Results 111 to 120 of about 65,308 (255)

Splicing Aberrations in Congenital Myasthenic Syndromes

Journal of Investigative Genomics, 2015
The fidelity of splicing is indispensable for assuring rapidly changing cellular processes and physiological integrity of the cells. The precise biogenesis of ribo nucleoprotein complexes (RNPs) is therefore essential, which is ensured by proper complementation of RNA and RNA-binding proteins in a specific cellular context. Genetic mutations disrupting
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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 comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome

Frontiers in Genetics
IntroductionX-linked Alport syndrome (XLAS), caused by mutations in the COL4A5 gene, is an X-linked hereditary disease typically characterized by renal failure, hearing loss, and ocular abnormalities.
Haomiao Li, Shengnan Zhang, Wei Zhou, Chunli Wang, Chunhua Zhu, Sanlong Zhao, Fei Zhao, Zhanjun Jia, Aihua Zhang, Bixia Zheng, Guixia Ding   +10 more
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Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, EarlyView.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

8‐Oxoguanine Modified CircMTUS1 Drives PABPC1 Phase Separation to Promote Gastric Cancer Progression and Cisplatin Resistance via Autophagy

Advanced Science, EarlyView.
ABSTRACT Gastric cancer (GC) is a major global health concern, as its prevention and treatment remain significant challenges. The 8‐oxoguanine (o8G) modification of circRNAs, alongside their capacity to orchestrate liquid‐liquid phase separation (LLPS) and autophagy, plays a pivotal role in driving tumor progression and determining therapeutic outcomes.
Lei Peng, Lurong Li, Zhenghui Zhu, Chenyang Li, Huaiming Sang, Guoxin Zhang, Xuan Li, Yini Dang, Yuanyuan Li   +8 more
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Comprehensive profiling and molecular characterization of alternative splicing regulation in synaptic remodelling associated with neuropathic pain induced by chronic constrictive injury in a rat model

RNA Biology
Neuropathic pain (NP) is a chronic pain condition caused by injury to the nervous system. Although alternative splicing dysregulation has been implicated in NP, the contribution of RNA-binding proteins (RBPs) to this process remains unclear.
Jun Zhou, Yifan Jia, Wei Song, Ying Zhang, Zhongyuan Xia   +4 more
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Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Microprotein MP104 Promotes Malignant Progression of Colorectal Cancer Through Regulating Protein Translation

Advanced Science, EarlyView.
A previously unrecognized microprotein, MP104, encoded by ZEB1‐AS1, emerges as a critical driver of colorectal cancer progression. MP104 links ubiquitin‐mediated protein degradation with translational reprogramming via the UBE2O–AMPKα2–mTOR–EIF4B axis, revealing an unrecognized layer of oncogenic regulation.
Fang Chen, Miao Wang, Hongmei Yong, Jin Ding, Shiping Xu, Qirui Ge, Yan Wang, Lei Zhang, Qianqian Xiao, Benli Li, Li Lin, Sufang Chu, Qianqing Wang, Jin Bai, Pingfu Hou   +14 more
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Widespread prevalence of CD19 exon 5–6 skipping in primary pediatric B-Cell acute lymphoblastic leukemia patients

Molecular and Cellular Pediatrics
Background B-cell acute lymphoblastic leukemia (B-ALL) is characterized by the malignant burgeoning of abnormal B-cell lymphoblasts. In recent years, the use of chimeric antigen receptor T-cell (CAR-T) therapy which targets CD19 antigen present on the ...
Devesh Srivastava, Anurag Gupta, Nishant Verma, Ashish Misra   +3 more
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Aberrant splicing in splicing factor mutant MDS [PDF]

Blood, 2018
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