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3. Report from the Annual Conference of the British Society of Echocardiography, October 2018, ACC Liverpool, Liverpool

Author

Sharma, V., Al Saikhan, L., Park, C., Hughes, A., Gu, H., Saeed, S., Boguslavskyi, A., Carr-White, G., Chambers, J., Chowienczyk, P., Jain, M., Jessop, H., Turner, C., Bassindale-Maguire, G., Baig, W., Kidambi, A., Abdel-Rahman, S. T., Schlosshan, D., Sengupta, A., Fitzpatrick, A., Sandoval, J., Hickman, S., Procter, H., Taylor, J., Kaur, H., Knowles, C., Wheatcroft, S., Witte, K., Gatenby, K., Willis, J. A., Kendler-Rhodes, A., Slegg, O., Carson, K., Easaw, J., Kandan, S. R., Rodrigues, J. C. L., MacKenzie-Ross, R., Hall, T., Robinson, G., Little, D., Hudson, B., Pauling, J., Redman, S., Graham, R., Coghlan, G., Suntharalingam, J., Augustine, D. X., Nowak, J. W. M., and Masters, A. T.

Published
2020
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6. Genome-wide association study in chronic thromboembolic pulmonary hypertension reveals new insights into aetiology: S108

Author

Newnham, M, Toshner, M, Bleda, M, Auger, W R, Barberà, J A, Bogaard, H J, Cannon, J, Coghlan, G, Corris, P A, Delcroix, M, Dunning, J, Elding, H, Gibbs, S, Hadinnapola, C, Jenkins, D, Kiely, D, Lang, I, Maher, E, Ng, C, Peacock, A, Screaton, N, Sheares, K, Simpson, M, Soranzo, N, Taboada, D, Trembath, R, Tsui, S, Wilkins, M R, Wort, S J, Gräf, S, Pepke-Zaba, J, and Morrell, N W

Published
2017
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7. Longitudinal Analysis of Three Major Risk-Associated Transcriptomic Subgroups Within the IPAH Classification

Author

Kariotis, S., primary, Jammeh, E., additional, Swietlik, E.M., additional, Rhodes, C.J., additional, Errington, N., additional, Thompson, R., additional, Wharton, J., additional, Coghlan, G., additional, Lordan, J., additional, Corris, P., additional, Howard, L.S., additional, Condliffe, R.A., additional, Kiely, D., additional, Church, A.C., additional, Pepke-Zaba, J., additional, Toshner, M., additional, Wort, J., additional, Gräf, S., additional, Morrell, N.W., additional, Wilkins, M., additional, Wang, D., additional, and Lawrie, A., additional

Published
2022
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8. Biological heterogeneity in idiopathic pulmonary arterial hypertension identified through unsupervised transcriptomic profiling of whole blood

Author

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, and Schotte, G

Abstract

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 response. Here we show unsupervised machine learning identification of three major patient subgroups that account for 92% of the cohort, each with unique whole blood transcriptomic and clinical feature signatures. These subgroups are associated with poor, moderate, and good prognosis. The poor prognosis subgroup is associated with upregulation of the ALAS2 and downregulation of several immunoglobulin genes, while the good prognosis subgroup is defined by upregulation of the bone morphogenetic protein signalling regulator NOG, and the C/C variant of HLA-DPA1/DPB1 (independently associated with survival). These findings independently validated provide evidence for the existence of 3 major subgroups (endophenotypes) within the IPAH classification, could improve risk stratification and provide molecular insights into the pathogenesis of IPAH.

Published
2021

10. Treatment effect of selexipag on time to disease progression when initiated early in pulmonary arterial hypertension (PAH) patients: GRIPHON and TRITON pooled analysis

Author

Coghlan, G J, primary, Gaine, S, additional, Channick, R N, additional, Chin, K M, additional, Du Roure, C, additional, Gibbs, J S R, additional, Hoeper, M M, additional, Lang, I M, additional, Mathai, S C, additional, McLaughlin, V V, additional, Mitchell, L, additional, Simonneau, G, additional, Sitbon, O, additional, Tapson, V, additional, and Galie, N, additional

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

Author

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, Graf, 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, Kariotis, Sokratis [0000-0001-9993-6017], Pickworth, Josephine A [0000-0002-7199-364X], Rhodes, Christopher J [0000-0002-4962-3204], Wharton, John [0000-0001-8110-2575], Iremonger, James [0000-0003-3953-8812], Dunning, Mark J [0000-0002-8853-9435], Errington, Niamh [0000-0001-6768-7394], Thompson, AA Roger [0000-0002-0717-4551], Howard, Luke S [0000-0003-2822-210X], Graf, Stefan [0000-0002-1315-8873], Wilkins, Martin R [0000-0003-3926-1171], Lawrie, Allan [0000-0003-4192-9505], Wang, Dennis [0000-0003-0068-1005], Apollo - University of Cambridge Repository, Gräf, Stefan [0000-0002-1315-8873], Pickworth, Josephine A. [0000-0002-7199-364X], Rhodes, Christopher J. [0000-0002-4962-3204], Dunning, Mark J. [0000-0002-8853-9435], Thompson, A. A. Roger [0000-0002-0717-4551], Howard, Luke S. [0000-0003-2822-210X], Wilkins, Martin R. [0000-0003-3926-1171], Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, and ACS - Atherosclerosis & ischemic syndromes

Subjects
HYPOXIA-INDUCED PROLIFERATION, OPERATED CALCIUM-ENTRY, Classification and taxonomy, Science, PROGNOSTIC IMPACT, General Physics and Astronomy, Down-Regulation, 631/114/2404, General Biochemistry, Genetics and Molecular Biology, 38/91, Functional clustering, Genomic analysis, 631/114/1386, 631/1647/2217, Humans, Familial Primary Pulmonary Hypertension, HLA-DP beta-Chains, RISK SCORE CALCULATOR, OUTCOMES, Pulmonary Arterial Hypertension, Science & Technology, Multidisciplinary, Gene Expression Profiling, 692/4019/592/75, article, 49/39, General Chemistry, Multidisciplinary Sciences, IRON-DEFICIENCY, Cardiovascular diseases, UK National PAH Cohort Study Consortium, REGISTRY, ASSESSMENTS, SURVIVAL, Science & Technology - Other Topics, Transcriptome, 5-Aminolevulinate Synthetase
Abstract

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 response. Here we show unsupervised machine learning identification of three major patient subgroups that account for 92% of the cohort, each with unique whole blood transcriptomic and clinical feature signatures. These subgroups are associated with poor, moderate, and good prognosis. The poor prognosis subgroup is associated with upregulation of the ALAS2 and downregulation of several immunoglobulin genes, while the good prognosis subgroup is defined by upregulation of the bone morphogenetic protein signalling regulator NOG, and the C/C variant of HLA-DPA1/DPB1 (independently associated with survival). These findings independently validated provide evidence for the existence of 3 major subgroups (endophenotypes) within the IPAH classification, could improve risk stratification and provide molecular insights into the pathogenesis of IPAH., Idiopathic pulmonary arterial hypertension is a rare and fatal disease with a heterogeneous treatment response. Here the authors show that unsupervised machine learning of whole blood transcriptomes from 359 patients with idiopathic pulmonary arterial hypertension identifies 3 subgroups (endophenotypes) that improve risk stratification and provide new molecular insights.

