Results 131 to 140 of about 261,179 (217)

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Wang Z, Chen X, Cui Z, Qi X, Gu L, Liu Y, Zhao W, Jiang Y.   +7 more
europepmc   +1 more source

Single‐Cell Profiling Identifies SLC2A5‐Mediated Fructose Metabolism as a Vulnerability in Primary CNS Lymphoma

Advanced Science, EarlyView.
Glucose deprivation in the primary CNS lymphoma (PCNSL) tumor microenvironment drives SLC2A5 (encoding GLUT5)‐dependent fructose metabolism in tumor cells, while hypoxia induces HIF‐mediated SLC2A5 expression in tumor‐supportive macrophages, revealing SLC2A5‐driven fructose utilization as a shared and targetable metabolic vulnerability across malignant
Qiaoli Wu, Qianru Zhang, Wenqiang Yan, Lu Sun, Yiran Cui, Bolin Liu, Guoqing Han, Feng Zhang, Ke Pu, Mingchao Zhang, Xiaobing Zhang, Qingguo Li, Gang An, Yuxuan Liu   +13 more
wiley   +1 more source

A novel <i>UBASH3B::PVT1</i> fusion in B-cell acute lymphoblastic leukemia with <i>PAX5-PTD</i>: a case report and literature review. [PDF]

Blood Sci
Zhuang X, Wang Y, Yang Q, Shen H, Wang M, Gao M, Xiao B, Liu T, Zhou J, You T, Wang Q, Kong Y, Xu X, Cai M, Zhuo Y, Huang H, Chen S, Wang Q.   +17 more
europepmc   +1 more source

Fatty Acid Binding Protein 5 Mediates Astrocytic Pyroptosis and Neuroinflammation in Epilepsy via cGAS/STING Pathway

Advanced Science, EarlyView.
Astrocytic FABP5 promotes mitochondrial stress, cGAS‐STING pathway activation, pyroptosis, and neuroinflammation in epilepsy, contributing to seizure pathology. Genetic targeting of FABP5 or pharmacological inhibition of STING alleviates epileptic phenotypes, highlighting a potential therapeutic strategy for epilepsy.
Chen Chen, Yao Zhao, Yangye Lian, Yifei Hou, Lifen Gong, Tingting Wu, Yulin Yang, Jiaqi Zhu, Xin Wang, Kaihua Zhang, Jing Ding   +10 more
wiley   +1 more source

U2AF1 modulates alternative exon selection and guards zygotic splicing activation in mouse preimplantation embryogenesis. [PDF]

Cell Mol Life Sci
Jiang ZY, Wu X, Jia MY, Chen L, Liu YQ, Fan HY, Zhang YL.   +6 more
europepmc   +1 more source

Pathological Copper Overload Reprograms SOD1 Activation via COMMD1 to Promote Senescence and Fibrosis

Advanced Science, EarlyView.
This study uncovers a previously unrecognized copper‐COMMD1‐SOD1 regulatory axis, revealing that pathological copper overload paradoxically suppresses SOD1 activity by promoting COMMD1‐dependent disruption of SOD1 homodimerization. These findings redefine the regulatory role of copper in SOD1 biology and provide novel mechanistic insight into the ...
Yuqing Liu, Jing Liu, Wenqian Zhou, Yangyang Niu, Yan Zheng, Yiguo Liu, Yingying Zhang, Chen Yu   +7 more
wiley   +1 more source

X-Linked Intellectual Developmental Disorder-93 Caused by BRWD3 Mutation in Females: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Xiu Y, Zhang Y, Jiao Y, Wang W, Hu Y.
europepmc   +1 more source

Cerium Nanoparticle‐Mediated Inhibition of the NSUN2/m5C Axis Suppresses Synovial Aggression in Rheumatoid Arthritis

Advanced Science, EarlyView.
A novel epitranscriptomic mechanism in rheumatoid arthritis is uncovered: NSUN2 promotes disease via m5C‐dependent stabilization of ICMT mRNA, fueling the migration and invasion of pathogenic RA FLS. Targeting this axis with engineered nanoparticles (Ce/SAA NPs) effectively inhibits disease progression, presenting a precise therapeutic strategy ...
Ruiru Li, Simin Chen, Huijuan Hu, Shiyao Wu, Jingnan Wang, Kai Sun, Chenxi Peng, Suling Liu, Shuoyang Zhang, Yu Kuang, Wei Chen, Qian Qiu, Liuqin Liang, Yu Wen, Hanshi Xu, Youjun Xiao   +15 more
wiley   +1 more source

Case report: novel <i>DNAH11</i> compound heterozygous variants including an exon 30-54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype. [PDF]

Front Genet
Wang S, Zhang Y, Wu M, He Y, Chen S, Xu X, Lv M, Ji J, Wang Y.   +8 more
europepmc   +1 more source

Psychological Stress Associated Bile Acid Reprogramming Promotes Hepatocellular Carcinoma Progression

Advanced Science, EarlyView.
Depression is increasingly recognized as a risk factor for chronic diseases, yet its biological impact on cancer remains unclear. Using data from more than 490 000 participants across three international cohorts, we show that depression significantly increases the risk of liver cancer.
Ruijiang Zeng, Mengmeng Wang, Kang Wang, Zhuo Xing, Yulong Hong, Tongtong Li, Geng Zong, Chong Yang, Dan Zhang, Zhangling Chen, Xin Jin   +10 more
wiley   +1 more source