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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
Journal of Clinical Pathology, ISSN 0040-6376, 04/2013, Volume 66, Issue 4, p. 326
Aims To present our experience of prospective telephone consenting for post-mortem CT angiography (PMCT-A) research using HM coroners’ cases. Methods Local... 
Journal Article
Circulation, ISSN 0009-7322, 08/2010, Volume 122, Issue 9, pp. 920 - 927
Journal Article
European Respiratory Journal, ISSN 0903-1936, 12/2014, Volume 44, Issue 6, pp. 1635 - 1645
Journal Article
Journal Article
by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer | Index Medicus
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
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
ISSN 2041-1723, 2018
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... 
Journal Article