Published
2020

13. Idiopathic pulmonary arterial hypertension phenotypes determined by cluster analysis from the COMPERA registry

Author

Hoeper, M.M. Pausch, C. Grünig, E. Klose, H. Staehler, G. Huscher, D. Pittrow, D. Olsson, K.M. Vizza, C.D. Gall, H. Benjamin, N. Distler, O. Opitz, C. Gibbs, J.S.R. Delcroix, M. Ghofrani, H.A. Rosenkranz, S. Ewert, R. Kaemmerer, H. Lange, T.J. Kabitz, H.-J. Skowasch, D. Skride, A. Jureviciene, E. Paleviciute, E. Miliauskas, S. Claussen, M. Behr, J. Milger, K. Halank, M. Wilkens, H. Wirtz, H. Pfeuffer-Jovic, E. Harbaum, L. Scholtz, W. Dumitrescu, D. Bruch, L. Coghlan, G. Neurohr, C. Tsangaris, I. Gorenflo, M. Scelsi, L. Vonk-Noordegraaf, A. Ulrich, S. Held, M.

Abstract

The term idiopathic pulmonary arterial hypertension (IPAH) is used to categorize patients with pre-capillary pulmonary hypertension of unknown origin. There is considerable variability in the clinical presentation of these patients. Using data from the Comparative, Prospective Registry of Newly Initiated Therapies for Pulmonary Hypertension, we performed a cluster analysis of 841 patients with IPAH based on age, sex, diffusion capacity of the lung for carbon monoxide (DLCO

Published
2020

14. Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis

Author

Saccardi, R, Tyndall, A, Coghlan, G, Denton, C, Edan, G, Emdin, M, Farge, D, Fassas, A, Finke, J, Furst, D, Lassus, M, Mancardi, G, Miniati, I, Mini, E, Pagliai, F, Passweg, J, Pignone, A, van Laar, J M, Bocelli-Tyndall, C, and Matucci-Cerinic, M

Published
2004
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23. Reduced right ventricular contractile reserve in patients with systemic sclerosis and borderline pulmonary arterial pressures

Author

Marra, A. M., Nagel, C., Benjamin, N., Blank, N., Cittadini, A., Coghlan, G., Distler, O., Denton, C. P., Fiehn, C., Egenlauf, B., Xanthouli, P., Marius Hoeper, Lorenz, H. M., Bossone, E., Gruenig, E., Marra, Am, Nagel, C, Benjamin, N, Blank, N, Cittadini, A, Coghlan, G, Distler, O, Denton, Cp, Fiehn, C, Egenlauf, B, Xanthouli, P, Hoeper, Mm, Lorenz, Hm, Bossone, E, and Gruenig, E

Published
2018

24. European Respiratory Society Task Force: Exercise Training and Rehabilitation in Patients with Severe Chronic Pulmonary Hypertension

Author

Gruenig, E., Barbera, J. A., Benjamin, N., Blanco, I., Bossone, E., Cittadini, A., Coghlan, G., Corris, P., D Alto, M., D Andrea, A., Delcroix, M., Man, F., Eichstaedt, C. A., Gaine, S. P., Stefano Ghio, Gibbs, S., Gumbiene, L., Howard, L. S., Johnson, M., Jureviien, E., Kiely, D., Kovacs, G., Mackenzie, A., Marra, A., Mccaffrey, N., Mccaughey, P. N., Naeije, R., Olschewski, H., Pepke-Zaba, J., Reis, A., Santos, M., Saxer, S., Tulloh, R., Ulrich, S., Noordegraaf, A. Vonk, Peacock, A. J., Grunig, E, Barbera, Ja, Benjamin, N, Blanco, I, Bossone, E, Cittadini, A, Coghlan, G, Corris, P, D'Alto, M, D'Andrea, A, Delcroix, M, De Man, F, Eichstaedt, Ca, Gaine, Sp, Ghio, S, Gibbs, S, Gumbiene, L, Howard, L, Johnson, M, Jureviien, E, Kiely, D, Kovacs, G, Mackenzie, A, Marra, A, Mccaffrey, N, Mccaughey, Pn, Naeije, R, Olschewski, H, Pepke-Zaba, J, Reis, A, Santos, M, Saxer, S, Tulloh, R, Ulrich, S, Noordegraaf, Av, and Peacock, Aj

Published
2018

29. Early treatment with Ambrisentan of mildly elevated mean pulmonary arterial pressure associated with systemic sclerosis: a randomized, controlled, double-blind, parallel group study (EDITA-Study)

Author

Xanthouli, P, Pan, Z, Marra, A, Benjamin, N, Eichstaedt, C, Blank, N, Bossone, E, Cittadini, A, Coghlan, G, Denton, CP, Distler, O, Egenlauf, B, Fischer, C, Harutyunova, S, Lorenz, HM, and Grünig, E

Subjects
ddc: 610, integumentary system, 610 Medical sciences, Medicine, skin and connective tissue diseases
Abstract

Background: The objective of this randomized, placebo-controlled, double-blind, parallel group, trial was to assess the effect of ambrisentan on mean pulmonary arterial pressure (mPAP) in patients with systemic sclerosis (SSc) and mildly elevated mPAP. Methods: Thirty-eight SSc-patients with mildly[for full text, please go to the a.m. URL], 47. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 33. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 29. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)

Published
2019
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30. Germline selection shapes human mitochondrial DNA diversity

