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

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

新生DHDDS变异会导致伴有肌阵挛的神经发育和神经退行性疾病

Galosi, Serena; Edani, Ban H; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Daniëlle G M; Ellis, Colin A; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Barañano, Kristin W; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noëlle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E; Venkateswaran, Sunita; Wheeler, Patricia G; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C; Lefeber, Dirk J; Tartaglia, Marco; Hamdan, Fadi F; Grabińska, Kariona A; Leuzzi, Vincenzo

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

AP2M1基因中一种复发性错义变异会损害网格蛋白介导的内吞作用,并导致发育性和癫痫性脑病。

Ingo Helbig ,Tania Lopez-Hernandez ,Oded Shor ,Peter Galer ,Shiva Ganesan ,Manuela Pendziwiat ,Annika Rademacher ,Colin A Ellis ,Nadja Hümpfer ,Niklas Schwarz ,Simone Seiffert ,Joseph Peeden ,Joseph Shen ,Katalin Štěrbová ,Trine Bjørg Hammer ,Rikke S Møller ,Deepali N Shinde ,Sha Tang ,Lacey Smith ,Annapurna Poduri ,Roland Krause ,Felix Benninger ,Katherine L Helbig ,Volker Haucke ,Yvonne G Weber

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

AP2M1基因中一种复发性错义变异会损害网格蛋白介导的内吞作用,并导致发育性和癫痫性脑病。

Ingo Helbig,Tania Lopez-Hernandez,Oded Shor,Peter Galer,Shiva Ganesan,Manuela Pendziwiat,Annika Rademacher,Colin A Ellis,Nadja Hümpfer,Niklas Schwarz,Simone Seiffert,Joseph Peeden,Joseph Shen,Katalin Štěrbová,Trine Bjørg Hammer,Rikke S Møller,Deepali N Shinde,Sha Tang,Lacey Smith,Annapurna Poduri,Roland Krause,Felix Benninger,Katherine L Helbig,Volker Haucke,Yvonne G Weber  ; EuroEPINOMICS-RES Consortium; GRIN Consortium

Autonomic responses to blast overpressure can be elicited by exclusively exposing the ear in rats

通过单独暴露大鼠的耳朵,可以诱发其对爆炸超压的自主神经反应。

Sandlin, David S; Yu, Yue; Huang, Jun; Zhang, Chunming; Arteaga, Alberto A; Lippincott, John K; Peeden, Erin O H; Guyton, Ryan R; Chen, Lan; Beneke, Laura L S; Allison, Jerome C; Zhu, Hong; Zhou, Wu

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3

ADAMTS3 活性丧失导致 Hennekam 淋巴管扩张-淋巴水肿综合征 3

Pascal Brouillard, Laura Dupont, Raphael Helaers, Richard Coulie, George E Tiller, Joseph Peeden, Alain Colige, Miikka Vikkula