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1. Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension

Author

Ulrich, Anna, Wu, Yukyee, Draisma, Harmen, Wharton, John, Swietlik, Emilia M., Cebola, Inês, Vasilaki, Eleni, Balkhiyarova, Zhanna, Jarvelin, Marjo-Riitta, Auvinen, Juha, Herzig, Karl-Heinz, Coghlan, J. Gerry, Lordan, James, Church, Colin, Howard, Luke S., Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen J., Kiely, David G., Condliffe, Robin, Lawrie, Allan, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R., Prokopenko, Inga, and Rhodes, Christopher J.

Published
2024
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2. The six-minute walk test in sarcoidosis associated pulmonary hypertension: Results from an international registry

Author

Gupta, Rohit, Baughman, Robert P., Nathan, Steven D., Wells, Athol U., Kouranos, Vasilis, Alhamad, Esam H., Culver, Daniel A., Barney, Joseph, Carmona, Eva M., Cordova, Francis C., Huitema, Marloes, Scholand, Mary Beth, Wijsenbeek, Marlies, Ganesh, Sivagini, Birring, Surinder S., Price, Laura C., Wort, Stephen John, and Shlobin, Oksana A.

Published
2022
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3. Survival outcomes in EIF2AK4 mutation-associated pulmonary arterial hypertension: seeking clarity in contrast.

Author

Han, Jennie, Kadani, Zehra, Price, Laura C, Kempny, Aleksander, Rawal, Bhavin, Wort, Stephen J, and McCabe, Colm

Subjects
PULMONARY arterial hypertension, SURVIVAL rate, OXYGEN saturation, LUNG volume measurements, CARBON monoxide, TRANSPOSITION of great vessels, PULMONARY hypertension
Abstract

Background Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary arterial hypertension (PAH) characterized by widespread fibrous intimal proliferation of pre-septal pulmonary venules and a lower lung diffusion capacity for carbon monoxide when compared to classical PAH. Mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene have been linked to the development of PVOD, with the worst prognosis seen in homozygous mutation carriers. Case summary We describe two patients with homozygous EIF2AK4-associated PVOD, who despite typical clinical features at presentation have demonstrated a remarkable response to pulmonary vasodilator therapy and comparatively benign clinical courses. Intrapulmonary shunt (IPS) was evident on resting contrast transthoracic echocardiography (CTTE) in both patients undertaken 4 and 36 months following diagnosis. At 2 and 10 years of follow-up, respectively, both patients retain preserved right heart function and remain in the World Health Organization functional class II. This case series contrasts strikingly with prior reports of patients with classical PAH where IPS that develops in response to pulmonary vasodilator treatment has been associated with dramatic reduction in systemic oxygen saturations, necessitating withdrawal of therapy. Discussion In two patients with PVOD associated with homozygous EIF2AK4 mutations, IPS may act to offload the right ventricle with relative preservation of systemic exercise saturations and a more favourable prognosis. Greater use of CTTE in patients with PVOD as well as PAH with lower lung diffusion capacity may lend insight into the clinical and prognostic relevance of IPS in these patient subgroups with otherwise poor prognosis. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Author

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, Suntharalingam, Jay, Swietlik, Emilia M, Toshner, Mark R, van Heel, David A, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J, Ouwehand, Willem H, Soranzo, Nicole, Lawrie, Allan, Upton, Paul D, Wilkins, Martin R, Trembath, Richard C, and Morrell, Nicholas W

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

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor (BMPR2), underlies most heritable forms of PAH. To identify the missing heritability we perform whole-genome sequencing in 1038 PAH index cases and 6385 PAH-negative control subjects. Case-control analyses reveal significant overrepresentation of rare variants in ATP13A3, AQP1 and SOX17, and provide independent validation of a critical role for GDF2 in PAH. We demonstrate familial segregation of mutations in SOX17 and AQP1 with PAH. Mutations in GDF2, encoding a BMPR2 ligand, lead to reduced secretion from transfected cells. In addition, we identify pathogenic mutations in the majority of previously reported PAH genes, and provide evidence for further putative genes. Taken together these findings contribute new insights into the molecular basis of PAH and indicate unexplored pathways for therapeutic intervention.

Published
2018

6. Author Correction: Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Author

Kariotis, Sokratis, Jammeh, Emmanuel, Swietlik, Emilia M., Pickworth, Josephine A., Rhodes, Christopher J., Otero, Pablo, Wharton, John, Iremonger, James, Dunning, Mark J., Pandya, Divya, Mascarenhas, Thomas S., Errington, Niamh, Thompson, A. A. Roger, Romanoski, Casey E., Rischard, Franz, Garcia, Joe G. N., Yuan, Jason X.-J., An, Tae-Hwi Schwantes, Desai, Ankit A., Coghlan, Gerry, Lordan, Jim, Corris, Paul A., Howard, Luke S., Condliffe, Robin, Kiely, David G., Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R., Lawrie, Allan, and Wang, Dennis

Published
2022
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7. Perioperative management of patients with pulmonary hypertension undergoing non-cardiothoracic, non-obstetric surgery: a systematic review and expert consensus statement

