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

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

FMRP蛋白KH0结构域中的一个错义变异导致脆性X综合征患者体内该蛋白表达下调。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01967-x
D'Incal, Claudio Peter; Dierckx, Bram; Vingerhoets, Claudia; van Haelst, Mieke; Annear, Dale John; Van Dijck, Anke; Bastini, Lina; Konings, Anthony; Elinck, Ellen; Mateiu, Ligia; van Eeghen, Agnies M; Kooy, R Frank
发表日期：2025
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Gradual DNA methylation changes reveal transcription factors implicated in metabolic dysfunction-associated steatotic liver disease progression and epigenetic age acceleration

DNA甲基化的渐进性变化揭示了与代谢功能障碍相关的脂肪肝疾病进展和表观遗传年龄加速有关的转录因子。

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-025-01945-6
Van Dijck, Evelien; Van Laere, Steven; Logie, Emilie; Timmermans, Steven; Fransen, Erik; Ibrahim, Joe; Kendall, Timothy J; Fallowfield, Jonathan A; Mateiu, Ligia M; Libert, Claude; Van Camp, Guy; Verrijken, An; Van Gaal, Luc; Francque, Sven; Van Hul, Wim; Berghe, Wim Vanden
脂肪肝
表观遗传
DNA甲基化
代谢
发表日期：2025
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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

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-025-01998-7
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
细胞生物学
ADNP
发表日期：2025
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Time-Series Transcriptome Analysis of the Older Adult Mouse Cochlea After Noise-Induced Hearing Loss Reveals an Acute Immune Response and Recovery-Associated Pathways

对老年小鼠耳蜗噪声性听力损失后的时间序列转录组分析揭示了急性免疫反应和恢复相关通路

期刊:Molecular Neurobiology
影响因子:4.3
doi:10.1007/s12035-025-05324-3
Sels, Lize; Aben, Fien; Szewczyk, Krystyna; Faghel, Carole; Bartholomeus, Esther; Lion, Eva; Fransen, Erik; Mateiu, Ligia Monica; Van Camp, Guy; Van Rompaey, Vincent; Ponsaerts, Peter; Verdoodt, Dorien
信号转导
Mouse
免疫/内分泌
发表日期：2025
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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

期刊:Acta Neuropathologica Communications
影响因子:6.2
doi:10.1186/s40478-024-01743-w
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
表观遗传
线粒体
神经科学
ADNP
发表日期：2024
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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。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01556-4
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
信号转导
ADNP
发表日期：2024
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Identification of a DLG3 stop mutation in the MRX20 family

在MRX20家族中鉴定出DLG3终止突变

期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-024-01537-7
Jolien Huyghebaert ,Ligia Mateiu ,Ellen Elinck ,Kirsten Esther Van Rossem ,Bregje Christiaenssen ,Claudio Peter D'Incal ,Michael K McCormack ,Alice Lazzarini ,Geert Vandeweyer ,R Frank Kooy
发表日期：2024
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Transcriptomic analysis of ROS1+ non-small cell lung cancer reveals an upregulation of nucleotide synthesis and cell adhesion pathways

ROS1+非小细胞肺癌的转录组分析揭示了核苷酸合成和细胞粘附通路的上调

期刊:Frontiers in Oncology
影响因子:3.3
doi:10.3389/fonc.2024.1408697
Terrones, Marc; Op de Beeck, Ken; Van Camp, Guy; Vandeweyer, Geert; Mateiu, Ligia
肺癌
肿瘤
肿瘤免疫
信号转导
细胞生物学
发表日期：2024
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Loss of PPARα function promotes epigenetic dysregulation of lipid homeostasis driving ferroptosis and pyroptosis lipotoxicity in metabolic dysfunction associated Steatotic liver disease (MASLD)

PPARα 功能丧失会促进脂质稳态的表观遗传失调，导致代谢功能障碍相关脂肪肝 (MASLD) 中的铁死亡和焦亡脂毒性

期刊:Frontiers in Molecular Medicine
影响因子:
doi:10.3389/fmmed.2023.1283170
Claudia Theys, Tineke Vanderhaeghen, Evelien Van Dijck, Cedric Peleman, Anne Scheepers, Joe Ibrahim, Ligia Mateiu, Steven Timmermans, Tom Vanden Berghe, Sven M Francque, Wim Van Hul, Claude Libert, Wim Vanden Berghe
代谢
细胞生物学
脂肪肝
发表日期：2024
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Mitochondrial GpC and CpG DNA Hypermethylation Cause Metabolic Stress-Induced Mitophagy and Cholestophagy

线粒体GpC和CpG DNA高甲基化导致代谢应激诱导的线粒体自噬和胆汁自噬

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms242216412
Claudia Theys ,Joe Ibrahim ,Ligia Mateiu ,Archibold Mposhi ,Laura García-Pupo ,Tim De Pooter ,Peter De Rijk ,Mojca Strazisar ,İkbal Agah İnce ,Iuliana Vintea ,Marianne G Rots ,Wim Vanden Berghe
代谢
表观遗传
自噬
线粒体
发表日期：2023
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