Results 81 to 90 of about 747,509 (280)

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Loss of E3 Ubiquitin Ligase RINES via CpG Methylation Relieves Suppression of STAT3 and MYC, Facilitating Multiple Tumorigeneses

Advanced Science, EarlyView.
Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li, Ka Man Ng, Xingsheng Shu, Xiaoxue Chai, Kai Yau Wong, Gopesh Srivastava, Anthony T.C. Chan, Wai Yee Chan, Qian Tao   +8 more
wiley   +1 more source

CA9‐Targeted PET Imaging for Noninvasive Discrimination of Clear Cell Renal Cell Carcinoma and Associated Tumor Biological Features

Advanced Science, EarlyView.
CA9‐targeted PET imaging could be a noninvasive approach to characterize clear cell renal cell carcinoma and associated tumor biology. PET uptake correlates with tumor CA9 expression and is linked to angiogenic activity, immune remodeling, and metabolic reprogramming.
Kailei Chen, Sixuan Cheng, Jian Shi, Ruijie Liu, Yilong Wu, Xin Zheng, Xinlun Song, Yunxuan Zhang, Lei Liu, Zhihao Wei, Qi Wang, Xinwei Li, Zirui Dong, Yuenan Liu, Hongmei Yang, Xiaoli Lan, Chunxia Qin, Dawei Jiang, Keshan Wang, Xiaoping Zhang   +19 more
wiley   +1 more source

Diabetes mellitus and other pathology in patients with INS and INSR mutations

Сахарный диабет, 2012
Over 20 missense mutations and Y108X nonsense mutation in INS are dominant and induce synthesis of chimeric proteins that may interfere with folding and processing of all insulin molecules.
Yury Alexandrovich Pankov
doaj   +1 more source

SOX5 Orchestrates Malignant Evolution via Promoter‐Centric Chromatin Remodeling in MYC‐Driven B‐Cell Lymphoma

Advanced Science, EarlyView.
In MYC‐enforced B‐cell lymphoma, SOX5 occupies promoter‐proximal regulatory regions and is associated with reduced chromatin accessibility at the PCNP locus. PCNP repression promotes proliferative remodeling by limiting apoptosis and cell‐cycle restraint.
Yiyou Mao, Zhenyuan Jia, Xiao‐Qin Mu, Ruilin Wang, Jianli Ma, Qingyuan Zhang, Yuwei Deng   +6 more
wiley   +1 more source

Deep Learning Prediction of O‐Glycopeptide Tandem Mass Spectra Enhances O‐Glycoproteomics

Advanced Science, EarlyView.
DeepGPO integrates Transformer and graph neural networks with tailored training strategies, including data augmentation, loss re‐weighting, and pre‐training, to achieve high‐quality O‐glycopeptide MS/MS spectra prediction. The predicted MS/MS spectra are used to localize O‐glycosylation sites from HCD MS/MS data, enhancing O‐glycoproteomics analysis ...
Yu Zong, Yuxin Wang, Liang Qiao
wiley   +1 more source

Agent‐Based Simulations of Lung Tumor Evolution Suggest That Ongoing Cell Competition Drives Realistic Clonal Expansions

Advanced Science, EarlyView.
Computational simulations of tumor evolution are increasingly used to infer the rules underlying cancer growth, with the goal of one day recommending tailored treatments. Here we show that the properties of lung cancer sequencing data are best replicated by a model which assumes that cells compete both to proliferate and survive. ABSTRACT Computational
Helena Coggan, James R. M. Black, Carlos Martínez‐Ruiz, Kristiana Grigoriadis, Jasmin Fisher, Nicholas McGranahan   +5 more
wiley   +1 more source

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.

PLoS Genetics
The leiomodin (Lmod) family of actin-binding proteins play a critical role in muscle function, highlighted by the fact that mutations in all three family members (LMOD1-3) result in human myopathies.
Christopher T Pappas, Rachel M Mayfield, Ava E Dickerson, Lei Mi-Mi, Carol C Gregorio   +4 more
doaj   +1 more source

Read-through therapy for mitochondrial DNA nonsense mutations

, 2012
Disorders resulting from mitochondrial DNA (mtDNA) mutations, including nonsense mutations, do not yet have causal treatments. As we discuss here, read-through therapies appear to be a promising approach to the treatment of disorders arising from nuclear
Pacheu-Grau,D., López-Gallardo,E., Montoya,J., Ruiz-Pesini,E., Gómez-Durán,A.   +4 more
core   +1 more source

Tumor Exposomics: A New Paradigm for Individualized Continuous Exposure Monitoring

Advanced Science, EarlyView.
Tumor exposomics integrates continuous monitoring of environmental exposures, endogenous biological responses, and behavioral factors within a unified temporal framework. By combining multimodal sensing technologies with AI‐enabled causal modeling, this emerging paradigm reconstructs exposure‐damage trajectories and supports individualized dynamic risk
Kaicheng Shen, Weiyi Wang, Yang Wang, Yiqiang Wu, Xiaohong Liu, Wei Zhang, Juanjuan Ou   +6 more
wiley   +1 more source