Author

Price, Laura C., Martinez, Guillermo, Brame, Aimee, Pickworth, Thomas, Samaranayake, Chinthaka, Alexander, David, Garfield, Benjamin, Aw, Tuan-Chen, McCabe, Colm, Mukherjee, Bhashkar, Harries, Carl, Kempny, Aleksander, Gatzoulis, Michael, Marino, Philip, Kiely, David G., Condliffe, Robin, Howard, Luke, Davies, Rachel, Coghlan, Gerry, Schreiber, Benjamin E., Lordan, James, Taboada, Dolores, Gaine, Sean, Johnson, Martin, Church, Colin, Kemp, Samuel V., Wong, Davina, Curry, Andrew, Levett, Denny, Price, Susanna, Ledot, Stephane, Reed, Anna, Dimopoulos, Konstantinos, and Wort, Stephen John

Published
2021
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8. Right ventricular dysfunction in critically ill COVID-19 ARDS

Author

Bleakley, Caroline, Singh, Suveer, Garfield, Benjamin, Morosin, Marco, Surkova, Elena, Mandalia, Ms Sundhiya, Dias, Bernardo, Androulakis, Emmanouil, Price, Laura C., McCabe, Colm, Wort, Stephen John, West, Cathy, Li, Wei, Khattar, Rajdeep, Senior, Roxy, Patel, Brijesh V., and Price, Susanna

Published
2021
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13. Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Author

Kariotis, Sokratis, Jammeh, Emmanuel, Swietlik, Emilia M., Pickworth, Josephine A., Rhodes, Christopher J., Otero, Pablo, Wharton, John, Iremonger, James, Dunning, Mark J., Pandya, Divya, Mascarenhas, Thomas S., Errington, Niamh, Thompson, A. A. Roger, Romanoski, Casey E., Rischard, Franz, Garcia, Joe G. N., Yuan, Jason X.-J., An, Tae-Hwi Schwantes, Desai, Ankit A., Coghlan, Gerry, Lordan, Jim, Corris, Paul A., Howard, Luke S., Condliffe, Robin, Kiely, David G., Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R., Lawrie, Allan, and Wang, Dennis

Published
2021
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14. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Author

Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe G N, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, MacKenzie Ross, Robert V, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, and Wilkins, Martin R

Published
2019
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16. Pulmonary hypertension in the setting of interstitial lung disease: Approach to management and treatment. A consensus statement from the Pulmonary Vascular Research Institute's Innovative Drug Development Initiative—Group 3 Pulmonary Hypertension

Author

Shlobin, Oksana A., primary, Shen, Eric, additional, Wort, Stephen J., additional, Piccari, Lucilla, additional, Scandurra, John A., additional, Hassoun, Paul M., additional, Nikkho, Sylvia M., additional, and Nathan, Steven D., additional

Published
2024
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21. Pulmonary hemodynamics and transplant‐free survival in sarcoidosis‐associated pulmonary hypertension: Results from an international registry

Author

Gayen, Shameek K., primary, Baughman, Robert P., additional, Nathan, Steven D., additional, Wells, Athol U., additional, Kouranos, Vasilis, additional, Alhamad, Esam H., additional, Culver, Daniel A., additional, Barney, Joseph, additional, Carmoma, Eva M., additional, Cordova, Francis C., additional, Huitema, Marloes, additional, Scholand, Mary Beth, additional, Wijsenbeek, Marlies, additional, Ganesh, Sivagini, additional, Birring, Surinder S., additional, Price, Laura C., additional, Wort, Stephen J., additional, Shlobin, Oksana A., additional, and Gupta, Rohit, additional

Published
2023
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23. Survival in portopulmonary hypertension: Outcomes of the United Kingdom National Pulmonary Arterial Hypertension Registry

Author

Sithamparanathan, Sasiharan, Nair, Arun, Thirugnanasothy, Logan, Coghlan, J. Gerry, Condliffe, Robin, Dimopoulos, Konstantinos, Elliot, Charlie A, Fisher, Andrew J., Gaine, Sean, Gibbs, J. Simon R., Gatzoulis, Michael A., E. Handler, Clive, Howard, Luke S., Johnson, Martin, Kiely, David G., Lordan, James L., Peacock, Andrew J., Pepke-Zaba, Joanna, Schreiber, Benjamin E., Sheares, Karen K.K., Wort, Stephen J., and Corris, Paul A.

Published
2017
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27. Using the Plasma Proteome for Risk Stratifying Patients with Pulmonary Arterial Hypertension

Author

Rhodes, Christopher J, Wharton, John, Swietlik, Emilia M, Harbaum, Lars, Girerd, Barbara, Coghlan, J Gerry, Lordan, James, Church, Colin, Pepke-Zaba, Joanna, Toshner, Mark, Wort, Stephen J, Kiely, David G, Condliffe, Robin, Lawrie, Allan, Gräf, Stefan, Montani, David, Boucly, Athénaïs, Sitbon, Olivier, Humbert, Marc, Howard, Luke S, Morrell, Nicholas W, Wilkins, Martin R, Rhodes, Christopher J [0000-0002-4962-3204], Wharton, John [0000-0001-8110-2575], Harbaum, Lars [0000-0002-9422-6195], Lawrie, Allan [0000-0003-4192-9505], Gräf, Stefan [0000-0002-1315-8873], Montani, David [0000-0002-9358-6922], Boucly, Athénaïs [0000-0001-6246-5557], Humbert, Marc [0000-0003-0703-2892], Wilkins, Martin R [0000-0003-3926-1171], Apollo - University of Cambridge Repository, British Heart Foundation, and The Academy of Medical Sciences

