Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

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

doi:10.1038/s41467-018-03672-4

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Shared by NobleBlocks on Apr 12, 2018 • 12:00 AM UTC

Authors:

Stefan Gräf

Matthias Haimel

Marta Bleda

Abstract

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 ...

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