Author

Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, Attwood, A, Brown, M, Brod, NC, Crisp-Hihn, A, Davis, J, Deevi, SVV, Dewhurst, EF, Edwards, K, Erwood, M, Fox, J, Frary, AJ, Hu, F, Jolley, J, Kingston, N, Linger, R, Mapeta, R, Martin, J, Meacham, S, Papadia, S, Rayner-Matthews, PJ, Samarghitean, C, Shamardina, O, Simeoni, I, Staines, S, Staples, E, Stark, H, Stephens, J, Titterton, C, Von Ziegenweidt, J, Watt, C, Whitehorn, D, Wood, Y, Yates, K, Yu, P, James, R, Ashford, S, Penkett, CJ, Stirrups, KE, Bariana, T, Lentaigne, C, Sivapalaratnam, S, Westbury, SK, Allsup, DJ, Bakchoul, T, Biss, T, Boyce, S, Collins, J, Collins, PW, Curry, NS, Downes, K, Dutt, T, Erber, WN, Evans, G, Everington, T, Favier, R, Gomez, K, Greene, D, Gresele, P, Hart, D, Kazmi, R, Kelly, AM, Lambert, M, Madan, B, Mangles, S, Mathias, M, Millar, C, Obaji, S, Peerlinck, K, Roughley, C, Schulman, S, Scully, M, Shapiro, SE, Sibson, K, Sims, MC, Tait, RC, Talks, K, Thys, C, Toh, C-H, Van Geet, C, Westwood, J-P, Mumford, AD, Ouwehand, WH, Freson, K, Laffan, MA, Tan, RYY, Harkness, K, Mehta, S, Muir, KW, Hassan, A, Traylor, M, Drazyk, AM, Parry, D, Ahmed, M, Kazkaz, H, Vandersteen, AM, Ormondroyd, E, Thomson, K, Dent, T, Buchan, RJ, Bueser, T, Carr-White, G, Cook, S, Daniels, MJ, Harper, AR, Ware, JS, Dixon, PH, Chambers, J, Cheng, F, Estiu, MC, Hague, WM, Marschall, H-U, Vazquez-Lopez, M, Arno, G, French, CE, Michaelides, M, Moore, AT, Sanchis-Juan, A, Carss, K, Raymond, FL, Chinnery, PF, Griffiths, P, Horvath, R, Hudson, G, Jurkute, N, Pyle, A, Yu-Wai-Man, P, Whitworth, J, Adlard, J, Armstrong, R, Brewer, C, Casey, R, Cole, TRP, Evans, DG, Greenhalgh, L, Hanson, HL, Hoffman, J, Izatt, L, Kumar, A, Lalloo, F, Ong, KR, Park, S-M, Searle, C, Side, L, Snape, K, Woodward, E, Tischkowitz, M, Grozeva, D, Kurian, MA, Themistocleous, AC, Gosal, D, Marshall, A, Matthews, E, McCarthy, MI, Renton, T, Rice, ASC, Vale, T, Walker, SM, Woods, CG, Thaventhiran, JE, Allen, HL, Savic, S, Alachkar, H, Antrobus, R, Baxendale, HE, Browning, MJ, Buckland, MS, Cooper, N, Edgar, JDM, Egner, W, Gilmour, KC, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Hayman, G, Herwadkar, A, Huissoon, AP, Jolles, S, Kelleher, P, Kumararatne, D, Longhurst, H, Lorenzo, LE, Lyons, PA, Maimaris, J, Noorani, S, Richter, A, Sargur, RB, Sewell, WAC, Thomas, D, Thomas, MJ, Worth, A, Yong, PFK, Kuijpers, TW, Thrasher, AJ, Levine, AP, Sadeghi-Alavijeh, O, Wong, EKS, Cook, HT, Chan, MMY, Hall, M, Harris, C, McAlinden, P, Marchbank, KJ, Marks, S, Maxwell, H, Mozere, M, Wessels, J, Johnson, SA, Bleda, M, Hadinnapola, C, Haimel, M, Swietlik, E, Bogaard, H, Church, C, Coghlan, G, Condliffe, R, Corris, P, Danesino, C, Eyries, M, Gall, H, Ghofrani, H-A, Gibbs, JSR, Girerd, B, Holden, S, Houweling, A, Howard, LS, Humbert, M, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Moledina, S, Montani, D, Newnham, M, Olschewski, A, Olschewski, H, Peacock, A, Pepke-Zaba, J, Scelsi, L, Seeger, W, Soubrier, F, Suntharalingam, J, Toshner, M, Treacy, C, Trembath, R, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Wilkins, MR, Wort, SJ, Graf, S, Louka, E, Roy, NB, Rao, A, Ancliff, P, Babbs, C, Layton, DM, Mead, AJ, O'Sullivan, J, Okoli, S, Saleem, M, Bierzynska, A, Diz, CB, Colby, E, Ekani, MN, Satchell, S, Fowler, T, Rendon, A, Scott, R, Smedley, D, Thomas, E, Caulfield, M, Abbs, S, Burrows, N, Chitre, M, Gattens, M, Gurnell, M, Kelsall, W, Poole, KES, Ross-Russell, R, Spasic-Boskovic, O, Twiss, P, Wagner, A, Banka, S, Clayton-Smith, J, Douzgou, S, Abulhoul, L, Aurora, P, Bockenhauer, D, Cleary, M, Dattani, M, Ganesan, V, Pilkington, C, Rahman, S, Shah, N, Wedderburn, L, Compton, CJ, Deshpande, C, Fassihi, H, Haque, E, Josifova, D, Mohammed, SN, Robert, L, Rose, SJ, Ruddy, DM, Sarkany, RN, Sayer, G, Shaw, AC, Campbell, C, Gibson, K, Koelling, N, Lester, T, Nemeth, AH, Palles, C, Patel, S, Sen, A, Taylor, J, Tomlinson, IP, Malka, S, Browning, AC, Burn, J, De Soyza, A, Graham, J, Pearce, S, Quinton, R, Schaefer, AM, Wilson, BT, Wright, M, Simpson, M, Syrris, P, Bradley, JR, Turro, E, ARD - Amsterdam Reproduction and Development, AII - Inflammatory diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, Medical Research Council (MRC), Wellcome Trust, Wei, Wei [0000-0002-2945-3543], Tuna, Salih [0000-0003-3606-4367], Smith, Katherine R [0000-0002-0329-5938], Beales, Phil L [0000-0002-9164-9782], Bennett, David L [0000-0002-7996-2696], Gale, Daniel P [0000-0002-9170-1579], Brennan, Paul [0000-0003-1128-6254], Elliott, Perry [0000-0003-3383-3984], Floto, R Andres [0000-0002-2188-5659], Houlden, Henry [0000-0002-2866-7777], Koziell, Ania [0000-0003-4882-0246], Maher, Eamonn R [0000-0002-6226-6918], Markus, Hugh S [0000-0002-9794-5996], Morrell, Nicholas W [0000-0001-5700-9792], Newman, William G [0000-0002-6382-4678], Sayer, John A [0000-0003-1881-3782], Smith, Kenneth GC [0000-0003-3829-4326], Taylor, Jenny C [0000-0003-3602-5704], Watkins, Hugh [0000-0002-5287-9016], Webster, Andrew R [0000-0001-6915-9560], Wilkie, Andrew OM [0000-0002-2972-5481], Penkett, Christopher J [0000-0003-4006-7261], Stirrups, Kathleen E [0000-0002-6823-3252], Rendon, Augusto [0000-0001-8994-0039], Bradley, John R [0000-0002-7774-8805], Turro, Ernest [0000-0002-1820-6563], Chinnery, Patrick F [0000-0002-7065-6617], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Non-Mendelian inheritance, Genome, Mitochondrial/genetics, DNA, Mitochondrial/genetics, 0302 clinical medicine, Ovum/growth & development, MTDNA, TRANSCRIPTION, Genetics, education.field_of_study, Multidisciplinary, NIHR BioResource–Rare Diseases, ASSOCIATION, Heteroplasmy, Mitochondrial, Multidisciplinary Sciences, GENOME, REPLACEMENT, Science & Technology - Other Topics, Female, Maternal Inheritance, Mitochondrial DNA, General Science & Technology, Genetic genealogy, Population, Biology, Human mitochondrial genetics, SEQUENCE, DNA, Mitochondrial, 03 medical and health sciences, Genetic, 100,000 Genomes Project–Rare Diseases Pilot, Genetic variation, MD Multidisciplinary, Humans, Selection, Genetic, education, Selection, Ovum, Science & Technology, MUTATIONS, Genetic Variation, DNA, LEIGH-DISEASE, 030104 developmental biology, REPLICATION, Genome, Mitochondrial, HETEROPLASMY, 030217 neurology & neurosurgery
Abstract