Subjects
Pulmonary and Respiratory Medicine, Pulmonary Arterial Hypertension, Proteome, Respiratory System, Prognosis, Critical Care and Intensive Care Medicine, clinical outcomes, Peptide Fragments, Area Under Curve, Natriuretic Peptide, Brain, Humans, Familial Primary Pulmonary Hypertension, 11 Medical and Health Sciences, Biomarkers
Abstract

Rationale: NT-proBNP (N-terminal pro-brain natriuretic peptide), a biomarker of cardiac origin, is used to risk stratify patients with pulmonary arterial hypertension (PAH). Its limitations include poor sensitivity to early vascular pathology. Other biomarkers of vascular or systemic origin may also be useful in the management of PAH. Objectives: Identify prognostic proteins in PAH that complement NT-proBNP and clinical risk scores. Methods: An aptamer-based assay (SomaScan version 4) targeting 4,152 proteins was used to measure plasma proteins in patients with idiopathic, heritable, or drug-induced PAH from the UK National Cohort of PAH (n = 357) and the French EFORT (Evaluation of Prognostic Factors and Therapeutic Targets in PAH) study (n = 79). Prognostic proteins were identified in discovery-replication analyses of UK samples. Proteins independent of 6-minute-walk distance and NT-proBNP entered least absolute shrinkage and selection operator modeling, and the best combination in a single score was evaluated against clinical targets in EFORT. Measurements and Main Results: Thirty-one proteins robustly informed prognosis independent of NT-proBNP and 6-minute-walk distance in the UK cohort. A weighted combination score of six proteins was validated at baseline (5-yr mortality; area under the curve [AUC], 0.73; 95% confidence interval [CI], 0.63-0.85) and follow-up in EFORT (AUC, 0.84; 95% CI, 0.75-0.94; P = 9.96 × 10-6). The protein score risk stratified patients independent of established clinical targets and risk equations. The addition of the six-protein model score to NT-proBNP improved prediction of 5-year outcomes from AUC 0.762 (0.702-0.821) to 0.818 (0.767-0.869) by receiver operating characteristic analysis (P = 0.00426 for difference in AUC) in the UK replication and French samples combined. Conclusions: The plasma proteome informs prognosis beyond established factors in PAH and may provide a more sensitive measure of therapeutic response.

Published
2022
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28. Pulmonary hemodynamics and transplant-free survival in sarcoidosis-associated pulmonary hypertension:Results from an international registry

Author

Gayen, Shameek K., Baughman, Robert P., Nathan, Steven D., Wells, Athol U., Kouranos, Vasilis, Alhamad, Esam H., Culver, Daniel A., Barney, Joseph, Carmoma, Eva M., Cordova, Francis C., Huitema, Marloes, Scholand, Mary Beth, Wijsenbeek, Marlies, Ganesh, Sivagini, Birring, Surinder S., Price, Laura C., Wort, Stephen J., Shlobin, Oksana A., Gupta, Rohit, Gayen, Shameek K., Baughman, Robert P., Nathan, Steven D., Wells, Athol U., Kouranos, Vasilis, Alhamad, Esam H., Culver, Daniel A., Barney, Joseph, Carmoma, Eva M., Cordova, Francis C., Huitema, Marloes, Scholand, Mary Beth, Wijsenbeek, Marlies, Ganesh, Sivagini, Birring, Surinder S., Price, Laura C., Wort, Stephen J., Shlobin, Oksana A., and Gupta, Rohit

Abstract

Pulmonary hypertension (PH) is a risk factor for mortality in patients with sarcoidosis. Severe PH in chronic lung disease has previously been defined as mean pulmonary arterial pressure (mPAP) ≥ 35 mmHg or mPAP 25 ≥ mmHg with cardiac index (CI) ≤ 2 L/min/m2. However, there is no clear definition denoting severity of sarcoidosis-associated PH (SAPH). We aimed to determine pulmonary hemodynamic cut-off values where transplant-free survival was worse among patients with SAPH. This was a retrospective cohort analysis of the Registry of SAPH database focusing on pulmonary hemodynamic predictors of transplant-free survival among patients with precapillary SAPH. Cox regression was performed to determine which pulmonary hemodynamic values predicted death or lung transplantation. Kaplan−Meier survival analysis was performed on statistically significant predictors to determine pulmonary hemodynamic cut-off values where transplant-free survival was decreased. Decreased transplant-free survival occurred among SAPH patients with mPAP ≥ 40 mmHg and SAPH patients with pulmonary vascular resistance (PVR) ≥ 5 Woods units (WU). Transplant-free survival was not decreased in patients who fulfilled prior criteria of severe PH in chronic lung disease. We identified new cut-offs with decreased transplant-free survival in the SAPH population. Neither cut-off of mPAP ≥ 40 mmHg nor PVR ≥ 5 WU has previously been shown to be associated with decreased transplant-free survival in SAPH. These values could suggest a new definition of severe SAPH. Our PVR findings are in line with the most recent European Society of Cardiology/European Respiratory Society guideline definition of severe PH in chronic lung disease.

