Results 91 to 100 of about 1,526 (158)

Decoding the pathogenicity of epilepsy-associated non-coding genetic variants

Epilepsy is among the most prevalent neurological disorders, affecting an estimated 50 million people worldwide (World Health Organization, 2024), and is increasingly recognised to have a substantial genetic component (Thomas & Berkovic, 2014; Epi25 ...
Zhang, Lanxin
core   +3 more sources

KCC2 : de la physiologie à la pathologie

, 2023
Cette thèse explore le rôle de KCC2 dans la séquence GABAergique au cours du développement et son implication dans les troubles neurodéveloppementaux (TND). Deux questions clés sont abordées : (1) Comment KCC2 est-il régulé au cours du développement, et (
Hamze, Mira
core  

Additional file 2 of Unveiling the therapeutic potential of IHMT-337 in glioma treatment: targeting the EZH2-SLC12A5 axis

Supplementary Material 2. Figure S2 (a) Methylation status of CpG islands in the SLC12A5 gene, with the red box indicating the CpG island selected for experimental purposes. (b) Effects of KCC2 overexpression and knockdown on WNK1 activity in U251 cells.
Zhang, Hongwei, Wang, Zixuan, Qiao, Xiaolong, Peng, Nan, Wu, Jiaxing, Chen, Yinan, Cheng, Chuandong   +6 more
openaire   +1 more source

Additional file 3 of Unveiling the therapeutic potential of IHMT-337 in glioma treatment: targeting the EZH2-SLC12A5 axis

Supplementary Material 3.Figure S3 (a) Flow cytometry analysis of the effect of IHMT-337 on apoptosis in U87 and U251 cells. (b) TUNEL assay to evaluate the effect of IHMT-337 on apoptosis in U87 and U251 cells. (c) EdU assay assessing the impact of IHMT-337 on cell proliferation in U251 cells.
Zhang, Hongwei, Wang, Zixuan, Qiao, Xiaolong, Peng, Nan, Wu, Jiaxing, Chen, Yinan, Cheng, Chuandong   +6 more
openaire   +1 more source

Additional file 5 of Unveiling the therapeutic potential of IHMT-337 in glioma treatment: targeting the EZH2-SLC12A5 axis

Supplementary Material 5.
Zhang, Hongwei, Wang, Zixuan, Qiao, Xiaolong, Peng, Nan, Wu, Jiaxing, Chen, Yinan, Cheng, Chuandong   +6 more
openaire   +1 more source

Additional file 1 of Unveiling the therapeutic potential of IHMT-337 in glioma treatment: targeting the EZH2-SLC12A5 axis

Supplementary Material 1.Figure S1 (a) Analysis of EZH2's impact on prognosis in recurrent gliomas using the CGGA database. (b) Evaluation of EZH2's prognostic influence using the TCGA database. (c) Expression levels of SLC12A5 in different types of gliomas. (d) Influence of SLC12A5 on the prognosis of primary gliomas in the CGGA database.
Zhang, Hongwei, Wang, Zixuan, Qiao, Xiaolong, Peng, Nan, Wu, Jiaxing, Chen, Yinan, Cheng, Chuandong   +6 more
openaire   +1 more source

KCC2 is overexpressed in WNK1/HSN2 knockdown embryos.

, 2013
A) RT-PCR against slc12a5 (coding for kcc2) shows higher levels of RNA in WNK1/HSN2 knockdown embryos when compared with WT at 72 hpf as well as at 24 hpf.
Meijiang Liao (105548), Pierre Drapeau (105560), Valérie Bercier (105543), Patrick A. Dion (105550), Edna Brustein (105546), Ronald G. Lafrenière (105553), Guy A. Rouleau (105556)   +6 more
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Identification of early Alzheimer’s disease subclass and signature genes based on PANoptosis genes

Frontiers in Immunology
IntroductionAlzheimer’s disease (AD) is one of the most prevalent forms of dementia globally and remains an incurable condition that often leads to death.
Wenxu Wang, Wenxu Wang, Jincheng Lu, Jincheng Lu, Ningyun Pan, Ningyun Pan, Huiying Zhang, Jingcen Dai, Jie Li, Cheng Chi, Liumei Zhang, Liang Wang, Mengying Zhang, Mengying Zhang   +13 more
doaj   +1 more source

Mendelian randomisation and colocalisation reveal pleiotropic effects of CD40/SLC12A5 locus on CD40 protein, depression, and immune disease

Abstract Inflammatory pathways are implicated in depression, but the specific immune proteins and causal variants involved remain unclear. This study investigated potential causal relationships between 91 immune-related plasma proteins and depression using generalized summary Mendelian randomisation.
Rachel Laattoe, Elina Hypponen, David Stacey, Sarah Cohen-Woods   +3 more
openaire   +1 more source

The mechanistic functional landscape of retinitis pigmentosa: a machine learning-driven approach to therapeutic target discovery

Journal of Translational Medicine
Background Retinitis pigmentosa is the prevailing genetic cause of blindness in developed nations with no effective treatments. In the pursuit of unraveling the intricate dynamics underlying this complex disease, mechanistic models emerge as a tool of ...
Marina Esteban-Medina, Carlos Loucera, Kinza Rian, Sheyla Velasco, Lorena Olivares-González, Regina Rodrigo, Joaquin Dopazo, Maria Peña-Chilet   +7 more
doaj   +1 more source