Results 231 to 240 of about 633,120 (300)

Inhibition of MEKK3 Prevents Cerebral Cavernous Malformation Progression Via Restoring Endothelial Integrity and Restricting Microglial Activation

Advanced Science, EarlyView.
In this study, we demonstrate that aberrant MEKK3 signaling in endothelial cells and microglia drives the progression of cerebral cavernous malformations (CCMs). Furthermore, we identify DPDH as a potent small‐molecule MEKK3 inhibitor with substantial therapeutic potential for CCM treatment.
Weiwei Zheng, Suyun Yu, Liwenyu Chen, Jing Ma, Peiliang Shen, Chang Yu, Xiaoqing Xin, Qiuhong Shen, Jing Chen, Song Ke, Hao Liu, Xiaobing Jiang, Ruogu Qi, Juming Yan, Jia Li, Jaesung P. Choi, Yin Lu, Yang Zhao   +17 more
wiley   +1 more source

The spectrum of <i>C9orf72</i> repeat lengths in Portuguese frontotemporal dementia and amyotrophic lateral sclerosis patients: from pathogenic expansions to intermediate alleles. [PDF]

Front Neurosci
Almeida MR, Tábuas-Pereira M, Matos A, Santos A, Teixeira C, Baldeiras I, Lima M, Santana I.   +7 more
europepmc   +1 more source

Allele [PDF]

, 2019
openaire   +1 more source

β‐Adducin Restrains PLA2G4A‐Dependent Lysosomal Membrane Permeabilization and Neuronal Death in Ischemic Stroke

Advanced Science, EarlyView.
This study identifies β‐adducin as a regulator of lysosomal integrity in ischemic neurons. Ischemia‐associated FTO loss increases m6A modification and destabilizes Add2 mRNA, reducing β‐adducin expression and promoting PLA2G4A accumulation at lysosomes.
Hui‐qin Li, Pin‐yi Liu, Dan Wu, Fei‐yu Ma, Yi Bai, Sheng‐nan Xia, Hai‐yan Yang, Xin‐yu Bao, Yun Xu, Xiang Cao   +9 more
wiley   +1 more source

Identification of Seven Novel HLA Alleles by Third Generation Sequencing. [PDF]

HLA
Sutherland AH, Turner TR, Flaxl LM, Swadling L, Mayor NP.   +4 more
europepmc   +1 more source

A Living Multi‐Omics PDX Biobank of High‐Risk Sarcomas Reveals ecDNA‐Driven Oncogene Amplification in Osteosarcoma and Enables Preclinical Precision Oncology

Advanced Science, EarlyView.
A living multi‐omics sarcoma PDX biobank is enriched for high‐risk disease and preserves key patient tumor features at histopathological and molecular levels. Integrated profiling reveals ecDNA‐driven oncogene amplification in osteosarcoma and preferential retention of ecDNA during PDX evolution.
Weisong Zhao, Zhiwei Cheng, Kai Tian, Mengxiong Sun, Zhuoying Wang, Ming Jiao, Jens Luebeck, Kaiyuan Zhu, Xiao Zhang, Dongqing Zuo, Hongsheng Wang, Chongren Wang, Jiakang Shen, Xiaojun Ma, Gangyang Wang, Zongyi Wang, Jing Han, Kaiyuan Liu, Haoran Mu, Weiqi Ma, Yongyong Ren, Shibing Guo, Huangxin Tu, Lingfeng Yu, Yining Tao, Yu Lv, Hui Lu, Owen S. Chapman, Rishaan Kenkre, Lukas Chavez, Zhengdong Cai, Yuqin Yang, Wei Sun, Yafei Jiang, Yingqi Hua   +34 more
wiley   +1 more source

HLA Diversity of Over 500,000 Individuals on the DATRI Register Across 18 Regions in India. [PDF]

HLA
Agapiou M, Cereb N, Rutt C, Marsh SGE, Robinson J.   +4 more
europepmc   +1 more source

Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links

Advanced Science, EarlyView.
Based on a multi‐omics cohort of 2002 individuals comprising high‐depth whole‐genome and metagenomic sequencing data, blood metabolites, and detailed questionnaires, we identified 138 859 high‐confidence SVs, uncovering 36 significant SV–microbiome associations and 48 SV–blood metabolite associations.
Qun Zhou, Keqing Wang, Junhong Chen, Haoyu Wang, Xinjiang Tan, Xuanlin Huang, Zhiyin Lin, Xun Xu, Xin Jin, Shaoqiao Zhang, Liang Xiao, Yuanqiang Zou, Tao Zhang, Xiaomin Liu   +13 more
wiley   +1 more source

Distinct Associations of Age and CYP2D6 Genotype With Parent Venlafaxine Exposure and O-Demethylation in Japanese Psychiatric Patients. [PDF]

Neuropsychopharmacol Rep
Ishihara Y, Sasaki T, Asahi T, Ono Y, Sugisaki T, Hiramatsu R, Kawamata Y, Sugawara N, Yasui-Furukori N.   +8 more
europepmc   +1 more source