INTRODUCTION Only 2.4% of the 16.5-kb mitochondrial DNA (mtDNA) genome shows homoplasmic variation at >1% frequency in humans. Migration patterns have contributed to geographic differences in the frequency of common genetic variants, but population genetic evidence indicates that selection shapes the evolving mtDNA phylogeny. The mechanism and timing of this process are not clear. Unlike the nuclear genome, mtDNA is maternally transmitted and there are many copies in each cell. Initially, a new genetic variant affects only a proportion of the mtDNA (heteroplasmy). During female germ cell development, a reduction in the amount of mtDNA per cell causes a “genetic bottleneck,” which leads to rapid segregation of mtDNA molecules and different levels of heteroplasmy between siblings. Although heteroplasmy is primarily governed by random genetic drift, there is evidence of selection occurring during this process in animals. Yet it has been difficult to demonstrate this convincingly in humans. RATIONALE To determine whether there is selection for or against heteroplasmic mtDNA variants during transmission, we studied 12,975 whole-genome sequences, including 1526 mother–offspring pairs of which 45.1% had heteroplasmy affecting >1% of mtDNA molecules. Harnessing both the mtDNA and nuclear genome sequences, we then determined whether the nuclear genetic background influenced mtDNA heteroplasmy, validating our findings in another 40,325 individuals. RESULTS Previously unknown mtDNA variants were less likely to be inherited than known variants, in which the level of heteroplasmy tended to increase on transmission. Variants in the ribosomal RNA genes were less likely to be transmitted, whereas variants in the noncoding displacement (D)–loop were more likely to be transmitted. MtDNA variants predicted to affect the protein sequence tended to have lower heteroplasmy levels than synonymous variants. In 12,975 individuals, we identified a correlation between the location of heteroplasmic sites and known D-loop polymorphisms, including the absence of variants in critical sites required for mtDNA transcription and replication. We defined 206 unrelated individuals for which the nuclear and mitochondrial genomes were from different human populations. In these individuals, new population-specific heteroplasmies were more likely to match the nuclear genetic ancestry than the mitochondrial genome on which the mutations occurred. These findings were independently replicated in 654 additional unrelated individuals. CONCLUSION The characteristics of mtDNA in the human population are shaped by selective forces acting on heteroplasmy within the female germ line and are influenced by the nuclear genetic background. The signature of selection can be seen over one generation, ensuring consistency between these two independent genetic systems.

Published
2019
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32. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

