Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Autor: Jeanne L Theis, Georg Vogler, Maria A Missinato, Xing Li, Tanja Nielsen, Xin-Xin I Zeng, Almudena Martinez-Fernandez, Stanley M Walls, Anaïs Kervadec, James N Kezos, Katja Birker, Jared M Evans, Megan M O'Byrne, Zachary C Fogarty, André Terzic, Paul Grossfeld, Karen Ocorr, Timothy J Nelson, Timothy M Olson, Alexandre R Colas, Rolf Bodmer

Publikováno v: eLife, Vol 9 (2020)

Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-g

Externí odkaz: https://doaj.org/article/7b02a3ed48a047c4bd8549ffe623c1c1

Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection

Autor: David Adlam, Timothy M. Olson, Nicolas Combaret, Jason C. Kovacic, Siiri E. Iismaa, Abtehale Al-Hussaini, Megan M. O'Byrne, Sara Bouajila, Adrien Georges, Ketan Mishra, Peter S. Braund, Valentina d’Escamard, Siying Huang, Marios Margaritis, Christopher P. Nelson, Mariza de Andrade, Daniella Kadian-Dodov, Catherine A. Welch, Stephani Mazurkiewicz, Xavier Jeunemaitre, Claire Mei Yi Wong, Eleni Giannoulatou, Michael Sweeting, David Muller, Alice Wood, Lucy McGrath-Cadell, Diane Fatkin, Sally L. Dunwoodie, Richard Harvey, Cameron Holloway, Jean-Philippe Empana, Xavier Jouven, Jeffrey W. Olin, Rajiv Gulati, Marysia S. Tweet, Sharonne N. Hayes, Nilesh J. Samani, Robert M. Graham, Pascal Motreff, Nabila Bouatia-Naji, Loïc Belle, Patrick Dupouy, Pierre Barnay, Nicolas Meneveau, Martine Gilard, Gilles Rioufol, Grégoire Range, Philippe Brunel, Nicolas Delarche, Emmanuelle Filippi, Louis Le Bivic, Brahim Harbaoui, Hakim Benamer, Guillaume Cayla, Olivier Varenne, Stephane Peggy Manzo-Silberman, Johanne Silvain, Christian Spaulding, Christophe Caussin, Edouard Gerbaud, Yann Valy, René Koning, Thibault Lhermusier, Stanislas Champin, Emmanuel Salengro, Arnaud Fluttaz, Amer Zabalawi, Yves Cottin, Emmanuel Teiger, Christophe Saint-Etienne, Grégory Ducrocq, Stéphanie Marliere, Emmanuel Boiffard, Pierre Aubry, Jean Louis Georges, Didier Bresson, Fabien De Poli, Gaëtan Karrillon, Vincent Roule, Laurent Bali, Mathieu Valla, Antoine Gerbay, David Houpe, Olivier Dubreuil, Arsène Monnier, Norbert Mayaud, Aurélie Manchuelle, Philippe Commeau, Marc Bedossa, Majid Nikpay, Anuj Goel, Hong-Hee Won, Leanne M. Hall, Christina Willenborg, Stavroula Kanoni, Danish Saleheen, Theodosios Kyriakou, Jemma C. Hopewell, Thomas R. Webb, Lingyao Zeng, Abbas Dehghan, Maris Alver, Sebastian M. Armasu, Kirsi Auro, Andrew Bjonnes, Daniel I. Chasman, Shufeng Chen, Ian Ford, Nora Franceschini, Christian Gieger, Christopher Grace, Stefan Gustafsson, Jie Huang, Shih-Jen Hwang, Yun Kyoung Kim, Marcus E. Kleber, King Wai Lau, Xiangfeng Lu, Yingchang Lu, Leo P. Lyytikäinen, Evelin Mihailov, Alanna Morrison, Natalia Pervjakova, Liming Qu, Lynda M. Rose, Elias Salfati, Richa Saxena, Markus Scholz, Albert V. Smith, Emmi Tikkanen, Andre Uitterlinden, Xueli Yang, Weihua Zhang, Wei Zhao, Paul S. de Vries, Natalie R. van Zuydam, Sonia S. Anand, Lars Bertram, Frank Beutner, George Dedoussis, Philippe Frossard, Dominique Gauguier, Alison H. Goodall, Omri Gottesman, Marc Haber, Bok-Ghee Han, Jianfeng Huang, Shapour Jalilzadeh, Thorsten Kessler, Inke R. König, Lars Lannfelt, Wolfgang Lieb, Lars Lind, Cecilia M. Lindgren, Maisa Lokki, Patrik K. Magnusson, Nadeem H. Mallick, Narinder Mehra, Thomas Meitinger, Fazal-ur-Rehman Memon, Andrew P. Morris, Markku S. Nieminen, Nancy L. Pedersen, Annette Peters, Loukianos S. Rallidis, Asif Rasheed, Maria Samuel, Svati H. Shah, Juha Sinisalo, Kathleen E. Stirrups, Stella Trompet, Laiyuan Wang, Khan S. Zaman, Diego Ardissino, Eric Boerwinkle, Ingrid B. Borecki, Erwin P. Bottinger, Julie E. Buring, John C. Chambers, Rory Collins, L Adrienne Cupples, John Danesh, Ilja Demuth, Roberto Elosua, Stephen E. Epstein, Tõnu Esko, Mary F. Feitosa, Oscar H. Franco, Maria Grazia Franzosi, Christopher B. Granger, Dongfeng Gu, Vilmundur Gudnason, Alistair S. Hall, Anders Hamsten, Tamara B. Harris, Stanley L. Hazen, Christian Hengstenberg, Albert Hofman, Erik Ingelsson, Carlos Iribarren, J Wouter Jukema, Pekka J. Karhunen, Bong-Jo Kim, Jaspal S. Kooner, Iftikhar J. Kullo, Terho Lehtimäki, Ruth J. Loos, Olle Melander, Andres Metspalu, Winfried März, Colin N. Palmer, Markus Perola, Thomas Quertermous, Daniel J. Rader, Paul M. Ridker, Samuli Ripatti, Robert Roberts, Veikko Salomaa, Dharambir K. Sanghera, Stephen M. Schwartz, Udo Seedorf, Alexandre F. Stewart, David J. Stott, Joachim Thiery, Pierre A. Zalloua, Christopher J. O'Donnell, Muredach P. Reilly, Themistocles L. Assimes, John R. Thompson, Jeanette Erdmann, Robert Clarke, Hugh Watkins, Sekar Kathiresan, Ruth McPherson, Panos Deloukas, Heribert Schunkert, Martin Farrall

