Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and identify likely causal variants in GDF2, ATP13A3, AQ...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/cb3171b4e79940aa9ab812b5a9ce621a
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spelling	oai:doaj.org-article:cb3171b4e79940aa9ab812b5a9ce621a2021-12-02T14:38:47ZIdentification of rare sequence variation underlying heritable pulmonary arterial hypertension10.1038/s41467-018-03672-42041-1723https://doaj.org/article/cb3171b4e79940aa9ab812b5a9ce621a2018-04-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-03672-4https://doaj.org/toc/2041-1723Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and identify likely causal variants in GDF2, ATP13A3, AQP1 and SOX17.Stefan GräfMatthias HaimelMarta BledaCharaka HadinnapolaLaura SouthgateWei LiJoshua HodgsonBin LiuRichard M. SalmonMark SouthwoodRajiv D. MachadoJennifer M. MartinCarmen M. TreacyKatherine YatesLouise C. DaughertyOlga ShamardinaDeborah WhitehornSimon HoldenMicheala AldredHarm J. BogaardColin ChurchGerry CoghlanRobin CondliffePaul A. CorrisCesare DanesinoMélanie EyriesHenning GallStefano GhioHossein-Ardeschir GhofraniJ. Simon R. GibbsBarbara GirerdArjan C. HouwelingLuke HowardMarc HumbertDavid G. KielyGabor KovacsRobert V. MacKenzie RossShahin MoledinaDavid MontaniMichael NewnhamAndrea OlschewskiHorst OlschewskiAndrew J. PeacockJoanna Pepke-ZabaInga ProkopenkoChristopher J. RhodesLaura ScelsiWerner SeegerFlorent SoubrierDan F. SteinJay SuntharalingamEmilia M. SwietlikMark R. ToshnerDavid A. van HeelAnton Vonk NoordegraafQuinten WaisfiszJohn WhartonStephen J. WortWillem H. OuwehandNicole SoranzoAllan LawriePaul D. UptonMartin R. WilkinsRichard C. TrembathNicholas W. MorrellNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
description	Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and identify likely causal variants in GDF2, ATP13A3, AQP1 and SOX17.
format	article
author	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
author_facet	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
author_sort	Stefan Gräf
title	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
title_short	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
title_full	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
title_fullStr	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
title_full_unstemmed	Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
title_sort	identification of rare sequence variation underlying heritable pulmonary arterial hypertension
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/cb3171b4e79940aa9ab812b5a9ce621a
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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

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