardiology, St.Antonius Hospital, Nieuwegein, The Netherlands., Yap SC; Department of Cardiology, Erasmus MC, Rotterdam, The Netherlands., Krapels IPC; Department of Human Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Ter Bekke RMA; Department of Cardiology, Maastricht University Medical Center+, Maastricht, The Netherlands., Volders PGA; Department of Cardiology, Maastricht University Medical Center+, Maastricht, The Netherlands., van der Crabben SN; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands., Postema PG; Department of Cardiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Heart Failure and Arrhythmias, Amsterdam, Cardiovascular Sciences, Amsterdam, The Netherlands., Wilde AAM; Department of Cardiology, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Heart Failure and Arrhythmias, Amsterdam, Cardiovascular Sciences, Amsterdam, The Netherlands., Dooijes D; Department of Human Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Baas AF; Department of Human Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Hassink RJ; Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht 3584 CX, The Netherlands.

Publikováno v: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology [Europace] 2023 Nov 02; Vol. 25 (11).

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.

Autor: Pham C; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Andrzejczyk K; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Jurgens SJ; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.).; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).; Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.J.J., S.A.L., P.T.E.)., Lekanne Deprez R; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., Palm KCA; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Vermeer AMC; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., Nijman J; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., Christiaans I; Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (I.C.)., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands (D.Q.C.M.B.-S.)., van Dessel PFHM; Department of Cardiology, Thorax Center Twente, Medisch Spectrum Twente (MST), Enschede, the Netherlands (P.F.H.M.v.D.)., Beekman L; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Choi SH; Department of Biostatistics, Boston University, MA (S.H.C.)., Lubitz SA; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).; Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.J.J., S.A.L., P.T.E.)., Skoric-Milosavljevic D; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.)., van den Bersselaar L; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands (L.v.d.B.)., Jansen PR; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).; Amsterdam UMC location Vrije Universiteit Amsterdam, Department of Complex Trait Genetics, the Netherlands (P.R.J.)., Copier JS; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).; Cardiovascular Research Center, Massachusetts General Hospital, Boston (S.J.J., S.A.L., P.T.E.)., Wilde AAM; Department of Cardiology (A.A.M.W.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Bezzina CR; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.)., Lodder EM; Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, the Netherlands (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., A.A.M.W., C.R.B., E.M.L.).; Department of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Aug; Vol. 16 (4), pp. 328-336. Date of Electronic Publication: 2023 May 18.