Published
2023

31. Inhibition of pyruvate dehydrogenase kinase improves pulmonary arterial hypertension in genetically susceptible patients

Author

Michelakis, Evangelos D., Gurtu, Vikram, Webster, Linda, Barnes, Gareth, Watson, Geoffrey, Howard, Luke, Cupitt, John, Paterson, Ian, Thompson, Richard B., Chow, Kelvin, O’Regan, Declan P., Zhao, Lan, Wharton, John, Kiely, David G., Kinnaird, Adam, Boukouris, Aristeidis E., White, Chris, Nagendran, Jayan, Freed, Darren H., Wort, Stephen J., Gibbs, J. Simon R., and Wilkins, Martin R.

Published
2017
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33. GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Author

Dixon, Peter H., Levine, Adam P., Cebola, Inês, Chan, Melanie M. Y., Amin, Aliya S., Aich, Anshul, Mozere, Monika, Maude, Hannah, Mitchell, Alice L., Zhang, Jun, Adlard, Julian, Ahmed, Munaza, Aitman, Tim, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Astle, William, Attwood, Anthony, Babbs, Chris, Bakchoul, Tamam, Bariana, Tadbir, Barwell, Julian, Bennett, David, Bentley, David, Bierzynska, Agnieszka, Biss, Tina, Bleda, Marta, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Burns, Siobhan, Burren, Oliver, Calleja, Paul, Carr-White, Gerald, Carss, Keren, Casey, Ruth, Caulfield, Mark, Chambers, John, Chambers, Jennifer, Cheng, Floria, Chinnery, Patrick F., Christian, Martin, Church, Colin, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor, Collins, Janine, Collins, Peter, Colombo, Camilla, Condliffe, Robin, Cook, Stuart, Cook, Terry, Cooper, Nichola, Corris, Paul, Crisp-Hihn, Abigail, Curry, Nicola, Danesino, Cesare, Daniels, Matthew, Daugherty, Louise, Davis, John, Deevi, Sri V. V., Dent, Timothy, Dewhurst, Eleanor, Dixon, Peter, Downes, Kate, Drazyk, Anna, Drewe, Elizabeth, Dutt, Tina, Edgar, David, Edwards, Karen, Egner, William, Erber, Wendy, Erwood, Marie, Estiu, Maria C., Evans, Gillian, Evans, Dafydd Gareth, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Fletcher, Debra, Fox, James, Frary, Amy, French, Courtney, Freson, Kathleen, Frontini, Mattia, Gale, Daniel, Gall, Henning, Geoghegan, Claire, Gerighty, Terry, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, Simon, Gilmour, Kimberley, Girerd, Barbara, Goddard, Sarah, Gomez, Keith, Gordins, Pavels, Gosal, David, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, William, Haimel, Matthias, Hall, Matthew, Hanson, Helen, Harkness, Kirsty, Harper, Andrew, Harris, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Hoffmann, Jonathan, Horvath, Rita, Houweling, Arjan, Howard, Luke, Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud, Humbert, Marc, Humphray, Sean, Hunter, Sarah, Hurles, Matthew, Izatt, Louise, James, Roger, Johnson, Sally, Jolles, Stephen, Jolley, Jennifer, Jurkute, Neringa, Kasanicki, Mary, Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kiely, David, Kingston, Nathalie, Klima, Robert, Kostadima, Myrto, Kovacs, Gabor, Koziell, Ania, Kreuzhuber, Roman, Kuijpers, Taco, Kumar, Ajith, Kumararatne, Dinakantha, Kuria, Manju, Laffa, Michael, Lalloo, Fiona, Lamber, Michele, Alle, Hana Lango, Lawrie, Allan, Layton, Mark, Lentaigne, Claire, Levine, Adam, Linger, Rachel, Longhurst, Hilary, Louka, Eleni, Ross, Robert MacKenzie, Madan, Bella, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Mapeta, Rutendo, Marchbank, Kevin, Marks, Stephen, Markus, Hugh S., Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark, Meacham, Stuart, Mead, Adam, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn, Moledina, Shahin, Montani, David, Moor, Tony, Morrell, Nicholas, Muir, Keith, Mumford, Andrew, Newnham, Michael, O'Sullivan, Jennifer, Obaji, Samya, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Ormondroy, Elizabeth, Ouwehan, Willem, Papadi, Sofia, Park, Soo-Mi, Parry, David, Paterson, Joan, Peacock, Andrew, Peden, John, Peerlinck, Kathelijne, Penkett, Christopher, Pepke-Zaba, Joanna, Petersen, Romina, Pyle, Angela, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthew, Paula, Rees, Christine, Rendon, Augusto, Renton, Tara, Rice, Andrew, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Roughley, Catherine, Roy, Noemi, Sadeghi-Alavijeh, Omid, Saleem, Moin, Samani, Nilesh, Sanchis-Juan, Alba, Sargur, Ravishankar, Satchell, Simon, Savic, Sinisa, Scelsi, Laura, Schulman, Sol, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, Carrock, Seyres, Denis, Shapiro, Susie, Sharmardina, Olga, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael, Sivapalaratnam, Suthesh, Skytte, Anne-Bine, Smith, Katherine, Smith, Kenneth G. C., Snape, Katie, Soubrier, Florent, Staines, Simon, Staples, Emily, Stark, Hannah, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Swietlik, Emilia, Tait, R. Campbell, Talks, Kate, Tan, Rhea, Thaventhiran, James, Themistocleous, Andreas, Thomas, Moira, Thomson, Kate, Thrasher, Adrian, Thys, Chantal, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Vale, Tom, Van Geet, Chris, Van Zuydam, Natalie, Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Waisfisz, Quintin, Walker, Suellen, Ware, James, Watkins, Hugh, Watt, Christopher, Webster, Andrew, Wei, Wei, Welch, Steven, Wessels, Julie, Westbury, Sarah, Westwood, John-Paul, Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Wong, Edwin, Wood, Nicholas, Wood, Yvette, Woods, Geoff, Woodward, Emma, Wort, Stephen, Worth, Austen, Yates, Katherine, Yong, Patrick, Young, Tim, Yu, Ping, Yu-Wai-Man, Patrick, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Chambers, Jenny, Syngelaki, Argyro, Donnelly, Jennifer, Cooley, Sharon, Geary, Michael, Nicolaides, Kypros, Thorsell, Malin, Hague, William M., Estiu, Maria Cecilia, Marschall, Hanns-Ulrich, Gale, Daniel P., Williamson, Catherine, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Pediatrics, Foundation for the National Institutes of Health (FNIH), The Academy of Medical Sciences, British Heart Foundation, Imperial College Healthcare NHS Trust- BRC Funding, Paediatric Infectious Diseases / Rheumatology / Immunology, and ARD - Amsterdam Reproduction and Development

