Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects-Reference-Cited by-同舟云学术

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Published:2015-10-12 Issue:12 Volume:36 Page:1113-1127
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Machado Rajiv D.¹,Southgate Laura²³,Eichstaedt Christina A.⁴⁵,Aldred Micheala A.⁶,Austin Eric D.⁷,Best D. Hunter⁸⁹,Chung Wendy K.¹⁰,Benjamin Nicola⁴,Elliott C. Gregory¹¹,Eyries Mélanie¹²¹³¹⁴,Fischer Christine⁵,Gräf Stefan¹⁵¹⁶,Hinderhofer Katrin⁵,Humbert Marc¹⁷¹⁸¹⁹,Keiles Steven B.²⁰,Loyd James E.²¹,Morrell Nicholas W.¹⁵²²,Newman John H.²¹,Soubrier Florent¹²¹³¹⁴,Trembath Richard C.²,Viales Rebecca Rodríguez⁴⁵,Grünig Ekkehard⁴

Affiliation:

1. School of Life Sciences; University of Lincoln; Lincoln United Kingdom

2. Barts and The London School of Medicine and Dentistry; Queen Mary University of London; London United Kingdom

3. Division of Genetics & Molecular Medicine; King's College London; London United Kingdom

4. Centre for Pulmonary Hypertension; Thoraxclinic at the University Hospital Heidelberg; Heidelberg Germany

5. Institute of Human Genetics; Heidelberg University; Heidelberg Germany

6. Genomic Medicine Institute; Cleveland Clinic; Cleveland Ohio

7. Department of Pediatrics; Vanderbilt University Medical Center; Nashville Tennessee

8. Department of Pathology; University of Utah School of Medicine; Salt Lake City Utah

9. ARUP Institute for Clinical and Experimental Pathology; ARUP Laboratories; Salt Lake City Utah

10. Departments of Pediatrics and Medicine; Columbia University Medical Center; New York, New York

11. Departments of Medicine; Intermountain Medical Center and the University of Utah School of Medicine; Salt Lake City Utah

12. Unité Mixte de Recherche en Santé (UMR_S 1166); Université Pierre and Marie Curie Université Paris 06 (UPMC) and Institut National de la Santé et de la Recherche Médicale (INSERM); Paris France

13. Genetics Department; Hôpital Pitié-Salpêtrière; Assistance Publique-Hôpitaux de Paris (AP-HP); Paris France

14. Institute for Cardiometabolism and Nutrition (ICAN); Paris France

15. Department of Medicine; University of Cambridge; Cambridge United Kingdom

16. Department of Haematology; University of Cambridge; Cambridge United Kingdom

17. Université Paris-Sud; Faculté de Médecine; Paris France

18. Département Hospitalo-Universitaire (DHU) Thorax Innovation (TORINO); Service de Pneumologie; Hôpital Bicêtre; AP-HP; Paris France

19. INSERM UMR_S 999; Laboratoire d'Excellence en Recherche sur le Médicament et l'Innovation Thérapeutique (LERMIT); Centre Chirurgical Marie Lannelongue; Paris France

20. Quest Diagnostics; Action from Insight; San Juan Capistrano California

21. Department of Medicine; Vanderbilt University School of Medicine; Nashville Tennessee

22. Addenbrooke's & Papworth Hospitals; Cambridge United Kingdom

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22904/fullpdf

Reference101 articles.

1. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia;Abdalla;Eur Respir J,2004

2. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet,2013