换一批
第一作者：
Stefan,Gräf
第一单位：
Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom. sg550@cam.ac.uk.;Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom. sg550@cam.ac.uk.;NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom. sg550@cam.ac.uk.
作者：
Stefan,Gräf [1]
;
Matthias,Haimel [2]
;
Marta,Bleda [3]
;
Charaka,Hadinnapola [3]
;
Laura,Southgate [4]
;
Wei,Li [3]
;
Joshua,Hodgson [3]
;
Bin,Liu [3]
;
Richard M,Salmon [3]
;
Mark,Southwood [5]
;
Rajiv D,Machado [6]
;
Jennifer M,Martin [2]
;
Carmen M,Treacy [7]
;
Katherine,Yates [2]
;
Louise C,Daugherty [8]
;
Olga,Shamardina [8]
;
Deborah,Whitehorn [8]
;
Simon,Holden [9]
;
Micheala,Aldred [10]
;
Harm J,Bogaard [11]
;
Colin,Church [12]
;
Gerry,Coghlan [13]
;
Robin,Condliffe [14]
;
Paul A,Corris [15]
;
Cesare,Danesino [16]
;
Mélanie,Eyries [17]
;
Henning,Gall [18]
;
Stefano,Ghio [19]
;
Hossein-Ardeschir,Ghofrani [20]
;
J Simon R,Gibbs [21]
;
Barbara,Girerd [22]
;
Arjan C,Houweling [11]
;
Luke,Howard [23]
;
Marc,Humbert [22]
;
David G,Kiely [14]
;
Gabor,Kovacs [24]
;
Robert V,MacKenzie Ross [25]
;
Shahin,Moledina [26]
;
David,Montani [22]
;
Michael,Newnham [3]
;
Andrea,Olschewski [27]
;
Horst,Olschewski [24]
;
Andrew J,Peacock [12]
;
Joanna,Pepke-Zaba [5]
;
Inga,Prokopenko [23]
;
Christopher J,Rhodes [23]
;
Laura,Scelsi [19]
;
Werner,Seeger [18]
;
Florent,Soubrier [17]
;
Dan F,Stein [3]
;
Jay,Suntharalingam [25]
;
Emilia M,Swietlik [3]
;
Mark R,Toshner [3]
;
David A,van Heel [28]
;
Anton,Vonk Noordegraaf [11]
;
Quinten,Waisfisz [11]
;
John,Wharton [23]
;
Stephen J,Wort [29]
;
Willem H,Ouwehand [8]
;
Nicole,Soranzo [30]
;
Allan,Lawrie [31]
;
Paul D,Upton [3]
;
Martin R,Wilkins [23]
;
Richard C,Trembath [32]
;
Nicholas W,Morrell [33]
作者单位：
Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom. sg550@cam.ac.uk.;Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom. sg550@cam.ac.uk.;NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom. sg550@cam.ac.uk.
[1]
Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.;Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.;NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
[2]
Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.
[3]
Molecular and Clinical Sciences Research Institute, St George's, University of London, London, SW17 0RE, United Kingdom.;Division of Genetics & Molecular Medicine, King's College London, London, WC2R 2LS, United Kingdom.
[4]
Royal Papworth Hospital, Papworth Everard, Cambridge, CB23 3RE, United Kingdom.
[5]
Institute of Medical and Biomedical Education, St George's University of London, London, SW17 0RE, United Kingdom.
[6]
Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom.;Royal Papworth Hospital, Papworth Everard, Cambridge, CB23 3RE, United Kingdom.
[7]
Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.;NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom.
[8]
Addenbrooke's Hospital, Cambridge, CB2 0QQ, United Kingdom.
[9]
Cleveland Clinic, Cleveland, Ohio, 44195, United States.
[10]
VU University Medical Center, Amsterdam, 1007 MB, The Netherlands.
[11]
Golden Jubilee National Hospital, Glasgow, G81 4DY, United Kingdom.
[12]
Royal Free Hospital, London, NW3 2QG, United Kingdom.
[13]
Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, S10 2JF, United Kingdom.
[14]
University of Newcastle, Newcastle, NE1 7RU, United Kingdom.
[15]
Department of Molecular Medicine, University of Pavia, Pavia, 27100, Italy.;Fondazione IRCCS Policlinico San Matteo, Pavia, 27100, Italy.
[16]
Département de génétique, hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, and UMR_S 1166-ICAN, INSERM, UPMC Sorbonne Universités, Paris, 75252, France.
[17]
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.
[18]
Fondazione IRCCS Policlinico San Matteo, Pavia, 27100, Italy.
[19]
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.;Imperial College London, London, SW7 2AZ, United Kingdom.
[20]
National Heart & Lung Institute, Imperial College London, London, SW3 6LY, United Kingdom.
[21]
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.
[22]
Imperial College London, London, SW7 2AZ, United Kingdom.
[23]
Ludwig Boltzmann Institute for Lung Vascular Research, Graz, 8010, Austria.;Medical University of Graz, Graz, 8036, Austria.
[24]
Royal United Hospitals Bath NHS Foundation Trust, Bath, BA1 3NG, United Kingdom.
[25]
Great Ormond Street Hospital, London, WC1N 3JH, United Kingdom.
[26]
Ludwig Boltzmann Institute for Lung Vascular Research, Graz, 8010, Austria.
[27]
Blizard Institute, Queen Mary University of London, London, E1 2AT, United Kingdom.
[28]
Imperial College London, London, SW7 2AZ, United Kingdom.;Royal Brompton Hospital, London, SW3 6NP, United Kingdom.
[29]
Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, United Kingdom.;Wellcome Trust Sanger Institute, Hinxton, CB10 1SA, United Kingdom.
[30]
Department of Infection, Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, S10 2RX, United Kingdom.
[31]
Division of Genetics & Molecular Medicine, King's College London, London, WC2R 2LS, United Kingdom.
[32]
Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, United Kingdom. nwm23@cam.ac.uk.;NIHR BioResource-Rare Diseases, Cambridge, CB2 0PT, United Kingdom. nwm23@cam.ac.uk.
[33]
医学主题词
腺苷三磷酸酶类(Adenosine Triphosphatases);成年人(Adult);水通道蛋白质1(Aquaporin 1);碱基序列(Base Sequence);骨形态发生蛋白受体, Ⅱ型(Bone Morphogenetic Protein Receptors, Type II);病例对照研究(Case-Control Studies);女(雌)性(Female);基因表达调控(Gene Expression Regulation);疾病遗传易感性(Genetic Predisposition to Disease);生长分化因子2(Growth Differentiation Factor 2);生长分化因子类(Growth Differentiation Factors);HEK293细胞(HEK293 Cells);人类(Humans);男(雄)性(Male);膜转运蛋白质类(Membrane Transport Proteins);模型, 分子(Models, Molecular);突变(Mutation);预后(Prognosis);SOXF转录因子类(SOXF Transcription Factors);信号传导(Signal Transduction);转化生长因子β(Transforming Growth Factor beta)
DOI
10.1038/s41467-018-03672-4
PMID
29650961
发布时间
2025-05-30
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Nature communications
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