Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Autor: Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Juaregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-18 (2021)

Abstract Background Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be a

Externí odkaz: https://doaj.org/article/7d26217cb5954a278edcedd89f0346c6

Correction to: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Autor: Na Zhu, Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob J. Hagen, Xueya Zhou, Yicheng Guo, Johannes Karten, Divya Pandya, Tobias Tilly, Katie A. Lutz, Jennifer M. Martin, Carmen M. Treacy, Erika B. Rosenzweig, Usha Krishnan, Anna W. Coleman, Claudia Gonzaga-Jauregui, Allan Lawrie, Richard C. Trembath, Martin R. Wilkins, Regeneron Genetics Center, PAH Biobank Enrolling Centers’ Investigators, NIHR BioResource for Translational Research - Rare Diseases, National Cohort Study of Idiopathic and Heritable PAH, Nicholas W. Morrell, Yufeng Shen, Stefan Gräf, William C. Nichols, Wendy K. Chung

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-1 (2021)

Externí odkaz: https://doaj.org/article/2f9c2543b76a476ea740d73fa0a70388

S91 Patterns of cytokines and growth factors in pulmonary arterial hypertension patients with BMPR2 mutations and PAH patients without driving mutations and their influence on survival

Autor: SJ Wort, Joanna Pepke-Zaba, Emilia M. Swietlik, KA Burling, Divya Pandya, Peter Barker, Stefan J. Marciniak, Stefan Gräf, Elaine Soon, Carmen M. Treacy, Nicholas W. Morrell, M Schwiening

Publikováno v: Pulmonary arterial hypertension: drugs, sox and cytokines.

Background Pulmonary arterial hypertension (PAH) covers a range of life-limiting conditions characterized by increased mean pulmonary arterial pressures leading to right heart failure and eventually death, if left untreated. In approximately 25% of c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d451d0a223e8abd68bd3ed39fc47bb69
https://doi.org/10.1136/thorax-2020-btsabstracts.96

Author response: Effective control of SARS-CoV-2 transmission between healthcare workers during a period of diminished community prevalence of COVID-19

Autor: Simone Hargreaves, Francescsa Nice, Naidine Escoffery, Paul J. Lehner, Lucy Rivett, Caroline Saunders, Julie Harris, Neil Bartholomew, Natalia Savoinykh Yarkoni, Anne Meadows, Anne-Laure Vallier, Mary Kasanicki, Joe Marsden, Jo Wright, Charlotte J. Houldcroft, Chris Workman, Mark Ferris, Carmen M. Treacy, Kelvin Hunter, Anita Furlong, Harmeet Gill, Michael P. Weekes, Surendra Parmar, Nika Romashova, Kenneth G. C. Smith, Greg Hannon, Ashlea Bucke, Chris McNicholas, Debbie Read, Myra Hosmillo, Sushmita Sridhar, Linda Pointon, Jane Gray, John Bradley, Josh Hodgson, Emma Le Gresley, Joana Pereira-Dias, Lori Turner, Nicola Ramenatte, Stefan Gräf, Ben Warne, Claire Cormie, Jane Rowlands, Jane Kennet, Penelope-Jane Eames, Christopher Huang, Barbara J. Graves, Sally Forrest, Helen Butcher, Daniela Caputo, Joanna Calder, Anna Yakovleva, Jo Price, Aileen Narcorda, M. Estée Török, Sarah Hewitt, Martin D. Curran, Ian Goodfellow, Valentina Ruffolo, Cordova Jiménez, Michelle Wantoch, Lisa Thake, Zhen Tong, Isobel Jarvis, Laura Canna, Paul A. Lyons, Isabel Cruz, Benjamin J. Dunmore, Anne Roberts, William David Córdova Jiménez, Lucy Worboys, Helen Dolling, Rebecca Rastall, Ommar Omarjee, Sarah L Caddy, Barrie Bailey, William L Hamilton, Ekaterina Legchenko, Debra Clapham-Riley, Rachel Sutcliffe, Ciara O’Donnell, Fahad A Khokhar, Laura G Caller, Kathleen E Stirrups, Fathima Nisha Begum Samad, Hongyi Zhang, Jamie Young, Sofia Papadia, Criona O Brien, Tobias Tilly, Jennifer M. Martin, Nick K Jones, Kirsty Lagadu, Carla Ribeiro, Ailsa Bowring, Nicholas J Matheson, Tim Gould, D. Johnson, Ashley Shaw, Simon McCallum, Tim Raine, Daniel Lewis, Ariana Betancourt, Stewart Fuller, Afzal N. Chaudhry, Lenette Mactavous, Heather F Jones, William David, Rachel Doughton, Theresa Feltwell, Luke W. Meredith, Nathalie Kingston, Hannah Stark, Georgie Bowyer, Gregory J. Hannon, Karen Brookes, Dominic Sparkes, Iain Kean, Ravi Gupta, Cherry Publico, Katie Dempsey, Matthew Routledge, Nicholas K Jones, Aloka De Sa, Giles Wright, Laura Bergamaschi, Claire Mather, Rutendo Nyagumbo, Maddie Epping, Jack Levy, Marianne Perera, Christian Sparke, Fatima Nb Samad, Nicola Reynolds, Michael Gill, Hugo Tordesillas, Oisin Huhn, Anne Elmer, Geraldine Martell, Mateusz Strezlecki, Grant Hall, Andrew Hinch, Gordon Dougan, Jennifer Webster, Helen Murphy, Stephen Baker, Aminu S Jahun, Mark Toshner, Angela Wright, Natalie Quinnell, Joy Shih, Caroline Trotter, Nicholas K. Brown, Federica Mescia, John S. Bradley, Jennifer Wood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f0ce2cf112b5250a430a67863c74b18e
https://doi.org/10.7554/elife.59391.sa2

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

Autor: Christopher J. Rhodes, Allan Lawrie, Robert V. MacKenzie Ross, Mark Toshner, Mélanie Eyries, Werner Seeger, Richard M. Salmon, Stefano Ghio, Laura Scelsi, Stephen J. Wort, Gabor Kovacs, Florent Soubrier, J. Simon R. Gibbs, Richard C. Trembath, Jennifer M. Martin, Nicholas W. Morrell, Matthias Haimel, Gerry Coghlan, Marc Humbert, Jay Suntharalingam, Charaka Hadinnapola, Cesare Danesino, Willem H. Ouwehand, Louise C. Daugherty, Carmen M. Treacy, David G. Kiely, Andrea Olschewski, Joanna Pepke-Zaba, Deborah Whitehorn, Anton Vonk Noordegraaf, Andrew J. Peacock, Robin Condliffe, Horst Olschewski, Paul A. Corris, Joshua Hodgson, Hossein Ardeschir Ghofrani, Arjan C. Houweling, Colin Church, Jingxu Guo, Stefan Gräf, Barbara Girerd, Katherine Yates, Harm Jan Bogaard, Ivana Nikolic, Luke S. Howard, Henning Gall, Laura Southgate, Olga Shamardina, Emilia M. Swietlik, Marta Bleda, Rajiv D. Machado, Inga Prokopenko, John Wharton, James Liley, Simon Holden, Paul B. Yu, Martin R. Wilkins, Shahin Moledina, David Montani, Paul D. Upton, Wei Li

Publikováno v: American Journal of Respiratory and Critical Care Medicine
American Journal of Respiratory and Critical Care Medicine, American Thoracic Society, 2020, 201 (5), pp.575-585. ⟨10.1164/rccm.201906-1141OC⟩
Hodgson, J, Swietlik, E M, Salmon, R M, Hadinnapola, C, Nikolic, I, Wharton, J, Guo, J, Liley, J, Haimel, M, Bleda, M, Southgate, L, Machado, R D, Martin, J M, Treacy, C M, Yates, K, Daugherty, L C, Shamardina, O, Whitehorn, D, Holden, S, Bogaard, H J, Church, C, Coghlan, G, Condliffe, R, Corris, P A, Danesino, C, Eyries, M, Gall, H, Ghio, S, Ghofrani, H-A, Gibbs, J S R, Girerd, B, Houweling, A C, Howard, L, Humbert, M, Kiely, D G, Kovacs, G, Lawrie, A, MacKenzie Ross, R V, Moledina, S, Montani, D, Olschewski, A, Olschewski, H, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Prokopenko, I, Rhodes, C J, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, M R, Trembath, R C, Vonk Noordegraaf, A, Wort, S J, Wilkins, M R, Yu, P B, Li, W, Gräf, S, Upton, P D & Morrell, N W 2020, ' Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension ', American Journal of Respiratory and Critical Care Medicine, vol. 201, no. 5, pp. 575-585 . https://doi.org/10.1164/rccm.201906-1141OC
American Journal of Respiratory and Critical Care Medicine, 201(5), 575-585. American Thoracic Society

International audience; Rationale: Recently, rare heterozygous mutations in GDF2 were identified in patients with pulmonary arterial hypertension (PAH). GDF2 encodes the circulating BMP (bone morphogenetic protein) type 9, which is a ligand for the B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7057d541ab94be4cf6a3450d45c90e47
https://hal.sorbonne-universite.fr/hal-02967807