Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Autor: Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a

Externí odkaz: https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770

Impact of wastewater reuse on contaminants of emerging concern in an effluent-dominated river

Autor: Jordyn M. Wolfand, Anneliese Sytsma, Kristine T. Taniguchi-Quan, Eric D. Stein, Terri S. Hogue

Publikováno v: Frontiers in Environmental Science, Vol 11 (2023)

Contaminants of emerging concern such as pharmaceuticals, personal care products, per- and polyfluoroalkyl substances, and plasticizers, are ubiquitous in effluent-dominated rivers and have potential adverse effects on humans and aquatic life. Demand

Externí odkaz: https://doaj.org/article/a5fecc2db03c4d6293345258824d6c76

Evaluating hydrologic impact from concurrent insect and fire disturbances

Autor: Katie E. Schneider, Ashley J. Rust, Jackie Randell, Terri S. Hogue

Publikováno v: Journal of Hydrology: Regional Studies, Vol 44, Iss , Pp 101211- (2022)

Study Region: Rio Grande Headwaters Study Focus: In the western US wildfires are increasing in duration and frequency, insect inducted forest mortality is widespread, and both wildfires and forest mortality are exacerbated by drought. These forest di

Externí odkaz: https://doaj.org/article/c3d1ccbf75a34abaae7e6eca8b67058e

Balancing water reuse and ecological support goals in an effluent dominated river

Autor: Jordyn M. Wolfand, Kristine T. Taniguchi-Quan, Reza Abdi, Elizabeth Gallo, Katie Irving, Daniel Philippus, Jennifer B. Rogers, Eric D. Stein, Terri S. Hogue

Publikováno v: Journal of Hydrology X, Vol 15, Iss , Pp 100124- (2022)

Flows in urban rivers are increasingly managed to support water supply needs while also protecting and/or restoring instream ecological functions, goals that are often in opposition to each other. Effluent-dominated rivers (i.e., rivers that consist

Externí odkaz: https://doaj.org/article/909d36e5f51a446b9adc30b3a40a2a2c

Calibration of a hydrologic model in data-scarce Alaska using satellite and other gridded products

Autor: Katie E. Schneider, Terri S. Hogue

Publikováno v: Journal of Hydrology: Regional Studies, Vol 39, Iss , Pp 100979- (2022)

Study Region: Alaska and hydrologically connected portions of Canada Study Focus: Rugged terrain and harsh conditions make observational hydroclimatic data, especially runoff data, extremely limited across most of Alaska. Consequently, many previous

Externí odkaz: https://doaj.org/article/dd1dbbc0d79846cba814e3c6d3fb8df1