Author

Galie, N, Humbert, M, Vachiery, J, Gibbs, S, Lang, I, Torbicki, A, Simonneau, G, Peacock, A, Vonk Noordegraaf, A, Beghetti, M, Ghofrani, A, Gomez Sanchez, M, Hansmann, G, Klepetko, W, Lancellotti, P, Matucci, M, Mcdonagh, T, Pierard, L, Trindade, P, Zompatori, M, Hoeper, M, Aboyans, V, Vaz Carneiro, A, Achenbach, S, Agewall, S, Allanore, Y, Asteggiano, R, Badano, L, Albert Barbera, J, Bouvaist, H, Bueno, H, Byrne, R, Carerj, S, Castro, G, Erol, C, Falk, V, Funck-Brentano, C, Gorenflo, M, Granton, J, Iung, B, Kiely, D, Kirchhof, P, Kjellstrom, B, Landmesser, U, Lekakis, J, Lionis, C, Lip, G, Orfanos, S, Park, M, Piepoli, M, Ponikowski, P, Revel, M, Rigau, D, Rosenkranz, S, Voller, H, Luis Zamorano, J, Myftiu, S, Bonderman, D, Firdovsi, I, Lazareva, I, De Pauw, M, Sokolovic, S, Velchev, V, Cikes, M, Moutiris, J, Jansa, P, Nielsen-Kudsk, J, Anton, L, Jaaskelainen, P, Bauer, F, Chukhrukidze, A, Opitz, C, Giannakoulas, G, Karlocai, K, Oddsson, O, Gaine, S, Menachemi, D, Emdin, M, Sooronbaev, T, Rudzitis, A, Gumbiene, L, Lebrun, F, Micallef, J, Botnaru, V, Oukerraj, L, Andreassen, A, Kurzyna, M, Leite Baptista, M, Coman, I, Moiseeva, O, Stefanovic, B, Simkova, I, Wikstrom, G, Schwerzmann, M, Srbinovska-Kostovska, E, van Dijk, A, Mahdhaoui, A, Kaymaz, C, Coghlan, G, Sirenko, Y, Galie N., Humbert M., Vachiery J. -L., Gibbs S., Lang I., Torbicki A., Simonneau G., Peacock A., Vonk Noordegraaf A., Beghetti M., Ghofrani A., Gomez Sanchez M. A., Hansmann G., Klepetko W., Lancellotti P., Matucci M., McDonagh T., Pierard L. A., Trindade P. T., Zompatori M., Hoeper M., Aboyans V., Vaz Carneiro A., Achenbach S., Agewall S., Allanore Y., Asteggiano R., Badano L., Albert Barbera J., Bouvaist H., Bueno H., Byrne R. A., Carerj S., Castro G., Erol C., Falk V., Funck-Brentano C., Gorenflo M., Granton J., Iung B., Kiely D. G., Kirchhof P., Kjellstrom B., Landmesser U., Lekakis J., Lionis C., Lip G. Y. H., Orfanos S. E., Park M. H., Piepoli M. F., Ponikowski P., Revel M. -P., Rigau D., Rosenkranz S., Voller H., Luis Zamorano J., Myftiu S., Bonderman D., Firdovsi I., Lazareva I., De Pauw M., Sokolovic S., Velchev V., Cikes M., Moutiris J. A., Jansa P., Nielsen-Kudsk J. E., Anton L., Jaaskelainen P., Bauer F., Chukhrukidze A., Opitz C., Giannakoulas G., Karlocai K., Oddsson O., Gaine S., Menachemi D., Emdin M., Sooronbaev T., Rudzitis A., Gumbiene L., Lebrun F., Micallef J., Botnaru V., Oukerraj L., Andreassen A. K., Kurzyna M., Leite Baptista M. J. R., Coman I. M., Moiseeva O., Stefanovic B. S., Simkova I., Wikstrom G., Schwerzmann M., Srbinovska-Kostovska E., van Dijk A. P. J., Mahdhaoui A., Kaymaz C., Coghlan G., Sirenko Y., Galie, N, Humbert, M, Vachiery, J, Gibbs, S, Lang, I, Torbicki, A, Simonneau, G, Peacock, A, Vonk Noordegraaf, A, Beghetti, M, Ghofrani, A, Gomez Sanchez, M, Hansmann, G, Klepetko, W, Lancellotti, P, Matucci, M, Mcdonagh, T, Pierard, L, Trindade, P, Zompatori, M, Hoeper, M, Aboyans, V, Vaz Carneiro, A, Achenbach, S, Agewall, S, Allanore, Y, Asteggiano, R, Badano, L, Albert Barbera, J, Bouvaist, H, Bueno, H, Byrne, R, Carerj, S, Castro, G, Erol, C, Falk, V, Funck-Brentano, C, Gorenflo, M, Granton, J, Iung, B, Kiely, D, Kirchhof, P, Kjellstrom, B, Landmesser, U, Lekakis, J, Lionis, C, Lip, G, Orfanos, S, Park, M, Piepoli, M, Ponikowski, P, Revel, M, Rigau, D, Rosenkranz, S, Voller, H, Luis Zamorano, J, Myftiu, S, Bonderman, D, Firdovsi, I, Lazareva, I, De Pauw, M, Sokolovic, S, Velchev, V, Cikes, M, Moutiris, J, Jansa, P, Nielsen-Kudsk, J, Anton, L, Jaaskelainen, P, Bauer, F, Chukhrukidze, A, Opitz, C, Giannakoulas, G, Karlocai, K, Oddsson, O, Gaine, S, Menachemi, D, Emdin, M, Sooronbaev, T, Rudzitis, A, Gumbiene, L, Lebrun, F, Micallef, J, Botnaru, V, Oukerraj, L, Andreassen, A, Kurzyna, M, Leite Baptista, M, Coman, I, Moiseeva, O, Stefanovic, B, Simkova, I, Wikstrom, G, Schwerzmann, M, Srbinovska-Kostovska, E, van Dijk, A, Mahdhaoui, A, Kaymaz, C, Coghlan, G, Sirenko, Y, Galie N., Humbert M., Vachiery J. -L., Gibbs S., Lang I., Torbicki A., Simonneau G., Peacock A., Vonk Noordegraaf A., Beghetti M., Ghofrani A., Gomez Sanchez M. A., Hansmann G., Klepetko W., Lancellotti P., Matucci M., McDonagh T., Pierard L. A., Trindade P. T., Zompatori M., Hoeper M., Aboyans V., Vaz Carneiro A., Achenbach S., Agewall S., Allanore Y., Asteggiano R., Badano L., Albert Barbera J., Bouvaist H., Bueno H., Byrne R. A., Carerj S., Castro G., Erol C., Falk V., Funck-Brentano C., Gorenflo M., Granton J., Iung B., Kiely D. G., Kirchhof P., Kjellstrom B., Landmesser U., Lekakis J., Lionis C., Lip G. Y. H., Orfanos S. E., Park M. H., Piepoli M. F., Ponikowski P., Revel M. -P., Rigau D., Rosenkranz S., Voller H., Luis Zamorano J., Myftiu S., Bonderman D., Firdovsi I., Lazareva I., De Pauw M., Sokolovic S., Velchev V., Cikes M., Moutiris J. A., Jansa P., Nielsen-Kudsk J. E., Anton L., Jaaskelainen P., Bauer F., Chukhrukidze A., Opitz C., Giannakoulas G., Karlocai K., Oddsson O., Gaine S., Menachemi D., Emdin M., Sooronbaev T., Rudzitis A., Gumbiene L., Lebrun F., Micallef J., Botnaru V., Oukerraj L., Andreassen A. K., Kurzyna M., Leite Baptista M. J. R., Coman I. M., Moiseeva O., Stefanovic B. S., Simkova I., Wikstrom G., Schwerzmann M., Srbinovska-Kostovska E., van Dijk A. P. J., Mahdhaoui A., Kaymaz C., Coghlan G., and Sirenko Y.

Abstract

Document Reviewers: Victor Aboyans (CPG Review Coordinator) (France), Antonio Vaz Carneiro (CPG Review Coordinator) (Portugal), Stephan Achenbach (Germany), Stefan Agewall (Norway), Yannick Allanore (France), Riccardo Asteggiano (Italy), Luigi Paolo Badano (Italy), Joan Albert Barbera (Spain), Helene Bouvaist (France), Hector Bueno (Spain), Robert A. Byrne (Germany), Scipione Carerj (Italy), Graca Castro (Portugal), Cetin Erol (Turkey), Volkmar Falk (Germany), Christian Funck-Brentano (France), Matthias Gorenflo (Germany), John Granton (Canada), Bernard Iung (France), David G. Kiely (UK), Paulus Kirchhof (Germany/UK), Barbro Kjellstrom (Sweden), Ulf Landmesser (Switzerland), John Lekakis (Greece), Christos Lionis (Greece), Gregory Y. H. Lip (UK), Stylianos E. Orfanos (Greece), Myung H. Park (USA), Massimo F. Piepoli (Italy), Piotr Ponikowski (Poland), Marie-Pierre Revel (France), David Rigau (ERS methodologist) (Switzerland), Stephan Rosenkranz (Germany), Heinz Voller (Germany), and Jose Luis Zamorano (Spain)

Published
2016

33. Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes

Author

Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Arno, G, Arumugakani, G, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Papadia, S, Parker, A, Pasi, J, Patch, C, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, and Yu, P

Abstract

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.