Subjects
VARIANT, LOCI, INTEGRATIVE ANALYSIS, General Physics and Astronomy, Cholestasis, Intrahepatic, TRIGLYCERIDE LEVELS, DISEASE, General Biochemistry, Genetics and Molecular Biology, Bile Acids and Salts, Pregnancy, Humans, MUTATION, Science & Technology, Multidisciplinary, Genomics England Research Consortium Collaborators, Infant, Newborn, NIHR BioResource, General Chemistry, GLUCOCORTICOID-RECEPTOR, Multidisciplinary Sciences, ALKALINE SPHINGOMYELINASE, Pregnancy Complications, INSIGHTS, Science & Technology - Other Topics, Premature Birth, Female, FASTING GLUCOSE, Genome-Wide Association Study
Abstract

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5-2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility. ispartof: NATURE COMMUNICATIONS vol:13 issue:1 ispartof: location:England status: published

Published
2022
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34. First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

Author

Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M, Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L, Chung, Wendy K, Berger, Rolf MF, Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara MA, Kerstjens-Frederikse, Wilhelmina, Kiely, David G, Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J, Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, AA Roger, Wharton, John, Wort, Stephen J, Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M, Martin, Jennifer M, Li, Wei, Swift, Andrew J, Upton, Paul D, Morrell, Nicholas W, Gräf, Stefan, Valverde, Diana, NIHR BioResource For Translational Research–Rare Diseases, National Cohort Study Of Idiopathic And Heritable PAH, PAH Biobank Enrolling Centers’ Investigators, Prapa, Matina [0000-0002-2717-5463], Lago-Docampo, Mauro [0000-0002-8799-6079], Montani, David [0000-0002-9358-6922], Humbert, Marc [0000-0003-0703-2892], Welch, Carrie L [0000-0003-3521-4458], Chung, Wendy K [0000-0003-3438-5685], Berger, Rolf MF [0000-0002-4385-5784], Bogaard, Harm Jan [0000-0001-5371-0346], Danhaive, Olivier [0000-0002-8208-3086], Escribano-Subías, Pilar [0000-0002-6640-4839], Gall, Henning [0000-0001-7016-7373], Jansen, Samara MA [0000-0003-3493-3573], Kerstjens-Frederikse, Wilhelmina [0000-0003-2528-2203], Lapunzina, Pablo [0000-0002-6324-4825], McDermott, John [0000-0002-5220-8837], Moledina, Shahin [0000-0003-0262-2340], Pepke-Zaba, Joanna [0000-0003-3764-3563], Polwarth, Gary J [0000-0003-0344-3088], Tenorio-Castaño, Jair [0000-0002-5308-2316], Thompson, AA Roger [0000-0002-0717-4551], Wharton, John [0000-0001-8110-2575], Megy, Karyn [0000-0002-2826-3879], Li, Wei [0000-0002-1924-3120], Morrell, Nicholas W [0000-0001-5700-9792], Gräf, Stefan [0000-0002-1315-8873], Valverde, Diana [0000-0002-7024-1657], and Apollo - University of Cambridge Repository

Subjects
interstitial lung disease, Lung Diseases, gain-of-function, Phenotype, Genotype, pulmonary arterial hypertension, Gain of Function Mutation, Mutation, Humans, TBX4, T-Box Domain Proteins, Bone Morphogenetic Protein Receptors, Type II, lung developmental disease
Abstract

