Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Autor: Kariotis, S, Jammeh, E, Swietlik, EM, Pickworth, JA, Rhodes, CJ, Otero, P, Wharton, J, Iremonger, J, Dunning, MJ, Pandya, D, Mascarenhas, TS, Errington, N, Thompson, AAR, Romanoski, CE, Rischard, F, Garcia, JGN, Yuan, JX-J, An, T-HS, Desai, AA, Coghlan, G, Lordan, J, Corris, PA, Howard, LS, Condliffe, R, Kiely, DG, Church, C, Pepke-Zaba, J, Toshner, M, Wort, S, Gräf, S, Morrell, NW, Wilkins, MR, Lawrie, A, Wang, D, Bleda, M, Hadinnapola, C, Haimel, M, Auckland, K, Tilly, T, Martin, JM, Yates, K, Treacy, CM, Day, M, Greenhalgh, A, Shipley, D, Peacock, AJ, Irvine, V, Kennedy, F, Moledina, S, MacDonald, L, Tamvaki, E, Barnes, A, Cookson, V, Chentouf, L, Ali, S, Othman, S, Ranganathan, L, Gibbs, JSR, DaCosta, R, Pinguel, J, Dormand, N, Parker, A, Stokes, D, Ghedia, D, Tan, Y, Ngcozana, T, Wanjiku, I, Polwarth, G, Mackenzie Ross, RV, Suntharalingam, J, Grover, M, Kirby, A, Grove, A, White, K, Seatter, A, Creaser-Myers, A, Walker, S, Roney, S, Elliot, CA, Charalampopoulos, A, Sabroe, I, Hameed, A, Armstrong, I, Hamilton, N, Rothman, AMK, Swift, AJ, Wild, JM, Soubrier, F, Eyries, M, Humbert, M, Montani, D, Girerd, B, Scelsi, L, Ghio, S, Gall, H, Ghofrani, A, Bogaard, HJ, Noordegraaf, AV, Houweling, AC, Veld, AHI, Schotte, G

Idiopathic pulmonary arterial hypertension (IPAH) is a rare but fatal disease diagnosed by right heart catheterisation and the exclusion of other forms of pulmonary arterial hypertension, producing a heterogeneous population with varied treatment res

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https://eprints.gla.ac.uk/260156/1/260156.pdf

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

Autor: Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RV, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, A, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Consortium, UK NIHR Bioresource Rare Diseases, Consortium, UK PAH Cohort Study, Consortium, US PAH Biobank, McCarthy, M

Publikováno v: Lancet Respiratory medicine
Lancet Respiratory medicine, Elsevier, 2019, 7 (3), pp.227-238. ⟨10.1016/S2213-2600(18)30409-0⟩
Lancet respiratory medicine, 7(3), 227-238. Elsevier Limited
The Lancet. Respiratory Medicine
Rhodes, C J, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, M W, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, K B, Karnes, J H, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, E M, Ahmad, F, Amouyel, P, Archer, S L, Argula, R, Austin, E D, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, H J, Burger, C D, Chakinala, M, Church, C, Coghlan, J G, Condliffe, R, Corris, P A, Danesino, C, Debette, S, Elliott, C G, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, R P, Frost, A, Garcia, J G N, Ghio, S, Ghofrani, H A, Gibbs, J S R, Harley, J, He, H, Hill, N S, Hirsch, R, Houweling, A C, Howard, L S, Ivy, D, Kiely, D G, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, R D, MacKenzie Ross, R V, Marsolo, K, Martin, L J, Moledina, S, Montani, D, Nathan, S D, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, R J, Ouwehand, W H, Peacock, A J, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, D M, Rosenzweig, E B, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, C M, Simms, R W, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, A Y, Thenappan, T, Torres, F, Toshner, M R, Treacy, C M, Vonk Noordegraaf, A, Waisfisz, Q, Walsworth, A K, Walter, R E, Wharton, J, White, R J, Wilt, J, Wort, S J, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, W C, Trembath, R C, Desai, A A, Morrell, N W, Wilkins, M R, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium & US PAH Biobank Consortium 2019, ' Genetic determinants of risk in pulmonary arterial hypertension : international genome-wide association studies and meta-analysis ', Lancet respiratory medicine, vol. 7, no. 3, pp. 227-238 . https://doi.org/10.1016/S2213-2600(18)30409-0, https://doi.org/10.1016/S2213-2600(18)30409-0

Background Raregenetic variantscause pulmonary arterial hypertension, but the contribution of commongenetic variationto disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertensio

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https://hal.sorbonne-universite.fr/hal-02154109/file/1-s2.0-S2213260018304090-main.pdf

Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Autor: Farmery, JHR, Smith, ML, Lynch, AG, Huissoon, A, Furnell, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, AJ, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, In't Veld, AH, Maw, A, Kelly, AM, Moore, A, Noordegraaf, AV, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, AC, Girerd, B, Furie, B, Treacy, CM, Millar, CM, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Van Geet, C, Babbs, C, Bryson, C, Penkett, CJ, Rhodes, CJ, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, DG, Gosal, D, Perry, DJ, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, EKS, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, FL, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, HT, Alachkar, H, Allen, HL, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, HJ, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, HS, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, JSR, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, JM, Martin, J, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, JWM, Gebhart, J, Davis, J, Pasi, J, Bradley, JR, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, KGC, Carss, K, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, MA, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, MP, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Van Zuydam, N, Kingston, N, Ghali, N, Cooper, N, Morrell, NW, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, OS, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Yu-Wai-Man, P, Corris, PA, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, PK, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, RC, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, MackenzieRoss, RV, Henderson, R, MacLaren, R, James, R, Ghurye, R, DaCosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Deevi, SVV, Graf, S, Ghio, S, Wort, SJ, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, TW, Bariana, TK, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, TQ, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, WN, Ouwehand, WH, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y

