Publications

Publication: Nature Communications

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


Summary:

Pulmonary Arterial Hypertension (PAH) is a fatal lung disease and causes the walls of the arteries become thick and stiff, narrowing the space for blood to pass through and increasing blood pressure then leading to heart failure.

The disease kills 50% of those affected within five years, but little was known about what caused the condition in some people. Now experts say they have discovered five genes that cause the illness and could pave the way for more treatments.

Scientists carried out the largest ever genetic study of the disease by analysing the genomes – the unique sequence of a person’s DNA – of more than 1,000 PAH patients for whom the cause of the illness was unknown.

They found that mutations in five genes were responsible for causing the illness in these people, including in four genes that were not previously known to be involved in the disease. In people with the condition these genes fail to effectively produce the proteins that are required for the structure, function and regulation of the body’s tissues, researchers found.

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Publication: Circ Cardiovasc Imaging

Huang Y, Teng Z, Elkhawad M, Tarkin JM, Joshi N, Boyle JR, Buscombe JR, Fryer TD, Zhang Y, Park AY, Wilkinson IB, Newby DE, Gillard JH, Rudd JH. 2016 Nov;9(11). pii: e004656. PMID: 27903534

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Publication: Nat Commun

Irkle A, Vesey AT, Lewis DY, Skepper JN, Bird JL, Dweck MR, Joshi FR, Gallagher FA, Warburton EA, Bennett MR, Brindle KM, Newby DE, Rudd JH, Davenport AP. 2015 Jul 7;6:7495. doi: 10.1038/ncomms8495. PMID: 26151378

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Publication: Circ Cardiovasc Imaging

Brown AJ, Obaid DR, Costopoulos C, Parker RA, Calvert PA, Teng Z, Hoole SP, West NE, Goddard M, Bennett MR. 2015 Oct;8(10):e003487. doi: 10.1161/CIRCIMAGING.115.003487. PMID: 26429760

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Publication: Circ Cardiovasc Imaging

Brown AJ, Teng Z, Calvert PA, Rajani NK, Hennessy O, Nerlekar N, Obaid DR, Costopoulos C, Huang Y, Hoole SP, Goddard M, West NE, Gillard JH, Bennett MR. 2016 Jun;9(6). pii: e004172. doi: 10.1161/CIRCIMAGING.115.004172. PMID: 27307548

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Publication: Thorax

Loutsios C, Farahi N, Simmonds R, Cullum I, Gillett D, Solanki C, Solanki K, Buscombe J, Condliffe AM, Peters AM, Chilvers ER. 2015 Nov;70(11):1085-6. doi: 10.1136/thoraxjnl-2015-207156. PMID: 26108571

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Publication: Am J Respir Crit Care Med

Juss JK, House D, Amour A, Begg M, Herre J, Storisteanu DM, Hoenderdos K, Bradley G, Lennon M, Summers C, Hessel EM, Condliffe A, Chilvers ER. 2016 Oct 15;194(8):961-973. PMID: 27064380

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Publication: Nat Med.

Long L, Ormiston ML, Yang X, Southwood M, Gräf S, Machado RD, Mueller M, Kinzel B, Yung LM, Wilkinson JM, Moore SD, Drake KM, Aldred MA, Yu PB, Upton PD, Morrell NW. 2015 Jul;21(7):777-85. doi: 10.1038/nm.3877. PMID: 26076038

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Publication: Lancet Respir Med

Evans JD, Girerd B, Montani D, Wang XJ, Galiè N, Austin ED, Elliott G, Asano K, Grünig E, Yan Y, Jing ZC, Manes A, Palazzini M, Wheeler LA, Nakayama I, Satoh T, Eichstaedt C, Hinderhofer K, Wolf M, Rosenzweig EB, Chung WK, Soubrier F, Simonneau G, Sitbon O, Gräf S, Kaptoge S, Di Angelantonio E, Humbert M, Morrell NW. 2016 Feb;4(2):129-37. doi: 10.1016/S2213-2600(15)00544-5. PMID: 26795434

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Publication: Proc Natl Acad Sci U S A

Cowburn AS, Crosby A, Macias D, Branco C, Colaço RD, Southwood M, Toshner M, Crotty Alexander LE, Morrell NW, Chilvers ER, Johnson RS. 2016 Aug 2;113(31):8801-6. doi: 10.1073/pnas.1602978113.

PMID: 27432976

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Publication:

Hurst LA, Dunmore BJ, Long L, Crosby A, Al-Lamki R, Deighton J, Southwood M, Yang X, Nikolic MZ, Herrera B, Inman GJ, Bradley JR, Rana AA, Upton PD, Morrell NW.

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