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Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.
Bohnen, Michael S; Ma, Lijiang; Zhu, Na; Qi, Hongjian; McClenaghan, Conor; Gonzaga-Jauregui, Claudia; Dewey, Frederick E; Overton, John D; Reid, Jeffrey G; Shuldiner, Alan R; Baras, Aris; Sampson, Kevin J; Bleda, Marta; Hadinnapola, Charaka; Haimel, Matthias; Bogaard, Harm J; Church, Colin; Coghlan, Gerry; Corris, Paul A; Eyries, Mélanie; Gibbs, J Simon R; Girerd, Barbara; Houweling, Arjan C; Humbert, Marc; Guignabert, Christophe; Kiely, David G; Lawrie, Allan; MacKenzie Ross, Rob V; Martin, Jennifer M; Montani, David; Peacock, Andrew J; Pepke-Zaba, Joanna; Soubrier, Florent; Suntharalingam, Jay; Toshner, Mark; Treacy, Carmen M; Trembath, Richard C; Vonk Noordegraaf, Anton; Wharton, John; Wilkins, Martin R; Wort, Stephen J; Yates, Katherine; Gräf, Stefan; Morrell, Nicholas W; Krishnan, Usha; Rosenzweig, Erika B; Shen, Yufeng; Nichols, Colin G; Kass, Robert S; Chung, Wendy K.
Afiliação
  • Bohnen MS; Department of Pharmacology, College of Physicians and Surgeons (M.S.B., K.J.S., R.S.K.), Columbia University, New York, NY.
  • Ma L; 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.
  • Zhu N; 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.
  • Qi H; Department of Systems Biology (N.Z., H.Q., Y.S.), Columbia University, New York, NY.
  • McClenaghan C; Department of Applied Physics and Applied Mathematics (H.Q., Y.S.), Columbia University, New York, NY.
  • Gonzaga-Jauregui C; Department of Systems Biology (N.Z., H.Q., Y.S.), Columbia University, New York, NY.
  • Dewey FE; 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.
  • Overton JD; 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.).
  • Reid JG; 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.).
  • Shuldiner AR; 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.).
  • Baras A; 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.).
  • Sampson KJ; 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.).
  • Bleda M; 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.).
  • Hadinnapola C; Department of Pharmacology, College of Physicians and Surgeons (M.S.B., K.J.S., R.S.K.), Columbia University, New York, NY.
  • Haimel M; 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.
  • Bogaard HJ; 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.
  • Church C; 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.
  • Coghlan G; VU University Medical Center, Amsterdam, the Netherlands (H.J.B., A.C.H., A.V.N.).
  • Corris PA; Golden Jubilee National Hospital, Glasgow, Scotland (C.C., A.J.P.).
  • Eyries M; Royal Free Hospital, London, England (G.C.).
  • Gibbs JSR; Newcastle University (P.A.C.) and Newcastle upon Tyne Hospitals National Health Service Foundation Trust (P.A.C.), United Kingdom.
  • Girerd B; 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.
  • Houweling AC; National Heart and Lung Institute, Imperial College London, United Kingdom (J.S.R.G., S.J.W.).
  • Humbert M; 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.).
  • Guignabert C; VU University Medical Center, Amsterdam, the Netherlands (H.J.B., A.C.H., A.V.N.).
  • Kiely DG; 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.).
  • Lawrie A; 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.).
  • MacKenzie Ross RV; Sheffield Clinical Research Facility, Royal Hallamshire, Sheffield, United Kingdom (D.G.K.).
  • Martin JM; Department of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom (A.L.).
  • Montani D; Royal United Bath Hospitals, Bath, United Kingdom (R.V.M.R., J.S.).
  • Peacock AJ; 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.
  • Pepke-Zaba J; 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.).
  • Soubrier F; Golden Jubilee National Hospital, Glasgow, Scotland (C.C., A.J.P.).
  • Suntharalingam J; Papworth Hospital, Cambridge, United Kingdom (J.P.-Z., M.T.).
  • Toshner M; 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.
  • Treacy CM; Royal United Bath Hospitals, Bath, United Kingdom (R.V.M.R., J.S.).
  • Trembath RC; 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.
  • Vonk Noordegraaf A; Papworth Hospital, Cambridge, United Kingdom (J.P.-Z., M.T.).
  • Wharton J; 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.
  • Wilkins MR; Division of Genetics and Molecular Medicine, King's College London, London, England (R.C.T.).
  • Wort SJ; VU University Medical Center, Amsterdam, the Netherlands (H.J.B., A.C.H., A.V.N.).
  • Yates K; Department of Medicine, Imperial College London, Hammersmith Campus, London, United Kingdom (J.W., M.R.W.).
  • Gräf S; Department of Medicine, Imperial College London, Hammersmith Campus, London, United Kingdom (J.W., M.R.W.).
  • Morrell NW; National Heart and Lung Institute, Imperial College London, United Kingdom (J.S.R.G., S.J.W.).
  • Krishnan U; Royal Brompton Hospital, London, United Kingdom (S.J.W.).
  • Rosenzweig EB; 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.
  • Shen Y; 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.
  • Nichols CG; Department of Hematology (S.G.), Addenbrookes Hospital, University of Cambridge, United Kingdom.
  • Kass RS; 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.
  • Chung WK; 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.
Circ Genom Precis Med ; 11(10): e002087, 2018 10.
Article em En | MEDLINE | ID: mdl-30354297
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Exoma / Receptores de Sulfonilureias / Hipertensão Pulmonar Primária Familiar Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Circ Genom Precis Med Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Exoma / Receptores de Sulfonilureias / Hipertensão Pulmonar Primária Familiar Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Circ Genom Precis Med Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos