日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

NCOR1 和 NCOR2 功能丧失会通过新的 GABAergic 下丘脑-CA3 投射损害记忆

Wenjun Zhou, Yanlin He, Atteeq U Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying-Wooi Wan, Basil Paul, Chuhan Wang, Yingyun Gong, Wenxian Zhou, Hao Liu, John Dean, Emmanuel Scalais, Mary O'Driscoll, Jenny E V Morton; DDD study; Xinguo Hou, Qi Wu, Qingchun Tong, Zhandon

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

SMARCD1 基因突变导致的综合征性神经发育障碍,SMARCD1 是果蝇中情境依赖性神经元基因调控所需的核心 SWI/SNF 亚基

Kevin C J Nixon, Justine Rousseau, Max H Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake; DDD Study; Diana Baralle, Shane McKee, Kosuke Izumi, Alyssa L Ritter, Solveig Heide, Delphine Héron, Christel Depienne, Hannah Titheradge, Jamie M Kramer, Philippe M

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

DHX30基因的新生错义突变会损害整体翻译并导致神经发育障碍

Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R F; Harel, Tamar; Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P A; Gerkes, Erica H; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M; Rosenfeld, Jill A; Yang, Yaping; Posey, Jennifer E; Immken, LaDonna; Oundjian, Nelly; Helbig, Katherine L; Meeks, Naomi; Zegar, Kelsey; Morton, Jenny; The Ddd Study; Schieving, Jolanda H; Claasen, Ana; Huentelman, Matthew; Narayanan, Vinodh; Ramsey, Keri; Brunner, Han G; Elpeleg, Orly; Mercier, Sandra; Bézieau, Stéphane; Kubisch, Christian; Kleefstra, Tjitske; Kindler, Stefan; Lupski, James R; Kreienkamp, Hans-Jürgen

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

PURA综合征:32例患者的临床特征描述和基因型-表型研究及已发表文献综述

Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; Ddd Study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

反复发生的新生突变扰乱了 RAB11B 的 GTP/GDP 结合位点,导致智力障碍和独特的大脑表型

Ideke J C Lamers, Margot R F Reijnders, Hanka Venselaar, Alison Kraus; DDD Study; Sandra Jansen, Bert B A de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J F Letteboer, Sylvia E C van Beersum, Simone Dusseljee, Han G Brunner,