A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3-Reference-Cited by-同舟云学术

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

Published:2018-03-06 Issue:5 Volume:39 Page:621-634
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Schepers Dorien¹^ORCID,Tortora Giada²³,Morisaki Hiroko⁴⁵⁶,MacCarrick Gretchen⁷,Lindsay Mark⁸,Liang David⁹,Mehta Sarju G.¹⁰,Hague Jennifer¹⁰,Verhagen Judith¹¹^ORCID,van de Laar Ingrid¹¹^ORCID,Wessels Marja¹¹,Detisch Yvonne¹²,van Haelst Mieke¹³¹⁴,Baas Annette¹³,Lichtenbelt Klaske¹³,Braun Kees¹⁵,van der Linde Denise¹⁶,Roos-Hesselink Jolien¹⁶,McGillivray George¹⁷,Meester Josephina¹,Maystadt Isabelle¹⁸,Coucke Paul¹⁹,El-Khoury Elie²⁰,Parkash Sandhya²¹,Diness Birgitte²²,Risom Lotte²²,Scurr Ingrid²³,Hilhorst-Hofstee Yvonne²⁴,Morisaki Takayuki⁴⁵,Richer Julie²⁵,Désir Julie²⁶,Kempers Marlies²⁷,Rideout Andrea L.²⁸,Horne Gabrielle²⁹,Bennett Chris³⁰,Rahikkala Elisa³¹,Vandeweyer Geert¹,Alaerts Maaike¹,Verstraeten Aline¹,Dietz Hal⁷,Van Laer Lut¹,Loeys Bart¹²⁷

Affiliation:

1. Center of Medical Genetics; University of Antwerp and Antwerp University Hospital; Antwerp Belgium

2. Medical Genetics Unit; Department of Medical and Surgical Sciences; University of Bologna, Policlinico Sant'Orsola-Malpighi; Bologna Italy

3. Department of Molecular and Clinical Sciences; Marche Polytechnic University; Ancona Italy

4. Department of Bioscience and Genetics; National Cerebral and Cardiovascular Center Research Institute; Suita Osaka Japan

5. Department of Molecular Pathophysiology; Osaka University Graduate School of Pharmaceutical Sciences; Suita Osaka Japan

6. Department of Medical Genetics; Sakakibara Heart Institute; Tokyo Japan

7. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

8. Thoracic Aortic Center, Departments of Medicine and Pediatrics; Massachusetts General Hospital; Harvard Medical School; Boston

9. Cardiovascular Medicine; Stanford University Medical Center; Stanford California

10. East Anglian Regional Genetics Service; Cambridge University Hospitals NHS Foundation Trust; Addenbrooke's Hospital; Cambridge UK

11. Department of Clinical Genetics; Erasmus University Medical Center; Rotterdam The Netherlands

12. Department of Clinical Genetics; Maastricht University Medical Center; Maastricht The Netherlands

13. Department of Medical Genetics; University Medical Center Utrecht; Utrecht The Netherlands

14. Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands

15. Department of Child Neurology; Brain Center Rudolf Magnus; University Medical Center Utrecht; Utrecht The Netherlands

16. Department of Cardiology; Erasmus Medical Center; Rotterdam The Netherlands

17. Victorian Clinical Genetics Services; Murdoch Children's Research Institute; Melbourne Australia

18. Centre de Génétique Humaine; Institut de Pathologie et de Génétique (IPG); Gosselies (Charleroi) Belgium

19. Center for Medical Genetics; Ghent University Hospital and Ghent University; Ghent Belgium

20. Department of Diagnostic Cardiology; Clinique St Luc; Bouge (Namur) Belgium

21. Department of Pediatrics; Maritime Medical Genetics Service; IWK Health Centre; Dalhousie University; Halifax Nova Scotia Canada

22. Department of Clinical Genetics, Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark

23. Department of Clinical Genetics; St. Michael's Hospital; Bristol UK

24. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

25. Department of Medical Genetics, Children's Hospital of Eastern Ontario; Children's Hospital of Eastern Ontario Research Institute; Ottawa Ontario Canada

26. Centre de Génétique Humaine, Hôpital Erasme; Université Libre de Bruxelles; Belgium

27. Department of Human Genetics; Radboud University Nijmegen Medical Center; Nijmegen The Netherlands

28. Maritime Medical Genetics Service; IWK Health Centre; Halifax Nova Scotia Canada

29. Department of Medicine (Cardiology) and School of Biomedical Engineering; Dalhousie University; Halifax Nova Scotia Canada

30. Department of Clinical Genetics; Chapel Allerton Hospital; Leeds Teaching Hospitals NHS Trust; Leeds UK

31. Department of Clinical Genetics; Oulu University Hospital, University of Oulu; Oulu Finland

Funder

Universiteit Antwerpen

Hartstichting

Fondation Leducq

Fonds Wetenschappelijk Onderzoek

H2020 European Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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4. Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apoptosis in TGF-beta(2)-knockout mice;Bartram;Circulation,2001

5. Both SMAD2 and SMAD3 mediate activin-stimulated expression of the follicle-stimulating hormone beta subunit in mouse gonadotrope cells;Bernard;Molecular Endocrinology,2004

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