Published
2018

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

Author

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, Lynch, Andy G [0000-0002-7876-7338], Apollo - University of Cambridge Repository, Medical Research Council (MRC), and British Heart Foundation

Subjects
Whole genome sequencing, 0303 health sciences, Multidisciplinary, Science & Technology, lcsh:R, lcsh:Medicine, Computational biology, Biology, Telomere, Multidisciplinary Sciences, 03 medical and health sciences, 0302 clinical medicine, NIHR BioResource - Rare Diseases, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Science & Technology - Other Topics, lcsh:Q, Ploidy, lcsh:Science, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

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 incorrectly given as Patrick Yu Wai Man. In addition, a supplementary file containing additional algorithms and analysis was omitted from the original version of this Article. These errors have now been corrected in the HTML and PDF versions of the Article.

Published
2018

35. Echocardiographic assessment of pulmonary hypertension: a guideline protocol from the British Society of Echocardiography

Author

Augustine, DX, Coates-Bradshaw, LD, Willis, J, Harkness, A, Ring, L, Grapsa, J, Coghlan, G, Kaye, N, Oxborough, D, Robinson, S, Sandoval, J, Rana, BS, Siva, A, Nihoyannopoulos, P, Howard, LS, Fox, K, Bhattacharyya, S, Sharma, V, Steeds, RP, Mathew, T, and British Society of Echocardiography Education Committee

Subjects
medicine.medical_specialty, Mean arterial pressure, lcsh:Diseases of the circulatory (Cardiovascular) system, Guidelines and Recommendations, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, medicine.artery, Internal medicine, pulmonary hypertension, medicine, echocardiography, Radiology, Nuclear Medicine and imaging, Advanced and Specialized Nursing, British Society of Echocardiography Education Committee, Radiological and Ultrasound Technology, business.industry, Central venous pressure, Guideline, medicine.disease, Pulmonary hypertension, QP, Blood pressure, 030228 respiratory system, lcsh:RC666-701, Pulmonary artery, Cohort, Cardiology, Transthoracic echocardiogram, business, guideline
Abstract

Pulmonary hypertension is defined as a mean arterial pressure of ≥25 mmHg as confirmed on right heart catheterisation. Traditionally, the pulmonary arterial systolic pressure has been estimated on echo by utilising the simplified Bernoulli equation from the peak tricuspid regurgitant velocity and adding this to an estimate of right atrial pressure. Previous studies have demonstrated a correlation between this estimate of pulmonary arterial systolic pressure and that obtained from invasive measurement across a cohort of patients. However, for an individual patient significant overestimation and underestimation can occur and the levels of agreement between the two is poor. Recent guidance has suggested that echocardiographic assessment of pulmonary hypertension should be limited to determining the probability of pulmonary hypertension being present rather than estimating the pulmonary artery pressure. In those patients in whom the presence of pulmonary hypertension requires confirmation, this should be done with right heart catheterisation when indicated. This guideline protocol from the British Society of Echocardiography aims to outline a practical approach to assessing the probability of pulmonary hypertension using echocardiography and should be used in conjunction with the previously published minimum dataset for a standard transthoracic echocardiogram.

Published
2018

36. P119 Evolving surgical expertise and patient choice in pulmonary endarterectomy

Author

Babu, A, primary, Ruggiero, A, additional, Cannon, JE, additional, Coghlan, G, additional, Lordan, J, additional, Howard, L, additional, Jenkins, D, additional, Johnson, M, additional, Kiely, DG, additional, Ng, C, additional, Screaton, N, additional, Sheares, K, additional, Taboada, D, additional, Taghavi, J, additional, Toshner, M, additional, Tsui, S, additional, Wort, SJ, additional, and Pepke-Zaba, J, additional

Published
2019
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37. P117 Machine learning tool provides new insights into risk assessment in pulmonary endarterectomy

Author

Bunclark, K, primary, Liley, J, additional, Newnham, M, additional, Ruggiero, A, additional, Cannon, JE, additional, Coghlan, G, additional, Lordan, J, additional, Howard, L, additional, Jenkins, D, additional, Johnson, M, additional, Kiely, DG, additional, Ng, C, additional, Screaton, N, additional, Sheares, K, additional, Taboada, D, additional, Tsui, S, additional, Wort, SJ, additional, Pepke-Zaba, J, additional, and Toshner, M, additional

Published
2019
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38. A Multicentre Study of Anticoagulation in Operable Chronic Thromboembolic Pulmonary Hypertension

Author

Bunclark, K., primary, Newnham, M., additional, Chiu, Y.-D., additional, Ruggiero, A., additional, Villar, S., additional, Cannon, J., additional, Coghlan, G., additional, Corris, P.A., additional, Howard, L., additional, Jenkins, D., additional, Johnson, M., additional, Kiely, D., additional, Ng, C., additional, Screaton, N., additional, Sheares, K., additional, Taboada, D., additional, Tsui, S., additional, Wort, J., additional, Pepke-Zaba, J., additional, and Toshner, M., additional

Published
2019
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39. S40 Phenotypic characterisation of GDF2 mutation carriers in a large cohort of patients with pulmonary arterial hypertension

Author

Swietlik, EM, primary, Hodgson, J, additional, Hadinnapola, C, additional, Bleda, M, additional, Haimel, M, additional, Church, C, additional, Coghlan, G, additional, Condliffe, R, additional, Corris, PA, additional, Gibbs, JSR, additional, Holden, S, additional, Howard, L, additional, Humbert, M, additional, Jonson, M, additional, Kiely, DG, additional, Lawrie, A, additional, Lordan, J, additional, MacKenzie Ross, RV, additional, Olschewski, H, additional, Moledina, S, additional, Peacock, AJ, additional, Pepke-Zaba, J, additional, Suntharalingam, J, additional, Seeger, W, additional, Toshner, MR, additional, Trembath, RC, additional, Vonk Noordegraaf, A, additional, Wharton, J, additional, Wilkins, MR, additional, Wort, SJ, additional, Upton, PD, additional, Gräf, S, additional, and Morrell, NW, additional

