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

ADNP missense variant p.C687R disrupts chromatin regulation and GABAergic differentiation in Helsmoortel-Van der Aa syndrome.

ADNP 错义变异 p.C687R 破坏了 Helsmoortel-Van der Aa 综合征中的染色质调控和 GABA 能分化。

Chen Qi, Liu Xixi, Wu Mengnan, Sun Daijing, Ding Xingyu, Zhou Mengling, Peng Wenzhu, Cheng Yan, Xue Biqing, Tang Ning, Xu Gang, Tai Yilin, Xu Qiong, Xiong Man, Jiang Yan

ADNP regulates chromatin architecture and lineage fidelity during neural differentiation

ADNP在神经分化过程中调控染色质结构和谱系保真度

Wulfridge, Phillip; Rell, Nathaniel; Doherty, John; Fang, Kuo-Chen; Lynskey, Michelle Lee; Sarma, Kavitha

ADNP is essential for sex-dependent hippocampal neurogenesis, through male unfolded protein response and female mitochondrial gene regulation.

ADNP 通过雄性未折叠蛋白反应和雌性线粒体基因调控,对性别依赖性海马神经发生至关重要。

The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis

染色质重塑因子ADNP调控神经发育障碍风险基因和新皮层神经发生。

Clémot-Dupont, Samuel; Lourenço Fernandes, José Alex; Larrigan, Sarah; Sun, Xiaoqi; Medisetti, Suma; Stanley, Rory; El Hankouri, Ziyad; Joshi, Shrilaxmi V; Picketts, David J; Shekhar, Karthik; Mattar, Pierre

Synaptic Deficits in Adnp-Mutant Mice Are Ameliorated by Histone Demethylase LSD1 Inhibition.

组蛋白去甲基化酶 LSD1 抑制剂可改善 Adnp 突变小鼠的突触缺陷。

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study

活性依赖性神经保护蛋白 (ADNP) 的移码变异导致异卵男性双胞胎的核细胞骨架改变:病例研究

D'Incal, Claudio Peter; Van Dijck, Anke; Annear, Dale John; Harutyunyan, Lusine; Elinck, Ellen; Dingemans, Alexander J M; de Vries, Bert B A; Mateiu, Ligia; Meuwissen, Marije; Jansen, Anna C; Kooy, R Frank

ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case

在Helsmoortel-Van der Aa综合征尸检病例中,ADNP导致小脑甲基化和线粒体基因表达失调

Claudio D'Incal ,Anke Van Dijck ,Joe Ibrahim ,Kevin De Man ,Lina Bastini ,Anthony Konings ,Ellen Elinck ,Claudia Theys ,Illana Gozes ,Zlatko Marusic ,Mirna Anicic ,Jurica Vukovic ,Nathalie Van der Aa ,Ligia Mateiu ,Wim Vanden Berghe ,R Frank Kooy

Moderate Physical Activity Increases the Expression of ADNP in Rat Brain

适度体育活动可增加大鼠脑内ADNP的表达

Maugeri, Grazia; D'Amico, Agata Grazia; Federico, Concetta; Saccone, Salvatore; D'Agata, Velia; Musumeci, Giuseppe

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome

活性依赖性神经保护蛋白 (ADNP) 的剪接受体位点突变导致其功能丧失,从而引起赫尔斯莫特尔-范德阿综合征。

D'Incal, Claudio Peter; Annear, Dale John; Elinck, Ellen; van der Smagt, Jasper J; Alders, Mariëlle; Dingemans, Alexander J M; Mateiu, Ligia; de Vries, Bert B A; Vanden Berghe, Wim; Kooy, R Frank

Integrated ribosome and proteome analyses reveal insights into sevoflurane-induced long-term social behavior and cognitive dysfunctions through ADNP inhibition in neonatal mice

综合核糖体和蛋白质组分析揭示了七氟醚通过抑制 ADNP 诱导新生小鼠长期社交行为和认知功能障碍

Li-Rong Liang, Bing Liu, Shu-Hui Cao, You-Yi Zhao, Tian Zeng, Mei-Ting Zhai, Ze Fan, Dan-Yi He, San-Xin Ma, Xiao-Tong Shi, Yao Zhang, Hui Zhang