Rationale: Despite the increased recognition of TBX4 (T-BOX transcription factor 4)-associated pulmonary arterial hypertension (PAH), genotype-phenotype associations are lacking and may provide important insights. Objectives: To compile and functionally characterize all TBX4 variants reported to date and undertake a comprehensive genotype-phenotype analysis. Methods: We assembled a multicenter cohort of 137 patients harboring monoallelic TBX4 variants and assessed the pathogenicity of missense variation (n = 42) using a novel luciferase reporter assay containing T-BOX binding motifs. We sought genotype-phenotype correlations and undertook a comparative analysis with patients with PAH with BMPR2 (Bone Morphogenetic Protein Receptor type 2) causal variants (n = 162) or no identified variants in PAH-associated genes (n = 741) genotyped via the National Institute for Health Research BioResource-Rare Diseases. Measurements and Main Results: Functional assessment of TBX4 missense variants led to the novel finding of gain-of-function effects associated with older age at diagnosis of lung disease compared with loss-of-function effects (P = 0.038). Variants located in the T-BOX and nuclear localization domains were associated with earlier presentation (P = 0.005) and increased incidence of interstitial lung disease (P = 0.003). Event-free survival (death or transplantation) was shorter in the T-BOX group (P = 0.022), although age had a significant effect in the hazard model (P = 0.0461). Carriers of TBX4 variants were diagnosed at a younger age (P < 0.001) and had worse baseline lung function (FEV1, FVC) (P = 0.009) than the BMPR2 and no identified causal variant groups. Conclusions: We demonstrated that TBX4 syndrome is not strictly the result of haploinsufficiency but can also be caused by gain of function. The pleiotropic effects of TBX4 in lung disease may be in part explained by the differential effect of pathogenic mutations located in critical protein domains.

Published
2022
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35. Phosphodiesterase 5 inhibitor treatment and survival in interstitial lung disease pulmonary hypertension: A Bayesian retrospective observational cohort study

Author

Dawes, Timothy J. W., primary, McCabe, Colm, additional, Dimopoulos, Konstantinos, additional, Stewart, Iain, additional, Bax, Simon, additional, Harries, Carl, additional, Samaranayake, Chinthaka B., additional, Kempny, Aleksander, additional, Molyneaux, Philip L., additional, Seitler, Samuel, additional, Semple, Thomas, additional, Li, Wei, additional, George, Peter M., additional, Kouranos, Vasileios, additional, Chua, Felix, additional, Renzoni, Elisabetta A., additional, Kokosi, Maria, additional, Jenkins, Gisli, additional, Wells, Athol U., additional, Wort, Stephen J., additional, and Price, Laura C., additional

Published
2022
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41. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Author

Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D., Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G., Lawrie, Allan, Machado, Rajiv, MacKenzie Ross, Robert, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R., Wort, Stephen J., Wharton, John, Gräf, Stefan, Morrell, Nicholas W., Aitman, Timothy, Bennett, David, Caulfield, Mark, Chinnery, Patrick, Gale, Daniel, Koziell, Ania, Kuijpers, Taco W, Laffan, Michael A, Maher, Eamonn, Markus, Hugh S, Ouwehand, Willem H, Perry, David, Raymond, F Lucy, Roberts, Irene, Smith, Kenneth, Thrasher, Adrian, Watkins, Hugh, Williamson, Catherine, Woods, Geoffrey, Ashford, Sofie, Bradley, John R, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem H, Penkett, Christopher J, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Ashford, Sofie, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Stark, Hannah, Allsup, David, Austin, Steve, Bakchoul, Tamam, Bariana, Tadbir K, Bolton-Maggs, Paula, Chalmers, Elizabeth, Collins, Peter, Erber, Wendy N, Everington, Tamara, Favier, Remi, Freson, Kathleen, Furie, Bruce, Gattens, Michael, Gomez, Keith, Greene, Daniel, Greinacher, Andreas, Hart, Daniel, Heemskerk, Johan WM, Henskens, Yvonne, Kazmi, Rashid, Keeling, David, Kelly, Anne M, Laffan, Michael A, Lambert, Michele P, Lentaigne, Claire, Liesner, Ri, Mangles, Sarah, Mathias, Mary, Millar, Carolyn M, Mumford, Andrew, Nurden, Paquita, Ouwehand, Willem H, Papadia, Sofia, Payne, Jeanette, Pasi, John, Perry, David J, Peerlinck, Kathelijne, Richards, Michael, Rondina, Matthew, Roughley, Catherine, Schulman, Sol, Schulze, Harald, Scully, Marie, Sivapalaratnam, Suthesh, Tait, R Campbell, Talks, Kate, Thachil, Jecko, Turro, Ernest, Toh, Cheng-Hock, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q, Westbury, Sarah, Furnell, Abigail, Mapeta, Rutendo, Simeoni, Ilenia, Staines, Simon, Stephens, Jonathan, Stirrups, Kathleen, Whitehorn, Deborah, Watt, Christopher, Attwood, Antony, Daugherty, Louise, Deevi, Sri VV, Halmagyi, Csaba, Hu, Fengyuan, James, Roger, Matser, Vera, Meacham, Stuart, Megy, Karyn, Penkett, Christopher J, Stirrups, Kathleen, Titterton, Catherine, Tuna, Salih, Yu, Ping, von Ziegenweldt, Julie, Astle, William, Carss, Keren, Greene, Daniel, Lango-Allen, Hana, Turro, Ernest, Astle, William, Greene, Daniel, Richardson, Sylvia, Turro, Ernest, Calleja, Paul, Rankin, Stuart, Turek, Wojciech, Bryson, Christine, Anderson, Julie, Fletcher, Debra, McJannet, Coleen, Stock, Sophie, Young, Tim, Wassmer, Evangeline, Sohal, Aman, Santra, Saikat, Vogt, Julie, Chitre, Manali, Krishnakumar, Deepa, Ambegaonkar, Gautum, Maw, Anna, Armstrong, Ruth, Park, Soo-Mi, Mehta, Sarju, Paterson, Joan, Carmichael, Jenny, Allen, Louise, Hensiek, Anke, Firth, Helen, Stein, Penelope, Deegan, Patrick, Doffinger, Rainer, Parker, Alasdair, Bitner-Glindzicz, Maria, Scott, Richard, Hurst, Jane, Rosser, Elisabeth, Lees, Melissa, Clement, Emma, Henderson, Robert, Thompson, Dorothy, Gardham, Alice, Gissen, Paul, Josifova, Dragana, Thomas, Ellen, Patch, Chris, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Canham, Natalie, Wakeling, Emma, Holder, Susan, Ghali, Neeti, Brady, Angie, Clowes, Virginia, MacLaren, Robert, Webster, Andrew, Moore, Anthony, Arno, Gavin, Michaelides, Michel, Rankin, Julia, Kurian, Manju, Murphy, Elaine, Carss, Keren, Sanchis-Juan, Alba, Erwood, Marie, Dewhurst, Eleanor, Grozeva, Detelina, Raymond, F Lucy, Reid, Evan, Woods, Geoff, Tischkowitz, Marc, Sandford, Richard, Ali, Sonia, Creaser-Myers, Amanda, Cookson, Victoria, DaCosta, Rosa, Dormand, Natalie, Ghataorhe, Pavandeep K, Greenhalgh, Alan, Huis in’t Veld, Anna, Kennedy, Fiona, Mackenzie Ross, Rob, Masati, Larahmie, Meehan, Sharon, Othman, Shokri, Pollock, Val, Polwarth, Gary, Rhodes, Christopher J, Rue-Albrecht, Kevin, Schotte, Gwen, Shipley, Debbie, Tan, Yvonne, Wanjiku, Ivy, Wort, John, Smith, Kenneth, Kuijpers, Taco, Thrasher, Adrian, Thaventhiran, James, Brown, Matthew, Lango Allen, Hana, Simeoni, Ilenia, Staples, Emily, Samarghitean, Crina, Alachkar, Hana, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Chandra, Anita, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Hayman, Grant, Herwadkar, Archana, Huissoon, Aarnoud, Jolles, Stephen, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Murng, Sai, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Richter, Alex, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewell, Carrock, Stauss, Hans, Thomas, Moira, Welch, Steve, Willcocks, Lisa, Yeatman, Nigel, and Yong, Patrick

Published
2017
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42. Abstract 14753: Loss of Function ABCC8 Mutations Are Associated With Pulmonary Arterial Hypertension

Author

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, 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, and Chung, Wendy K

Published
2017

43. The CRASH report: emergency management dilemmas facing acute physicians in patients with pulmonary arterial hypertension

Author

Price, Laura C, Dimopoulos, Konstantinos, Marino, Philip, Alonso-Gonzalez, Rafael, McCabe, Colm, Kemnpy, Aleksander, Swan, Lorna, Boutsikou, Maria, Al Zahrani, Ahmed, Coghlan, Gerry J, Schreiber, Benjamin E, Howard, Luke S, Davies, Rachel, Toshner, Mark, Pepke-Zaba, Joanna, Church, Alistair C, Peacock, Andrew, Corris, Paul A, Lordan, James L, Gaine, Sean, Condliffe, Robin, Kiely, David G, and Wort, Stephen John

Published
2017
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48. A framework of deep learning networks provides expert-level accuracy for the detection and prognostication of pulmonary arterial hypertension

Author

Diller, Gerhard-Paul, primary, Benesch Vidal, Maria Luisa, additional, Kempny, Aleksander, additional, Kubota, Kana, additional, Li, Wei, additional, Dimopoulos, Konstantinos, additional, Arvanitaki, Alexandra, additional, Lammers, Astrid E, additional, Wort, Stephen J, additional, Baumgartner, Helmut, additional, Orwat, Stefan, additional, and Gatzoulis, Michael A, additional

Published
2022
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49. Clinical significance of pulmonary hypertension in interstitial lung disease: A consensus statement from the Pulmonary Vascular Research Institute's innovative drug development initiative—Group 3 pulmonary hypertension

