Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Autor: Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Shen, Yufeng, Gräf, Stefan, Nichols, William C., Chung, Wendy K., Hirsch, Russel, White, R. James, Simon, Marc, Badesch, David, Rosenzweig, Erika, Burger, Charles, Chakinala, Murali, Thenappan, Thenappan, Elliott, Greg, Simms, Robert, Farber, Harrison, Frantz, Robert, Elwing, Jean, Hill, Nicholas, Ivy, Dunbar, Klinger, James, Nathan, Steven, Oudiz, Ronald, Robbins, Ivan, Schilz, Robert, Fortin, Terry, Wilt, Jeffrey, Yung, Delphine, Austin, Eric, Ahmad, Ferhaan, Bhatt, Nitin, Lahm, Tim, Frost, Adaani, Safdar, Zeenat, Rehman, Zia, Walter, Robert, Torres, Fernando, Bakshi, Sahil, Archer, Stephen, Argula, Rahul, Barnett, Christopher, Benza, Raymond, Desai, Ankit, Maddipati, Veeranna, Bogaard, Harm J., Church, Colin, Coghlin, Gerry, Condliffe, Robin, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Penkett, Christopher J., Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Swift, Andrew J., Toshner, Mark R., Noordegraaf, Anton Vonk, Wharton, John, Wild, Jim, Wort, Stephen John

Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e615a78be163f9ca786b8d10056b9f7a

Genetic determinants of risk and survival in pulmonary arterial hypertension

Autor: Rhodes, Christopher J., Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W., Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B., Karnes, Jason H., Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Ahmad, Ferhaan, Amouyel, Philippe, Stephen L., Archer, Argula, Rahul, Eric D., Austin, Badesch, David, Bakshi, Sahil, Barnett, Christopher F., Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J., Burger, Charles D., Chakinala, Murali M., Church, Colin, Coghlan, John G., Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Debette, Stéphanie, Elliott, C. Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P., Frost, Adaani, Garcia, Joe G.N., Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Simon, J., Gibbs, R., Harley, John B., He, Hua, Hill, Nicholas S., Hirsch, Russel, Houweling, Arjan C., Howard, Luke S., Ivy, Dunbar, Kiely, David G., Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Lutz, Katie, Machado, Rajiv D., MacKenzie Ross, Robert V., Marsolo, Keith, Martin, Lisa J., Moledina, Shahin, Montani, David, Nathan, Steven D., Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J., Ouwehand, Willem H., Peacock, Andrew J., Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan M., Roden, Dan M., Rosenzweig, Erika B., Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M., Simms, Robert W., Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Swietlik, Emilia, Tang, Haiyang, Tchourbanov, Alexander Y., Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R., Treacy, Carmen M., Noordegraaf, Anton Vonk, Waisfisz, Quinten, Walsworth, Anna K., Walter, Robert E, Wharton, John, White, R. James, Wilt, Jeffrey, Wort, Stephen J., Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C., Trembath, Richard C., Desai, Ankit A., Morrell, Nicholas W., Wilkins, Martin R.

BackgroundPulmonary arterial hypertension (PAH) is a rare disorder leading to premature death. Rare genetic variants contribute to disease etiology but the contribution of common genetic variation to disease risk and outcome remains poorly characteri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be038ddf6e6919ff713dc9dc62f637a
https://doi.org/10.1101/317164

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