Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension-Reference-Cited by-同舟云学术

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension

Published:2018-10 Issue:10 Volume:11 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ Genom Precis Med.

Author:

Bohnen Michael S.¹,Ma Lijiang²,Zhu Na²³,Qi Hongjian⁴³,McClenaghan Conor⁵,Gonzaga-Jauregui Claudia⁶,Dewey Frederick E.⁶,Overton John D.⁶,Reid Jeffrey G.⁶,Shuldiner Alan R.⁶,Baras Aris⁶,Sampson Kevin J.¹,Bleda Marta⁷,Hadinnapola Charaka⁷,Haimel Matthias⁷,Bogaard Harm J.⁸,Church Colin⁹,Coghlan Gerry¹⁰,Corris Paul A.¹¹,Eyries Mélanie¹²,Gibbs J. Simon R.¹³,Girerd Barbara¹⁴,Houweling Arjan C.⁸,Humbert Marc¹⁴,Guignabert Christophe¹⁴,Kiely David G.¹⁵,Lawrie Allan¹⁶,MacKenzie Ross Rob V.¹⁷,Martin Jennifer M.⁷,Montani David¹⁴,Peacock Andrew J.⁹,Pepke-Zaba Joanna¹⁸,Soubrier Florent¹²,Suntharalingam Jay¹⁷,Toshner Mark⁷¹⁸,Treacy Carmen M.⁷,Trembath Richard C.¹⁹,Vonk Noordegraaf Anton⁸,Wharton John²⁰,Wilkins Martin R.²⁰,Wort Stephen J.¹³²¹,Yates Katherine⁷,Gräf Stefan⁷²²,Morrell Nicholas W.⁷,Krishnan Usha²,Rosenzweig Erika B.²,Shen Yufeng⁴³,Nichols Colin G.⁵,Kass Robert S.¹,Chung Wendy K.²

Affiliation:

1. Department of Pharmacology, College of Physicians and Surgeons (M.S.B., K.J.S., R.S.K.), Columbia University, New York, NY.

2. Department of Pediatrics, College of Physicians and Surgeons (L.M., N.Z., U.K., E.B.R., W.K.C.), Columbia University, New York, NY.

3. Department of Systems Biology (N.Z., H.Q., Y.S.), Columbia University, New York, NY.

4. Department of Applied Physics and Applied Mathematics (H.Q., Y.S.), Columbia University, New York, NY.

5. Department of Cell Biology and Physiology (C.M., C.G.N.) and Center for the Investigation of Membrane Excitability Diseases (C.M., C.G.N.), Washington University School of Medicine, Washington University in St. Louis, MO.

6. Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc, Tarrytown, NY (C.G.-J., F.E.D., J.D.O., J.G.R., A.R.S., A.B.).

7. Department of Medicine (M.B., C.H., M.H., J.M.M., M.T., C.M.T., K.Y., S.G., N.W.M.), University of Cambridge, United Kingdom.

8. VU University Medical Center, Amsterdam, the Netherlands (H.J.B., A.C.H., A.V.N.).

9. Golden Jubilee National Hospital, Glasgow, Scotland (C.C., A.J.P.).

10. Royal Free Hospital, London, England (G.C.).

11. Newcastle University (P.A.C.) and Newcastle upon Tyne Hospitals National Health Service Foundation Trust (P.A.C.), United Kingdom.

12. Dépat de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (M.E., F.S.) and UMR_S 1166-ICAN, INSERM (Institut National de la Santé et de la Recherche Médicale) (M.E., F.S.), UPMC (Pierre and Marie Curie University) Sorbonne Universités, France.

13. National Heart and Lung Institute, Imperial College London, United Kingdom (J.S.R.G., S.J.W.).

14. AP-HP (Assistance Publique – Hôpitaux de Paris), Centre de référence de l’hypertension pulmonaire sévère, INSERM UMR_S 999, Hôpital Bicêtre, Université Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France (B.G., M.H., C.G., D.M.).

15. Sheffield Clinical Research Facility, Royal Hallamshire, Sheffield, United Kingdom (D.G.K.).

16. Department of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom (A.L.).

17. Royal United Bath Hospitals, Bath, United Kingdom (R.V.M.R., J.S.).

18. Papworth Hospital, Cambridge, United Kingdom (J.P.-Z., M.T.).

19. Division of Genetics and Molecular Medicine, King’s College London, London, England (R.C.T.).

20. Department of Medicine, Imperial College London, Hammersmith Campus, London, United Kingdom (J.W., M.R.W.).

21. Royal Brompton Hospital, London, United Kingdom (S.J.W.).

22. Department of Hematology (S.G.), Addenbrookes Hospital, University of Cambridge, United Kingdom.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference33 articles.

1. Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

2. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family

3. An epidemiological study of pulmonary arterial hypertension

4. A Novel Channelopathy in Pulmonary Arterial Hypertension

5. The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery

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