Author

Nikkho, Sylvia M., primary, Richter, Manuel J., additional, Shen, Eric, additional, Abman, Steven H., additional, Antoniou, Katerina, additional, Chung, Jonathan, additional, Fernandes, Peter, additional, Hassoun, Paul, additional, Lazarus, Howard M., additional, Olschewski, Horst, additional, Piccari, Lucilla, additional, Psotka, Mitchell, additional, Saggar, Rajan, additional, Shlobin, Oksana A., additional, Stockbridge, Norman, additional, Vitulo, Patrizio, additional, Vizza, Carmine Dario, additional, Wort, Stephen J., additional, and Nathan, Steven D., additional

Published
2022
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50. 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension Developed by the task force for the diagnosis and treatment of pulmonary hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS). Endorsed by the International Society for Heart and Lung Transplantation (ISHLT) and the European Reference Network on rare respiratory diseases (ERN-LUNG)

Author

Humbert, Marc, Kovacs, Gabor, Hoeper, Marius M., Badagliacca, Roberto, Berger, Rolf M. F., Brida, Margarita, Carlsen, Jorn, Coats, Andrew J. S., Escribano-Subias, Pilar, Ferrari, Pisana, Ferreira, Diogenes S., Ghofrani, Hossein Ardeschir, Giannakoulas, George, Kiely, David G., Mayer, Eckhard, Meszaros, Gergely, Nagavci, Blin, Olsson, Karen M., Pepke-Zaba, Joanna, Quint, Jennifer K., Radegran, Goran, Simonneau, Gerald, Sitbon, Olivier, Tonia, Thomy, Toshner, Mark, Vachiery, Jean-Luc, Noordegraaf, Anton Vonk, Delcroix, Marion, Rosenkranz, Stephan, Schwerzmann, Markus, Bush, Andy, Abdelhamid, Magdy, Aboyans, Victor, Arbustini, Eloisa, Asteggiano, Riccardo, Barbera, Joan-Albert, Beghetti, Maurice, Cikes, Maja, Condliffe, Robin, de Man, Frances, Falk, Volkmar, Fauchier, Laurent, Gaine, Sean, Galie, Nazzareno, Gin-Sing, Wendy, Granton, John, Grunig, Ekkehard, Hassoun, Paul M., Hellemons, Merel, Jaarsma, Tiny, Kjellstrom, Barbro, Klok, Frederikus A., Konradi, Aleksandra, Koskinas, Konstantinos C., Kotecha, Dipak, Lang, Irene, Lewis, Basil S., Linhart, Ales, Lip, Gregory Y. H., Lochen, Maja-Lisa, Mathioudakis, Alexander G., Mindham, Richard, Moledina, Shahin, Naeije, Robert, Nielsen, Jens Cosedis, Olschewski, Horst, Opitz, Isabelle, Petersen, Steffen E., Prescott, Eva, Rakisheva, Amina, Reis, Abilio, Ristic, Arsen D., Roche, Nicolas, Rodrigues, Rita, Selton-Suty, Christine, Souza, Rogerio, Swift, Andrew J., Touyz, Rhian M., Ulrich, Silvia, Wilkins, Martin R., Wort, Stephen John, Humbert, Marc, Kovacs, Gabor, Hoeper, Marius M., Badagliacca, Roberto, Berger, Rolf M. F., Brida, Margarita, Carlsen, Jorn, Coats, Andrew J. S., Escribano-Subias, Pilar, Ferrari, Pisana, Ferreira, Diogenes S., Ghofrani, Hossein Ardeschir, Giannakoulas, George, Kiely, David G., Mayer, Eckhard, Meszaros, Gergely, Nagavci, Blin, Olsson, Karen M., Pepke-Zaba, Joanna, Quint, Jennifer K., Radegran, Goran, Simonneau, Gerald, Sitbon, Olivier, Tonia, Thomy, Toshner, Mark, Vachiery, Jean-Luc, Noordegraaf, Anton Vonk, Delcroix, Marion, Rosenkranz, Stephan, Schwerzmann, Markus, Bush, Andy, Abdelhamid, Magdy, Aboyans, Victor, Arbustini, Eloisa, Asteggiano, Riccardo, Barbera, Joan-Albert, Beghetti, Maurice, Cikes, Maja, Condliffe, Robin, de Man, Frances, Falk, Volkmar, Fauchier, Laurent, Gaine, Sean, Galie, Nazzareno, Gin-Sing, Wendy, Granton, John, Grunig, Ekkehard, Hassoun, Paul M., Hellemons, Merel, Jaarsma, Tiny, Kjellstrom, Barbro, Klok, Frederikus A., Konradi, Aleksandra, Koskinas, Konstantinos C., Kotecha, Dipak, Lang, Irene, Lewis, Basil S., Linhart, Ales, Lip, Gregory Y. H., Lochen, Maja-Lisa, Mathioudakis, Alexander G., Mindham, Richard, Moledina, Shahin, Naeije, Robert, Nielsen, Jens Cosedis, Olschewski, Horst, Opitz, Isabelle, Petersen, Steffen E., Prescott, Eva, Rakisheva, Amina, Reis, Abilio, Ristic, Arsen D., Roche, Nicolas, Rodrigues, Rita, Selton-Suty, Christine, Souza, Rogerio, Swift, Andrew J., Touyz, Rhian M., Ulrich, Silvia, Wilkins, Martin R., and Wort, Stephen John

Published
2022

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