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Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1416 - 16
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-beta... 
SOX17 | GENE | ANGIOGENESIS | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | BMP9 | ASSOCIATION | EXPRESSION | NONSENSE MUTATION | BETA-RECEPTOR | CAVEOLIN-1 | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Lung | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Gene sequencing | Index Medicus
Journal Article
Science (New York, N.Y.), ISSN 0036-8075, 05/2019, Volume 364, Issue 6442, pp. 749 - 749
Journal Article
by Farmery, JHR and Smith, ML and Lynch, AG and Huissoon, A and Furnell, A and Mead, A and Levine, AP and Manzur, A and Thrasher, A and Greenhalgh, A and Parker, A and Sanchis-Juan, A and Richter, A and Gardham, A and Lawrie, A and Sohal, A and Creaser-Myers, A and Frary, A and Greinacher, A and Themistocleous, A and Peacock, AJ and Marshall, A and Mumford, A and Rice, A and Webster, A and Brady, A and Koziell, A and Manson, A and Chandra, A and Hensiek, A and in't Veld, AH and Maw, A and Kelly, AM and Moore, A and Noordegraaf, AV and Attwood, A and Herwadkar, A and Ghofrani, A and Houweling, AC and Girerd, B and Furie, B and Treacy, CM and Millar, CM and Sewell, C and Roughley, C and Titterton, C and Williamson, C and Hadinnapola, C and Deshpande, C and Toh, CH and Bacchelli, C and Patch, C and Van Geet, C and Babbs, C and Bryson, C and Penkett, CJ and Rhodes, CJ and Watt, C and Bethune, C and Booth, C and Lentaigne, C and McJannet, C and Church, C and French, C and Samarghitean, C and Halmagyi, C and Gale, D and Greene, D and Hart, D and Allsup, D and Bennett, D and Edgar, D and Kiely, DG and Gosal, D and Perry, DJ and Keeling, D and Montani, D and Shipley, D and Whitehorn, D and Fletcher, D and Krishnakumar, D and Grozeva, D and Kumararatne, D and Thompson, D and Josifova, D and Maher, E and Wong, EKS and Murphy, E and Dewhurst, E and Louka, E and Rosser, E and Chalmers, E and Colby, E and Drewe, E and McDermott, E and Thomas, E and Staples, E and Clement, E and Matthews, E and Wakeling, E and ... and NIHR BioResource-Rare Dis
SCIENTIFIC REPORTS, ISSN 2045-2322, 09/2018, Volume 8
Journal Article
by Rhodes, Christopher J and Batai, Ken and Bleda, Marta and Haimel, Matthias and Southgate, Laura and Germain, Marine and Pauciulo, Michael W and Hadinnapola, Charaka and Aman, Jurjan and Girerd, Barbara and Arora, Amit and Knight, Jo and Hanscombe, Ken B and Karnes, Jason H and Kaakinen, Marika and Gall, Henning and Ulrich, Anna and Harbaum, Lars and Cebola, Inês and Ferrer, Jorge and Lutz, Katie and Swietlik, Emilia M and Ahmad, Ferhaan and Amouyel, Philippe and Archer, Stephen L and Argula, Rahul and Austin, Eric D and Badesch, David and Bakshi, Sahil and Barnett, Christopher and Benza, Raymond and Bhatt, Nitin and Bogaard, Harm J and Burger, Charles D and Chakinala, Murali and Church, Colin and Coghlan, John G and Condliffe, Robin and Corris, Paul A and Danesino, Cesare and Debette, Stéphanie and Elliott, C Gregory and Elwing, Jean and Eyries, Melanie and Fortin, Terry and Franke, Andre and Frantz, Robert P and Frost, Adaani and Garcia, Joe G N and Ghio, Stefano and Ghofrani, Hossein-Ardeschir and Gibbs, J Simon R and Harley, John and He, Hua and Hill, Nicholas S and Hirsch, Russel and Houweling, Arjan C and Howard, Luke S and Ivy, Dunbar and Kiely, David G and Klinger, James and Kovacs, Gabor and Lahm, Tim and Laudes, Matthias and Machado, Rajiv D and MacKenzie Ross, Robert V and Marsolo, Keith and Martin, Lisa J and Moledina, Shahin and Montani, David and Nathan, Steven D and Newnham, Michael and Olschewski, Horst and Olschewski, Andrea and Oudiz, Ronald J and Ouwehand, Willem H and Peacock, Andrew J and Pepke-Zaba, Joanna and Rehman, Zia and Robbins, Ivan and Roden, Dan M and Rosenzweig, Erika B and Saydain, Ghulam and Scelsi, Laura and Schilz, Robert and Seeger, Werner and Shaffer, Christian M and Simms, Robert W and Simon, Marc and Sitbon, Olivier and Suntharalingam, Jay and Tang, Haiyang and Tchourbanov, Alexander Y and Thenappan, Thenappan and Torres, Fernando and Toshner, Mark R and Treacy, Carmen M and Vonk Noordegraaf, Anton and Waisfisz, Quinten and Walsworth, Anna K and ... and US PAH Biobank Consortium and UK PAH Cohort Study Consortium and UK NIHR Bioresource Rare Dis Conso and UK NIHR BioResource Rare Diseases Consortium
The Lancet Respiratory Medicine, ISSN 2213-2600, 03/2019, Volume 7, Issue 3, pp. 227 - 238
Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly... 
SOX17 | ENDODERM FORMATION | RESPIRATORY SYSTEM | SUSCEPTIBILITY | DISEASE | ALPHA | CRITICAL CARE MEDICINE | Life Sciences
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1 - 4
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. 