Publikováno v: Scientific Reports, Vol 8, Iss 1, Pp 1-4 (2018)

Correction to: Scientific Reports https://doi.org/10.1038/s41598-017-14403-y, published online 22 January 2018 The original version of this Article contained a typographical error in the spelling of the consortium member Patrick Yu-Wai-Man which was

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https://www.repository.cam.ac.uk/handle/1810/291466

Reversal of pulmonary veno-occlusive disease phenotypes by inhibition of the integrated stress response.

Autor: Prabhakar A; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Kumar R; Lung Biology Center, Pulmonary and Critical Care Medicine, Zuckerberg San Francisco General Hospital, San Francisco, CA, USA., Wadhwa M; Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA, USA., Ghatpande P; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Zhang J; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Zhao Z; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Lizama CO; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Kharbikar BN; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA., Gräf S; Department of Medicine, University of Cambridge, Cambridge, UK., Treacy CM; Department of Medicine, University of Cambridge, Cambridge, UK., Morrell NW; Department of Medicine, University of Cambridge, Cambridge, UK., Graham BB; Lung Biology Center, Pulmonary and Critical Care Medicine, Zuckerberg San Francisco General Hospital, San Francisco, CA, USA., Lagna G; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA., Hata A; Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA. akiko.hata@ucsf.edu.; Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA, USA. akiko.hata@ucsf.edu.

Publikováno v: Nature cardiovascular research [Nat Cardiovasc Res] 2024 Jul; Vol. 3 (7), pp. 799-818. Date of Electronic Publication: 2024 Jul 09.

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

Autor: Prapa M; Department of Medicine and.; St. George's University Hospitals National Health Service (NHS) Foundation Trust, London, United Kingdom., Lago-Docampo M; CINBIO, Universidade de Vigo, Vigo, Spain.; Rare Diseases and Pediatric Medicine, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain., Swietlik EM; Department of Medicine and.; Addenbrooke's Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Royal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Montani D; 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, France., Eyries M; Département de génétique, hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, and UMR_S 1166-ICAN, INSERM, UPMC Sorbonne Universités, Paris, France., Humbert M; 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, France., Welch CL; Department of Pediatrics and., Chung WK; Department of Pediatrics and.; Department of Medicine, Columbia University Irving Medical Center, New York, New York., Berger RMF; Centre for Congenital Heart Diseases, Pediatric Cardiology, Beatrix Children's Hospital, and., Bogaard HJ; Department of Pulmonary Medicine, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands., Danhaive O; Division of Neonatology, St.-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium.; Department of Pediatrics, University of California San Francisco, San Francisco, California., Escribano-Subías P; Unidad Multidisciplinar de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain.; CIBERCV, Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares, ISCIII, Madrid, Spain., Gall H; Centre for Congenital Heart Diseases, Pediatric Cardiology, Beatrix Children's Hospital, and., Girerd B; 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, France., Hernandez-Gonzalez I; Departamento de Cardiología, Hospital Universitario Río Hortega, Valladolid, Spain., Holden S; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom., Jansen SMA; Department of Pulmonary Medicine, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands., Kerstjens-Frederikse W; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Kiely DG; Department of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom.; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, United Kingdom., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Brussels, Belgium., McDermott J; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom., Moledina S; Great Ormond Street Hospital, London, United Kingdom., Pepke-Zaba J; Royal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Polwarth GJ; Royal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Schotte G; Department of Pulmonary Medicine, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands., Tenorio-Castaño J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Brussels, Belgium., Thompson AAR; Department of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom.; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, United Kingdom., Wharton J; National Heart and Lung Institute, Imperial College London, London, United Kingdom., Wort SJ; National Heart and Lung Institute, Imperial College London, London, United Kingdom., Megy K; Department of Medicine and.; Addenbrooke's Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Mapeta R; Department of Medicine and.; Addenbrooke's Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom., Treacy CM; Department of Medicine and., Martin JM; Department of Medicine and., Li W; Department of Medicine and., Swift AJ; Department of Infection, Immunity, and Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom., Upton PD; Department of Medicine and., Morrell NW; Department of Medicine and.; Addenbrooke's Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Royal Papworth Hospital NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Institute of Health Research (NIHR) BioResource for Translational Research, Cambridge Biomedical Campus, Cambridge, United Kingdom., Gräf S; Department of Medicine and.; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; National Institute of Health Research (NIHR) BioResource for Translational Research, Cambridge Biomedical Campus, Cambridge, United Kingdom., Valverde D; CINBIO, Universidade de Vigo, Vigo, Spain.; Rare Diseases and Pediatric Medicine, Galicia Sur Health Research Institute (IIS Galicia Sur), SERGAS-UVIGO, Vigo, Spain.

Publikováno v: American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2022 Dec 15; Vol. 206 (12), pp. 1522-1533.