Published
2018
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41. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

Author

Galie N., Humbert M., Vachiery J. -L., Gibbs S., Lang I., Torbicki A., Simonneau G., Peacock A., Vonk Noordegraaf A., Beghetti M., Ghofrani A., Gomez Sanchez M. A., Hansmann G., Klepetko W., Lancellotti P., Matucci M., McDonagh T., Pierard L. A., Trindade P. T., Zompatori M., Hoeper M., Aboyans V., Vaz Carneiro A., Achenbach S., Agewall S., Allanore Y., Asteggiano R., Badano L., Albert Barbera J., Bouvaist H., Bueno H., Byrne R. A., Carerj S., Castro G., Erol C., Falk V., Funck-Brentano C., Gorenflo M., Granton J., Iung B., Kiely D. G., Kirchhof P., Kjellstrom B., Landmesser U., Lekakis J., Lionis C., Lip G. Y. H., Orfanos S. E., Park M. H., Piepoli M. F., Ponikowski P., Revel M. -P., Rigau D., Rosenkranz S., Voller H., Luis Zamorano J., Myftiu S., Bonderman D., Firdovsi I., Lazareva I., De Pauw M., Sokolovic S., Velchev V., Cikes M., Moutiris J. A., Jansa P., Nielsen-Kudsk J. E., Anton L., Jaaskelainen P., Bauer F., Chukhrukidze A., Opitz C., Giannakoulas G., Karlocai K., Oddsson O., Gaine S., Menachemi D., Emdin M., Sooronbaev T., Rudzitis A., Gumbiene L., Lebrun F., Micallef J., Botnaru V., Oukerraj L., Andreassen A. K., Kurzyna M., Leite Baptista M. J. R., Coman I. M., Moiseeva O., Stefanovic B. S., Simkova I., Wikstrom G., Schwerzmann M., Srbinovska-Kostovska E., van Dijk A. P. J., Mahdhaoui A., Kaymaz C., Coghlan G., Sirenko Y., Galie, N, Humbert, M, Vachiery, J, Gibbs, S, Lang, I, Torbicki, A, Simonneau, G, Peacock, A, Vonk Noordegraaf, A, Beghetti, M, Ghofrani, A, Gomez Sanchez, M, Hansmann, G, Klepetko, W, Lancellotti, P, Matucci, M, Mcdonagh, T, Pierard, L, Trindade, P, Zompatori, M, Hoeper, M, Aboyans, V, Vaz Carneiro, A, Achenbach, S, Agewall, S, Allanore, Y, Asteggiano, R, Badano, L, Albert Barbera, J, Bouvaist, H, Bueno, H, Byrne, R, Carerj, S, Castro, G, Erol, C, Falk, V, Funck-Brentano, C, Gorenflo, M, Granton, J, Iung, B, Kiely, D, Kirchhof, P, Kjellstrom, B, Landmesser, U, Lekakis, J, Lionis, C, Lip, G, Orfanos, S, Park, M, Piepoli, M, Ponikowski, P, Revel, M, Rigau, D, Rosenkranz, S, Voller, H, Luis Zamorano, J, Myftiu, S, Bonderman, D, Firdovsi, I, Lazareva, I, De Pauw, M, Sokolovic, S, Velchev, V, Cikes, M, Moutiris, J, Jansa, P, Nielsen-Kudsk, J, Anton, L, Jaaskelainen, P, Bauer, F, Chukhrukidze, A, Opitz, C, Giannakoulas, G, Karlocai, K, Oddsson, O, Gaine, S, Menachemi, D, Emdin, M, Sooronbaev, T, Rudzitis, A, Gumbiene, L, Lebrun, F, Micallef, J, Botnaru, V, Oukerraj, L, Andreassen, A, Kurzyna, M, Leite Baptista, M, Coman, I, Moiseeva, O, Stefanovic, B, Simkova, I, Wikstrom, G, Schwerzmann, M, Srbinovska-Kostovska, E, van Dijk, A, Mahdhaoui, A, Kaymaz, C, Coghlan, G, and Sirenko, Y

Subjects
Endothelin receptor antagonist, Chronic thromboembolic pulmonary hypertension, Heart failure, Guideline, Prostacyclin analogue, Respiratory failure, Pulmonary arterial hypertension, Chronic thromboembolic pulmonary hypertension, Congenital heart disease, Connective tissue disease, Endothelin receptor antagonists, Guidelines, Heart failure, Left heart disease, Lung disease, Phosphodiesterase type 5 inhibitors, Prostacyclin analogues, Pulmonary arterial hypertension, Pulmonary hypertension, Respiratory failure, Pulmonary hypertension, Phosphodiesterase type 5 inhibitor, Left heart disease, Lung disease, Connective tissue disease, Congenital heart disease
Abstract

Document Reviewers: Victor Aboyans (CPG Review Coordinator) (France), Antonio Vaz Carneiro (CPG Review Coordinator) (Portugal), Stephan Achenbach (Germany), Stefan Agewall (Norway), Yannick Allanore (France), Riccardo Asteggiano (Italy), Luigi Paolo Badano (Italy), Joan Albert Barbera (Spain), Helene Bouvaist (France), Hector Bueno (Spain), Robert A. Byrne (Germany), Scipione Carerj (Italy), Graca Castro (Portugal), Cetin Erol (Turkey), Volkmar Falk (Germany), Christian Funck-Brentano (France), Matthias Gorenflo (Germany), John Granton (Canada), Bernard Iung (France), David G. Kiely (UK), Paulus Kirchhof (Germany/UK), Barbro Kjellstrom (Sweden), Ulf Landmesser (Switzerland), John Lekakis (Greece), Christos Lionis (Greece), Gregory Y. H. Lip (UK), Stylianos E. Orfanos (Greece), Myung H. Park (USA), Massimo F. Piepoli (Italy), Piotr Ponikowski (Poland), Marie-Pierre Revel (France), David Rigau (ERS methodologist) (Switzerland), Stephan Rosenkranz (Germany), Heinz Voller (Germany), and Jose Luis Zamorano (Spain)

Published
2016

42. P4534Reduced right ventricular contractile reserve in patients with systemic sclerosis and borderline pulmonary arterial pressures

Author

Marra, A M, primary, Nagel, C, additional, Benjamin, N, additional, Blank, N, additional, Cittadini, A, additional, Coghlan, G, additional, Distler, O, additional, Denton, C P, additional, Fiehn, C, additional, Egenlauf, B, additional, Xanthouli, P, additional, Hoeper, M M, additional, Lorenz, H M, additional, Bossone, E, additional, and Gruenig, E, additional

