Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf, Stefan; Haimel, Matthias; Bleda, Marta; Hadinnapola, Charaka; Southgate, Laura; Li, Wei; Hodgson, Joshua; Liu, Bin; Salmon, Richard M; Southwood, Mark; Machado, Rajiv D; Martin, Jennifer M; Treacy, Carmen M; Yates, Katherine; Daugherty, Louise C; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Aldred, Micheala; Bogaard, Harm J; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A; Danesino, Cesare; Eyries, Mélanie; Gall, Henning; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J Simon R; Girerd, Barbara; Houweling, Arjan C; Howard, Luke; Humbert, Marc; Kiely, David G; Kovacs, Gabor; MacKenzie Ross, Robert V; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew J; Pepke-Zaba, Joanna; Prokopenko, Inga; Rhodes, Christopher J; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Stein, Dan F

Gräf, Stefan; Haimel, Matthias; Bleda, Marta; Hadinnapola, Charaka; Southgate, Laura; Li, Wei; Hodgson, Joshua; Liu, Bin; Salmon, Richard M; Southwood, Mark; Machado, Rajiv D; Martin, Jennifer M; Treacy, Carmen M; Yates, Katherine; Daugherty, Louise C; Shamardina, Olga; Whitehorn, Deborah; Holden, Simon; Aldred, Micheala; Bogaard, Harm J; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A; Danesino, Cesare; Eyries, Mélanie; Gall, Henning; Ghio, Stefano; Ghofrani, Hossein-Ardeschir; Gibbs, J Simon R; Girerd, Barbara; Houweling, Arjan C; Howard, Luke; Humbert, Marc; Kiely, David G; Kovacs, Gabor; MacKenzie Ross, Robert V; Moledina, Shahin; Montani, David; Newnham, Michael; Olschewski, Andrea; Olschewski, Horst; Peacock, Andrew J; Pepke-Zaba, Joanna; Prokopenko, Inga; Rhodes, Christopher J; Scelsi, Laura; Seeger, Werner; Soubrier, Florent; Stein, Dan F.

Affiliation

Gräf S; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom. sg550@cam.ac.uk.
Haimel M; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom. sg550@cam.ac.uk.
Bleda M; NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom. sg550@cam.ac.uk.
Hadinnapola C; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Southgate L; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.
Li W; NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
Hodgson J; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Liu B; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Salmon RM; Molecular and Clinical Sciences Research Institute, St George's, University of London, London, SW17 0RE, United Kingdom.
Southwood M; Division of Genetics & Molecular Medicine, King's College London, London, WC2R 2LS, United Kingdom.
Machado RD; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Martin JM; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Treacy CM; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Yates K; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Daugherty LC; Royal Papworth Hospital, Papworth Everard, Cambridge, CB23 3RE, United Kingdom.
Shamardina O; Institute of Medical and Biomedical Education, St George's University of London, London, SW17 0RE, United Kingdom.
Whitehorn D; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Holden S; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.
Aldred M; NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
Bogaard HJ; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Church C; Royal Papworth Hospital, Papworth Everard, Cambridge, CB23 3RE, United Kingdom.
Coghlan G; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
Condliffe R; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.
Corris PA; NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
Danesino C; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.
Eyries M; NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
Gall H; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.
Ghio S; NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
Ghofrani HA; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.
Gibbs JSR; NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
Girerd B; Addenbrooke's Hospital, Cambridge, CB2 0QQ, United Kingdom.
Houweling AC; Cleveland Clinic, Cleveland, Ohio, 44195, United States.
Howard L; VU University Medical Center, Amsterdam, 1007 MB, The Netherlands.
Humbert M; Golden Jubilee National Hospital, Glasgow, G81 4DY, United Kingdom.
Kiely DG; Royal Free Hospital, London, NW3 2QG, United Kingdom.
Kovacs G; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, S10 2JF, United Kingdom.
MacKenzie Ross RV; University of Newcastle, Newcastle, NE1 7RU, United Kingdom.
Moledina S; Department of Molecular Medicine, University of Pavia, Pavia, 27100, Italy.
Montani D; Fondazione IRCCS Policlinico San Matteo, Pavia, 27100, Italy.
Newnham M; Département de génétique, hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, and UMR_S 1166-ICAN, INSERM, UPMC Sorbonne Universités, Paris, 75252, France.
Olschewski A; University of Giessen and Marburg Lung Center (UGMLC), member of the German Center for Lung Research (DZL) and of the Excellence Cluster Cardio-Pulmonary System (ECCCPS), Giessen, 35392, Germany.
Olschewski H; Fondazione IRCCS Policlinico San Matteo, Pavia, 27100, Italy.
Peacock AJ; University of Giessen and Marburg Lung Center (UGMLC), member of the German Center for Lung Research (DZL) and of the Excellence Cluster Cardio-Pulmonary System (ECCCPS), Giessen, 35392, Germany.
Pepke-Zaba J; Imperial College London, London, SW7 2AZ, United Kingdom.
Prokopenko I; National Heart & Lung Institute, Imperial College London, London, SW3 6LY, United Kingdom.
Rhodes CJ; Université Paris-Sud, Faculté de Médecine, Université Paris-Saclay; AP-HP, Service de Pneumologie, Centre de référence de l'hypertension pulmonaire; INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre, Paris, 94270, France.
Scelsi L; VU University Medical Center, Amsterdam, 1007 MB, The Netherlands.
Seeger W; Imperial College London, London, SW7 2AZ, United Kingdom.
Soubrier F; Université Paris-Sud, Faculté de Médecine, Université Paris-Saclay; AP-HP, Service de Pneumologie, Centre de référence de l'hypertension pulmonaire; INSERM UMR_S 999, Hôpital Bicêtre, Le Kremlin-Bicêtre, Paris, 94270, France.
Stein DF; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, S10 2JF, United Kingdom.

Nat Commun ; 9(1): 1416, 2018 04 12.

Article in En | MEDLINE | ID: mdl-29650961

Subject(s)

Adenosine Triphosphatases/chemistry; Aquaporin 1/chemistry; Familial Primary Pulmonary Hypertension/genetics; Growth Differentiation Factors/chemistry; Membrane Transport Proteins/chemistry; Mutation; SOXF Transcription Factors/chemistry; Adenosine Triphosphatases/genetics; Adenosine Triphosphatases/metabolism; Adult; Aquaporin 1/genetics; Aquaporin 1/metabolism; Base Sequence; Bone Morphogenetic Protein Receptors, Type II/genetics; Bone Morphogenetic Protein Receptors, Type II/metabolism; Case-Control Studies; Familial Primary Pulmonary Hypertension/diagnosis; Familial Primary Pulmonary Hypertension/metabolism; Familial Primary Pulmonary Hypertension/pathology; Female; Gene Expression Regulation; Genetic Predisposition to Disease; Growth Differentiation Factor 2; Growth Differentiation Factors/genetics; Growth Differentiation Factors/metabolism; HEK293 Cells; Humans; Male; Membrane Transport Proteins/genetics; Membrane Transport Proteins/metabolism; Models, Molecular; Prognosis; SOXF Transcription Factors/genetics; SOXF Transcription Factors/metabolism; Signal Transduction; Transforming Growth Factor beta/genetics; Transforming Growth Factor beta/metabolism; Whole Genome Sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Adenosine Triphosphatases / Aquaporin 1 / Growth Differentiation Factors / SOXF Transcription Factors / Familial Primary Pulmonary Hypertension / Mutation Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2018 Type: Article Affiliation country: United kingdom

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