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

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome

对未甲基化的完全突变携带者的转录组分析表明,TET3参与了脆性X综合征中FMR1 CGG重复序列扩增的甲基化动态变化。

Farmiloe, Grace; Bejczy, Veronika; Tabolacci, Elisabetta; Willemsen, Rob; Jacobs, Frank

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

AMFR功能障碍会导致人类常染色体隐性遗传性痉挛性截瘫,在临床前模型中,他汀类药物治疗有效。

Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kühn, Nikolas A; van der Linde, Herma C; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T; Ruijter, George J G; Lütjohann, Dieter; Jacobs, Edwin H; Houlden, Henry; Pagnamenta, Alistair T; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H; van Ham, Tjakko J; Issa, Mahmoud; Zaki, Maha S; Gleeson, Joseph G; Willemsen, Rob; Kaya, Namik; Arold, Stefan T; Maroofian, Reza; Sanderson, Leslie E; Barakat, Tahsin Stefan

Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

FLII基因的双等位基因变异会破坏心肌细胞黏附和肌原纤维组织,从而导致儿童心肌病。

Ruijmbeek, Claudine Wb; Housley, Filomena; Idrees, Hafiza; Housley, Michael P; Pestel, Jenny; Keller, Leonie; Lai, Jason Kh; der Linde, Herma C van; Willemsen, Rob; Piesker, Janett; Al-Hassnan, Zuhair N; Almesned, Abdulrahman; Dalinghaus, Michiel; den Bersselaar, Lisa M van; van Slegtenhorst, Marjon A; Tessadori, Federico; Bakkers, Jeroen; van Ham, Tjakko J; Stainier, Didier Yr; Verhagen, Judith Ma; Reischauer, Sven

Mouse models of fragile X-related disorders

脆性X染色体相关疾病的小鼠模型

Willemsen, Rob; Kooy, R Frank

Zebrafish: An In Vivo Screening Model to Study Ocular Phenotypes

斑马鱼:一种用于研究眼部表型的体内筛选模型

Quint, Wim H; Tadema, Kirke C D; Crins, Johan H C; Kokke, Nina C C J; Meester-Smoor, Magda A; Willemsen, Rob; Klaver, Caroline C W; Iglesias, Adriana I

Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms

FMR1基因前突变携带者出现痴呆和神经精神症状的神经病理学研究

Dijkstra, Anke A; Haify, Saif N; Verwey, Niek A; Prins, Niels D; van der Toorn, Esmay C; Rozemuller, Annemieke J M; Bugiani, Marianna; den Dunnen, Wilfred F A; Todd, Peter K; Charlet-Berguerand, Nicolas; Willemsen, Rob; Hukema, Renate K; Hoozemans, Jeroen J M

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos.

降低氧化应激可抑制斑马鱼胚胎中聚糖还原酶介导的毒性

Riemslagh Fréderike W, Verhagen Rob F M, van der Toorn Esmay C, Smits Daphne J, Quint Wim H, van der Linde Herma C, van Ham Tjakko J, Willemsen Rob

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

小分子 1a 可降低 FMRpolyG 介导的 FMR1 前突变体外和体内模型的毒性

Haify Saif N, Buijsen Ronald A M, Verwegen Lucas, Severijnen Lies-Anne W F M, de Boer Helen, Boumeester Valerie, Monshouwer Roos, Yang Wang-Yong, Cameron Michael D, Willemsen Rob, Disney Matthew D, Hukema Renate K

Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

在FXTAS模型中,降低Fmr1 mRNA水平可挽救皮层神经元的病理特征。

Drozd, Malgorzata; Delhaye, Sébastien; Maurin, Thomas; Castagnola, Sara; Grossi, Mauro; Brau, Frédéric; Jarjat, Marielle; Willemsen, Rob; Capovilla, Maria; Hukema, Renate K; Lalli, Enzo; Bardoni, Barbara

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

HR23B 病理优先与 C9ORF72 相关的额颞叶痴呆和肌萎缩侧索硬化症中的 p62、pTDP-43 和 poly-GA 共定位

Riemslagh, Frederike W; Lans, Hannes; Seelaar, Harro; Severijnen, Lies-Anne W F M; Melhem, Shamiram; Vermeulen, Wim; Aronica, Eleonora; Pasterkamp, R Jeroen; van Swieten, John C; Willemsen, Rob