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

Telemetry without collars: performance of fur- and ear-mounted satellite tags for evaluating the movement and behaviour of polar bears

Autor: Tyler R. Ross, Gregory W. Thiemann, B. J. Kirschhoffer, Jon Kirschhoffer, Geoff York, Andrew E. Derocher, Amy C. Johnson, Nicholas J. Lunn, David McGeachy, Vicki Trim, Joseph M. Northrup

Publikováno v: Animal Biotelemetry, Vol 12, Iss 1, Pp 1-15 (2024)

Abstract The study of animal movement provides insights into underlying ecological processes and informs analyses of behaviour and resource use, which have implications for species management and conservation. The tools used to study animal movement

Externí odkaz: https://doaj.org/article/a286913a063549bd92ad10a5aa0f9c15

A model of lymphocryptovirus-associated post-transplant lymphoproliferative disorder in immunosuppressed Mauritian cynomolgus macaques.

Autor: Helen L Wu, Whitney C Weber, Courtney M Waytashek, Carla D Boyle, Jason S Reed, Katherine B Bateman, Hannah K Fisher, Yan Chen, Kimberly Armantrout, Tonya Swanson, Christine Shriver-Munsch, Mina Northrup, Miranda Fischer, Sreya Biswas, John Templon, Angela Panoskaltsis-Mortari, Benjamin J Burwitz, Amanda L Johnson, Lois Colgin, Anne D Lewis, Jeremy V Smedley, Michael K Axthelm, Rebecca Skalsky, Gabrielle Meyers, Richard T Maziarz, Erik Mittra, Melissa Berg, Jeffrey J Stanton, Jonah B Sacha

Publikováno v: PLoS Pathogens, Vol 20, Iss 11, p e1012644 (2024)

Immunocompromised individuals are at risk for developing lymphocryptovirus-associated lymphoproliferative diseases, such as Epstein Barr virus (EBV)-associated B cell lymphomas and post-transplant lymphoproliferative disorder (PTLD). We previously re

Externí odkaz: https://doaj.org/article/e9b7c4d3cacf41f4b7d8c3b2d116c58e

Transferable lessons for care provided to children with intellectual and developmental disabilities based on an analysis of facilitators and barriers to SARS-CoV-2 testing

Autor: George S. Gotto, Jeriel Bohall, Rachel Northrup, Cheryl Lyn Errichetti, Danielle Chiang, Maureen van Stone, Erin Jones, Megan Meck, Luther Kalb

Publikováno v: Frontiers in Pediatrics, Vol 12 (2024)

IntroductionThe purpose of this article is to report on the lessons learned from parents and caregivers of school-age children with intellectual and developmental disabilities (IDD) in Missouri and Maryland regarding the facilitators and barriers to

Externí odkaz: https://doaj.org/article/aabf2ed4f73e4fe5a72c43384daa0f7f

Diagnostic efficacy and clinical impact of image-guided core needle biopsy of suspected vertebral osteomyelitis

Autor: Winston L. Winkler, Ige A. George, Sumanth Gandra, Jonathan C. Baker, Anderanik Tomasian, Benjamin Northrup, Theodore L. Vander Velde, Travis J. Hillen, Chongliang Luo, Resten Imaoka, Gino M. Dettorre, Jack W. Jennings

Publikováno v: International Journal of Infectious Diseases, Vol 144, Iss , Pp 107027- (2024)

Objectives: The diagnostic yield and clinical impact of image-guided core needle biopsy (ICNB) of suspected vertebral osteomyelitis in adults is heterogenous in published studies owing to small sample sizes, indicating the need for large cohort studi

Externí odkaz: https://doaj.org/article/84c577f1a3e44c49912b705fecc1d11a