Ploidy | Genomes
Journal Article
Circulation, ISSN 0009-7322, 12/2017, Volume 136, Issue 25, pp. 2451 - 2467
BACKGROUND: Pulmonary arterial hypertension (PAH) is characterized by abnormal growth and enhanced glycolysis of pulmonary artery endothelial cells. However,... 
microRNAs | hypertension, pulmonary | endothelial cells | metabolism | endothelial progenitor cells | glycolysis | APOPTOSIS | COACTIVATOR | CARDIAC & CARDIOVASCULAR SYSTEMS | hypertension pulmonary | TUMOR | INHIBITION | MIR-124 | GROWTH | PERIPHERAL VASCULAR DISEASE | EXPRESSION | Cell Proliferation | MicroRNAs - antagonists & inhibitors | Humans | MicroRNAs - metabolism | Polypyrimidine Tract-Binding Protein - antagonists & inhibitors | Familial Primary Pulmonary Hypertension - metabolism | Lim Kinases - metabolism | Monocarboxylic Acid Transporters - metabolism | RNA Interference | Smad5 Protein - metabolism | Bone Morphogenetic Protein Receptors, Type II - antagonists & inhibitors | Disease Models, Animal | Familial Primary Pulmonary Hypertension - pathology | Bone Morphogenetic Protein Receptors, Type II - genetics | Pyruvate Kinase - metabolism | Endothelial Cells - metabolism | Cells, Cultured | Heterogeneous-Nuclear Ribonucleoproteins - metabolism | Rats | Familial Primary Pulmonary Hypertension - genetics | Heterogeneous-Nuclear Ribonucleoproteins - antagonists & inhibitors | Polypyrimidine Tract-Binding Protein - metabolism | Bone Morphogenetic Protein Receptors, Type II - metabolism | Symporters - metabolism | Heterogeneous-Nuclear Ribonucleoproteins - genetics | Animals | Endothelial Cells - cytology | Glycolysis | Smad1 Protein - metabolism | MicroRNAs - genetics | Antagomirs - metabolism | Pyruvate Kinase - genetics | Polypyrimidine Tract-Binding Protein - genetics | RNA, Small Interfering - metabolism | Index Medicus | Abridged Index Medicus
Journal Article
Thorax, ISSN 0040-6376, 12/2016, Volume 71, Issue Suppl 3, pp. A14 - A14
Idiopathic Pulmonary Fibrosis (IPF) is a progressive, scarring lung disease with a poor prognosis and median survival of 3 years. It is a heterogeneous... 
Journal Article
Circulation, ISSN 0009-7322, 12/2016
BACKGROUND—Pulmonary arterial hypertension (PAH) is a heterogeneous disorder with high mortality. METHODS—We conducted a comprehensive study of plasma... 
Journal Article
Thorax, ISSN 0040-6376, 12/2014, Volume 69, Issue Suppl 2, pp. A149 - A150
Journal Article
by Ito, Yoko and Carss, Keren J and Duarte, Sofia T and Hartley, Taila and Keren, Boris and Kurian, Manju A and Marey, Isabelle and Charles, Perinne and Mendonça, Carla and Nava, Caroline and Pfundt, Rolph and Sanchis-Juan, Alba and van Bokhoven, Hans and van Essen, Anthony and van Ravenswaaij-Arts, Conny and Aitman, Timothy and Bennett, David and Caulfield, Mark and Chinnery, Patrick and Gale, Daniel and Koziell, Ania and Kuijpers, Taco W and Laffan, Michael A and Maher, Eamonn and Markus, Hugh S and Morrell, Nicholas W and Ouwehand, Willem H and Perry, David J and Raymond, F. Lucy and Roberts, Irene and Smith, Kenneth G.C and Thrasher, Adrian and Watkins, Hugh and Williamson, Catherine and Woods, Geoffrey and Ashford, Sofie and Bradley, John R and Fletcher, Debra and Hammerton, Tracey and James, Roger and Kingston, Nathalie and Penkett, Christopher J and Stirrups, Kathleen and Veltman, Marijke and Young, Tim and Brown, Matthew and Clements-Brod, Naomi and Davis, John and Dewhurst, Eleanor and Dolling, Helen and Erwood, Marie and Frary, Amy and Linger, Rachel and Martin, Jennifer M and Papadia, Sofia and Rehnstrom, Karola and Stark, Hannah and Allsup, David and Austin, Steve and Bakchoul, Tamam and Bariana, Tadbir K and Bolton-Maggs, Paula and Chalmers, Elizabeth and Collins, Janine and Collins, Peter and Erber, Wendy N and Everington, Tamara and Favier, Remi and Freson, Kathleen and Furie, Bruce and Gattens, Michael and Gebhart, Johanna and Gomez, Keith and Greene, Daniel and Greinacher, Andreas and Gresele, Paolo and Hart, Daniel and Heemskerk, Johan W.M and Henskens, Yvonne and Kazmi, Rashid and Keeling, David and Kelly, Anne M and Lambert, Michele P and Lentaigne, Claire and Liesner, Ri and Makris, Mike and Mangles, Sarah and Mathias, Mary and Millar, Carolyn M and Mumford, Andrew and Nurden, Paquita and Payne, Jeanette and Pasi, John and Peerlinck, Kathelijne and Revel-Vilk, Shoshana and Richards, Michael and Rondina, Matthew and Roughley, Catherine and Schulman, Sol and Schulze, Harald and ... and Care4Rare Canada Consortium and NIHR BioResource
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 144 - 153
Journal Article