Publikováno v: Journal of the American College of Cardiology
Journal of the American College of Cardiology, Elsevier, 2019, 73 (1), pp.58-66. ⟨10.1016/j.jacc.2018.09.085⟩

Background: \ud Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndromes (ACS) afflicting predominantly younger to middle-aged women. Observational studies have reported a high prevalence of extrac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dadef6515e5a6f0d5cee60ad6cf2846
https://pure.eur.nl/en/publications/e68967ea-374a-444c-bd31-5a9e71f42f30

Author response: Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Autor: Paul Grossfeld, Maria A. Missinato, Megan M. O’Byrne, Almudena Martinez-Fernandez, Katja Birker, Jared M. Evans, James N. Kezos, Anaïs Kervadec, Rolf Bodmer, Georg Vogler, Timothy J. Nelson, Jeanne L. Theis, Zeng Xi, Zachary C. Fogarty, Timothy M. Olson, Karen Ocorr, Tanja Nielsen, Alexandre R. Colas, Andre Terzic, Xing Li, Stanley M. Walls

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::15b37de805b655e0c862c0628baae62f
https://doi.org/10.7554/elife.59554.sa2

Trigeminal neuralgia and neuropathy in large sporadic vestibular schwannomas

Autor: Megan M. O’Byrne, Matthew L. Carlson, Brian A. Neff, Jamie J. Van Gompel, Michael J. Link, Colin L. W. Driscoll

Publikováno v: Journal of Neurosurgery. 127:992-999

OBJECTIVEThe aim of this study was to evaluate the incidence, presentation, and treatment outcomes of trigeminal nerve–mediated symptoms secondary to large vestibular schwannomas (VSs) with trigeminal nerve contact. Specifically, the symptomatic re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91306d61c0891476bbfbc0444e27bf56
https://doi.org/10.3171/2016.9.jns16515

Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection

Autor: Megan M. O’Byrne, Rajiv Gulati, Jared M. Evans, Marysia S. Tweet, Timothy M. Olson, Sharonne N. Hayes, Jeanne L. Theis, Tamiel N. Turley, Rhianna S. Sundsbak

Publikováno v: Circulation: Genomic and Precision Medicine. 12

Background: Spontaneous coronary artery dissection (SCAD) is an uncommon idiopathic disorder predominantly affecting young, otherwise healthy women. Rare familial cases reveal a genetic predisposition to disease. The aim of this study was to identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820f59affb383509826f866046e6aeb5
https://doi.org/10.1161/circgen.118.002437