Published
2018
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44. Plasma metabolomics implicates modified transfer RNAs and altered bioenergetics in the outcomes of pulmonary arterial hypertension

Author

Rhodes, CJ, Ghataorhe, P, Wharton, J, Rue-Albrecht, KC, Hadinnapola, C, Watson, G, Bleda, M, Haimel, M, Coghlan, G, Corris, PA, Howard, LS, Kiely, DG, Peacock, AJ, Pepke-Zaba, J, Toshner, MR, Wort, SJ, Gibbs, JSR, Lawrie, A, Gräf, S, Morrell, NW, Wilkins, MR, Hadinnapola, Charaka [0000-0002-7794-3432], Haimel, Matthias [0000-0002-0320-0214], Toshner, Mark [0000-0002-3969-6143], Graf, Stefan [0000-0002-1315-8873], Morrell, Nicholas [0000-0001-5700-9792], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Hypertension, Pulmonary, Middle Aged, Prognosis, metabolomics, Young Adult, Treatment Outcome, RNA, Transfer, pulmonary circulation, Original Research Articles, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Humans, metabolome, Female, Energy Metabolism, metabolism, Aged
Abstract

Supplemental Digital Content is available in the text., Background: Pulmonary arterial hypertension (PAH) is a heterogeneous disorder with high mortality. Methods: We conducted a comprehensive study of plasma metabolites using ultraperformance liquid chromatography mass spectrometry to identify patients at high risk of early death, to identify patients who respond well to treatment, and to provide novel molecular insights into disease pathogenesis. Results: Fifty-three circulating metabolites distinguished well-phenotyped patients with idiopathic or heritable PAH (n=365) from healthy control subjects (n=121) after correction for multiple testing (P

Published
2016

45. Irish Society of Gastroenterology — Summer Meeting Held at Educational Centre, Althnagelvin Area Hospital, Londonderry on Friday 5th and Saturday 6th June, 1987

Author

Geraghty, J. G., Burke, P. E., McGovern, E., Shaw, K. M., Tobin, A., O’Leary, D., Dillon, M. E., O’Morain, C., Doyle, C. T., Brady, Caitriona, Gibney, M. J., Kelly, S. B., Wall, J., Panesar, K. J. S., O’Donohoe, M. K., Blake, A., Waldron, R. P., Dervan, P., Fitzpatrick, J. M., Cotter, P., Burke, G. J., Moran, K., McEntee, G., Jones, B., Duignan, J. P., Hone, R., O’Malley, E., Brennan, F., Whitehead, H., O’Connor, F. A., O’Dwyer, P. J., Martin, E. W., Kelly, S. B., Hershman, M. J., Habib, N. A., Williamson, R. C. N., Spencer, J., Wood, C. B., Kelly, Jacinta, Weir, D. G., Feighery, C., Doyle, C. T., Hanjavanit, C., Mulcahy, M. F., Courtney, M. G., Daly, P. A., Temperley, I. J., Keeling, P. W. N., Weir, D. G., Keating, J. J., Maxwell, W. J., Hogan, F. P., Keeling, P. W. N., McColl, Teresa, O’Leary, D., O’Morain, C. A., O’Connell, P. R., Horgan, P. G., Kirwan, W. O., O’Reilly, T., MacMathuna, P., Keeling, P. W. N., Feely, J., MacGowan, S. W., Bouchier-Hayes, D. J., Broe, P. J., Kennedy, N. P., Walsh, J. P., Maxwell, W. P., Hogan, F. P., Keeling, P. W. N., Coghlan, G., Gilligan, D., Humphries, H., McKenna, D., Dooley, C., Sweeney, E., Keane, C., O’Morain, C., O’Mahony, S., Whelton, M. J., Kearney, J., Keating, J., Kennedy, N., Keeling, P. W. N., Gibney, M. J., Deasy, J., Primrose, J., Holdsworth, P., Quirk, P., Dixon, M., Johnston, D., Healy, M., O’Connor, M. P., Weir, D. G., Keane, C. T., O’Moore, R. R., Nally, C. V., McMullin, L. J., Cianachan, A. S., Scott, G. W., O’Connor, M. P., Healy, M., Keane, C. T., O’Moore, R. R., Weir, D. G., Walsh, T. N., O’Malley, V. P., Given, H. F., O’Connor, H. J., Burrows, F. G., Neuberger, J., Elias, E., Kennedy, M. M., Hayes, M., Gibney, M. J., Keeling, P. W. N., Collins, A. -M., O’Connor, M. P., Weir, D. G., Gibney, M., Keeling, P., O’Sullivan, G., Kent, P., Gillen, P., Hennessy, T. P. J., Maxwell, W. J., Hogan, F. P., Keating, J. J., Keeling, P. W. N., Deasy, J. M., Lavelle, J. P., Clery, A. P., Coghlan, G., Gilligan, D., Humphries, H., McKenna, D., Sweeney, E., Keane, C., and O’Morain, C.

Published
1988
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47. S108 Genome-wide association study in chronic thromboembolic pulmonary hypertension reveals new insights into aetiology

Author

Newnham, M, primary, Toshner, M, additional, Bleda, M, additional, Auger, WR, additional, Barberà, JA, additional, Bogaard, HJ, additional, Cannon, J, additional, Coghlan, G, additional, Corris, PA, additional, Delcroix, M, additional, Dunning, J, additional, Elding, H, additional, Gibbs, S, additional, Hadinnapola, C, additional, Jenkins, D, additional, Kiely, D, additional, Lang, I, additional, Maher, E, additional, Ng, C, additional, Peacock, A, additional, Screaton, N, additional, Sheares, K, additional, Simpson, M, additional, Soranzo, N, additional, Taboada, D, additional, Trembath, R, additional, Tsui, S, additional, Wilkins, MR, additional, Wort, SJ, additional, Gräf, S, additional, Pepke-Zaba, J, additional, and Morrell, NW, additional

Published
2017
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49. OP0034 Factors associated with disease progression in early-diagnosed pulmonary arterial hypertension associated with systemic sclerosis: longitudinal data from the detect cohort

Author

Mihai, C, primary, Antic, M, additional, Dobrota, R, additional, Bondermann, D, additional, Chadha-Boreham, H, additional, Coghlan, G, additional, Denton, CP, additional, Doelberg, M, additional, Grünig, E, additional, Khanna, D, additional, McLaughlin, VV, additional, Müller-Ladner, U, additional, Pope, JE, additional, Rosenberg, DM, additional, Seibold, JR, additional, Vonk, MC, additional, and Distler, O, additional

Published
2017
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