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The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
Milting, Hendrik; Klauke, Bärbel; Christensen, Alex Hoerby; Müsebeck, Jörg; Walhorn, Volker; Grannemann, Sören; Münnich, Tamara; Saric, Tomo; Rasmussen, Torsten Bloch; Jensen, Henrik Kjærulf; Mogensen, Jens; Baecker, Carolin; Romaker, Elena; Laser, Kai Thorsten; zu Knyphausen, Edzard; Kassner, Astrid; Gummert, Jan; Judge, Daniel P; Connors, Sean; Hodgkinson, Kathy; Young, Terry-L; van der Zwaag, Paul A; van Tintelen, J Peter; Anselmetti, Dario.
Afiliação
  • Milting H; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany hmilting@hdz-nrw.de.
  • Klauke B; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.
  • Christensen AH; Department of Cardiology, Bispebjerg Hospital, Copenhagen University Hospital, Denmark.
  • Müsebeck J; Universität Bremen, Zentrum f. Humangenetik, Loebener Str. ZHG, Bremen D-28359, Germany.
  • Walhorn V; Faculty of Physics, Experimental Biophysics and Applied Nanoscience, Bielefeld Institute for Biophysics and Nanoscience, Bielefeld University, Universitaetsstr. 25, Bielefeld D-33615, Germany.
  • Grannemann S; Faculty of Physics, Experimental Biophysics and Applied Nanoscience, Bielefeld Institute for Biophysics and Nanoscience, Bielefeld University, Universitaetsstr. 25, Bielefeld D-33615, Germany.
  • Münnich T; Faculty of Physics, Experimental Biophysics and Applied Nanoscience, Bielefeld Institute for Biophysics and Nanoscience, Bielefeld University, Universitaetsstr. 25, Bielefeld D-33615, Germany.
  • Saric T; Medical Faculty, Institute for Neurophysiology, University of Cologne, Robert Koch Str. 39, Cologne D-50931, Germany.
  • Rasmussen TB; Department of Cardiology, Aarhus University Hospital, Brendstrupgaardsvej 100, Aarhus, Denmark.
  • Jensen HK; Department of Cardiology, Aarhus University Hospital, Brendstrupgaardsvej 100, Aarhus, Denmark.
  • Mogensen J; Department of Cardiology, Odense University Hospital, Odense, Denmark.
  • Baecker C; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.
  • Romaker E; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.
  • Laser KT; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.
  • zu Knyphausen E; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.
  • Kassner A; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.
  • Gummert J; Herz- & Diabeteszentrum NRW, Universitätsklinik der Ruhr Universität Bochum, Erich & Hanna Klessmann-Institut f. Kardiovaskuläre Forschung und Entwicklung & Zentrum für Angeborene Herzfehler, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.
  • Judge DP; Johns Hopkins University, Center for Inherited Heart Disease, Baltimore, MD 21287, USA.
  • Connors S; Clinical Epidemiology Unit, Discipline of Genetics and Division of Cardiology Memorial University, Health Sciences Centre, St. John's, Newfoundland, Canada.
  • Hodgkinson K; Clinical Epidemiology Unit, Discipline of Genetics and Division of Cardiology Memorial University, Health Sciences Centre, St. John's, Newfoundland, Canada.
  • Young TL; Clinical Epidemiology Unit, Discipline of Genetics and Division of Cardiology Memorial University, Health Sciences Centre, St. John's, Newfoundland, Canada.
  • van der Zwaag PA; Department of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30001, Groningen 9700 RB, The Netherlands.
  • van Tintelen JP; Department of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30001, Groningen 9700 RB, The Netherlands.
  • Anselmetti D; Faculty of Physics, Experimental Biophysics and Applied Nanoscience, Bielefeld Institute for Biophysics and Nanoscience, Bielefeld University, Universitaetsstr. 25, Bielefeld D-33615, Germany.
Eur Heart J ; 36(14): 872-81, 2015 Apr 07.
Article em En | MEDLINE | ID: mdl-24598986
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Núcleo Celular / Displasia Arritmogênica Ventricular Direita / Mutação de Sentido Incorreto / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do norte / Europa Idioma: En Revista: Eur Heart J Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Núcleo Celular / Displasia Arritmogênica Ventricular Direita / Mutação de Sentido Incorreto / Proteínas de Membrana Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: America do norte / Europa Idioma: En Revista: Eur Heart J Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Alemanha