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

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Autor: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)

Abstract Background Biallelic variants in OGDHL, encoding part of the α-ketoglutarate dehydrogenase complex, have been associated with highly heterogeneous neurological and neurodevelopmental disorders. However, the validity of this association rema

Externí odkaz: https://doaj.org/article/f946c3f7f70a4b7caee99c8a98b2e0b2

Selective MCL-1 inhibitor ABBV-467 is efficacious in tumor models but is associated with cardiac troponin increases in patients

Autor: Junichiro Yuda, Christine Will, Darren C. Phillips, Linu Abraham, Cory Alvey, Abraham Avigdor, Wayne Buck, Lauren Besenhofer, Erwin Boghaert, Dong Cheng, Dan Cojocari, Kelly Doyle, T. Matthew Hansen, Kevin Huang, Eric F. Johnson, Andrew S. Judd, Russell A. Judge, John C. Kalvass, Aaron Kunzer, Lloyd T. Lam, Rachel Li, Ruth L. Martin, Anthony Mastracchio, Mike Mitten, Adam Petrich, Jin Wang, James E. Ward, Haichao Zhang, Xilu Wang, Johannes E. Wolff, Katherine M. Bell-McGuinn, Andrew J. Souers

Publikováno v: Communications Medicine, Vol 3, Iss 1, Pp 1-14 (2023)

Abstract Background MCL-1 is a prosurvival B-cell lymphoma 2 family protein that plays a critical role in tumor maintenance and survival and can act as a resistance factor to multiple anticancer therapies. Herein, we describe the generation and chara

Externí odkaz: https://doaj.org/article/a09a2953c50e4da8ad9915dfa149ffac

Grasp-squeeze adaptation to changes in object compliance leads to dynamic beta-band communication between primary somatosensory and motor cortices

Autor: Huy Cu, Laurie Lynch, Kevin Huang, Wilson Truccolo, Arto Nurmikko

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)

Abstract In asking the question of how the brain adapts to changes in the softness of manipulated objects, we studied dynamic communication between the primary sensory and motor cortical areas when nonhuman primates grasp and squeeze an elastically d

Externí odkaz: https://doaj.org/article/1ad0cecdb0f444619440ab9b7aef71b5

An integrative model of information processing and contextual factors on exploring information systems outsourcing success.

Autor: Ying Chieh Liu¹ allanliu@ncut.edu.tw, Chi Ming Kevin Huang² chiming_huang@u.nus.edu, Yuh-Shihng Chang¹ eric_chang@ncut.edu.tw, Hsin-Mei Lin³ hmlin@ncnu.edu.tw, Ping-Liang Chen^4,5 liang19766@gmail.com

Publikováno v: Asia Pacific Management Review. Sep2023, Vol. 28 Issue 3, p327-335. 9p.