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

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

CACNA1A 单倍体不足会导致突触功能降低和内在兴奋性增加

Hommersom Marina P, Doorn Nina, Puvogel Sofía, Lewerissa Elly I, Mordelt Annika, Ciptasari Ummi, Kampshoff Franziska, Dillen Lieke, van Beusekom Ellen, Oudakker Astrid, Kogo Naoki, Dolga Amalia M, Frega Monica, Schubert Dirk, van de Warrenburg Bart P C, Nadif Kasri Nael, van Bokhoven Hans

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

靶向 AASS 可减轻神经毒性,并改善吡哆醇依赖性癫痫星形胶质细胞模型中的线粒体功能。

Schuurmans Imke M E, Engelke Udo, Abedrabbo Muna, Puvogel Sofía, Mijdam Rachel, Scholten Gijs-Jan, van Katwijk Sara B, Oudakker Astrid, Al-Shekaili Hilal H, Lefeber Dirk J, Leavitt Blair R, van Karnebeek Clara D M, Nadif Kasri Nael, Garanto Alejandro

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks

钙黏蛋白-13是人类干细胞衍生神经元网络中GABA能调节的关键调节因子

Mossink, Britt; van Rhijn, Jon-Ruben; Wang, Shan; Linda, Katrin; Vitale, Maria R; Zöller, Johanna E M; van Hugte, Eline J H; Bak, Jitske; Verboven, Anouk H A; Selten, Martijn; Negwer, Moritz; Latour, Brooke L; van der Werf, Ilse; Keller, Jason M; Klein Gunnewiek, Teun M; Schoenmaker, Chantal; Oudakker, Astrid; Anania, Alessia; Jansen, Sophie; Lesch, Klaus-Peter; Frega, Monica; van Bokhoven, Hans; Schubert, Dirk; Nadif Kasri, Nael

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

足突衔接蛋白TKS4(SH3PXD2B)的破坏会导致弗兰克-特哈尔综合征的骨骼发育不良、眼部和心脏异常。

Iqbal, Zafar; Cejudo-Martin, Pilar; de Brouwer, Arjan; van der Zwaag, Bert; Ruiz-Lozano, Pilar; Scimia, M Cecilia; Lindsey, James D; Weinreb, Robert; Albrecht, Beate; Megarbane, Andre; Alanay, Yasemin; Ben-Neriah, Ziva; Amenduni, Mariangela; Artuso, Rosangela; Veltman, Joris A; van Beusekom, Ellen; Oudakker, Astrid; Millán, José Luis; Hennekam, Raoul; Hamel, Ben; Courtneidge, Sara A; van Bokhoven, Hans

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

SPATA16基因纯合突变与人类圆头精子症中的男性不育有关

Dam, Anika H D M; Koscinski, Isabelle; Kremer, Jan A M; Moutou, Celine; Jaeger, Anne-Sophie; Oudakker, Astrid R; Tournaye, Herman; Charlet, Nicolas; Lagier-Tourenne, Clotilde; van Bokhoven, Hans; Viville, Stephane

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

真染色质组蛋白甲基转移酶1 (EHMT1) 的功能缺失突变会导致9q34亚端粒缺失综合征。

Kleefstra, Tjitske; Brunner, Han G; Amiel, Jeanne; Oudakker, Astrid R; Nillesen, Willy M; Magee, Alex; Geneviève, David; Cormier-Daire, Valérie; van Esch, Hilde; Fryns, Jean-Pierre; Hamel, Ben C J; Sistermans, Erik A; de Vries, Bert B A; van Bokhoven, Hans