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

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske

Trithorax regulates long-term memory in Drosophila through epigenetic maintenance of mushroom body metabolic state and translation capacity.

Trithorax 通过表观遗传维持蘑菇体代谢状态和翻译能力来调节果蝇的长期记忆

Raun Nicholas, Jones Spencer G, Kerr Olivia, Keung Crystal, Butler Emily F, Alka Kumari, Krupski Jonathan D, Reid-Taylor Robert A, Ibrahim Veyan, Williams MacKayla, Top Deniz, Kramer Jamie M

Mitigation of TDP-43 toxic phenotype by an RGNEF fragment in amyotrophic lateral sclerosis models

RGNEF片段在肌萎缩侧索硬化症模型中减轻TDP-43毒性表型

Droppelmann, Cristian A; Campos-Melo, Danae; Noches, Veronica; McLellan, Crystal; Szabla, Robert; Lyons, Taylor A; Amzil, Hind; Withers, Benjamin; Kaplanis, Brianna; Sonkar, Kirti S; Simon, Anne; Buratti, Emanuele; Junop, Murray; Kramer, Jamie M; Strong, Michael J

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

关键染色质修饰因子WDR5中杂合错义变异的聚集定义了一种新的神经发育障碍

Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A Micheil; Stumpel, Connie; Õunap, Katrin; Reinson, Karit; Seaby, Eleanor G; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H; Sheppard, Sarah E; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D; Campeau, Philippe M; Millan, Francisca; Taylor, Jesse A; Lochmüller, Hanns; Higgs, Martin R; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J; Schmanski, Andrew A; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E; Kramer, Jamie M; den Hoed, Joery; Fisher, Simon E; Brunner, Han G; Kleefstra, Tjitske

The epigenetic regulator G9a attenuates stress-induced resistance and metabolic transcriptional programs across different stressors and species

表观遗传调控因子G9a能够减弱不同胁迫因子和物种的应激诱导抗性和代谢转录程序。

Riahi, Human; Fenckova, Michaela; Goruk, Kayla J; Schenck, Annette; Kramer, Jamie M

The histone methyltransferase G9a regulates tolerance to oxidative stress-induced energy consumption.

组蛋白甲基转移酶 G9a 调节对氧化应激诱导的能量消耗的耐受性

Riahi Human, Brekelmans Carlijn, Foriel Sarah, Merkling Sarah H, Lyons Taylor A, Itskov Pavel M, Kleefstra Tjitske, Ribeiro Carlos, van Rij Ronald P, Kramer Jamie M, Schenck Annette

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

组蛋白甲基转移酶EHMT1和KMT2C的功能趋同与智力障碍和自闭症谱系障碍有关

Koemans, Tom S; Kleefstra, Tjitske; Chubak, Melissa C; Stone, Max H; Reijnders, Margot R F; de Munnik, Sonja; Willemsen, Marjolein H; Fenckova, Michaela; Stumpel, Connie T R M; Bok, Levinus A; Sifuentes Saenz, Margarita; Byerly, Kyna A; Baughn, Linda B; Stegmann, Alexander P A; Pfundt, Rolph; Zhou, Huiqing; van Bokhoven, Hans; Schenck, Annette; Kramer, Jamie M

Drosophila Courtship Conditioning As a Measure of Learning and Memory

果蝇求偶条件反射作为学习和记忆的衡量指标

Koemans, Tom S; Oppitz, Cornelia; Donders, Rogier A T; van Bokhoven, Hans; Schenck, Annette; Keleman, Krystyna; Kramer, Jamie M

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

系统表型组学分析将智力障碍中发生的基因突变分解为生物学上连贯的模块

Kochinke, Korinna; Zweier, Christiane; Nijhof, Bonnie; Fenckova, Michaela; Cizek, Pavel; Honti, Frank; Keerthikumar, Shivakumar; Oortveld, Merel A W; Kleefstra, Tjitske; Kramer, Jamie M; Webber, Caleb; Huynen, Martijn A; Schenck, Annette

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability

在果蝇智力障碍模型中,泛素连接酶HUWE1通过Wnt/β-catenin通路调控轴突分支。

Vandewalle, Joke; Langen, Marion; Zschätzsch, Marlen; Nijhof, Bonnie; Kramer, Jamie M; Brems, Hilde; Bauters, Marijke; Lauwers, Elsa; Srahna, Mohammed; Marynen, Peter; Verstreken, Patrik; Schenck, Annette; Hassan, Bassem A; Froyen, Guy