Results 141 to 150 of about 225,841 (261)

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

Unraveling the FGFR-RNA splicing axis: Mechanisms, oncogenic crosstalks and innovations for therapeutic purpose. [PDF]

Acta Pharm Sin B
Xian X, Gong R, Rong S, Zhang Z, Jia F, Li L, Chen Z, Eymin B, Jia T.   +8 more
europepmc   +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
wiley   +1 more source

Pathogenic Analysis of Two <i>SLC22A5</i> Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency. [PDF]

Int J Neonatal Screen
Lin Y, Chen Y, Lin W, Zheng F.
europepmc   +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

NAT10-mediated N4-acetylcytidine modification drives RNA splicing of PML to alleviate adipose-derived stem cell senescence and promote diabetic wound healing. [PDF]

Clin Transl Med
Wei W, Jiang C, Zhu D, Han X, Ma X, Jia X, Ling J, Zhang R, Li F, Yin N.   +9 more
europepmc   +1 more source

A Phosphorylation‐Induced Micellization Switch in the Low‐Complexity Domain of TDP‐43

Advanced Science, EarlyView.
Phosphorylation of TAR DNA‐binding protein's 43 kDa (TDP‐43) low‐complexity domain by casein kinase 1 delta (CK1δ) acts as a molecular switch, redirecting its self‐assembly from macroscopic phase separation toward finite‐sized, spherical block‐copolymer micelles of ∼30 nm.
Rodrigo F. Dillenburg, Anastasia Lopatina, Hao Ruan, Tom Scheidt, Simone Mosna, Emre Pekbilir, Julia Bieber, Frank Schäfer‐Depoix, Katharina Landfester, Carla Schmidt, Martin M. Möckel, Svenja Morsbach, Friederike Schmid, Dorothee Dormann, Lukas Stelzl, Martin Girard, Edward A. Lemke   +16 more
wiley   +1 more source

Pervasive enhanced transcription in inflammatory breast cancer tumors and PBMCs impacts RNA splicing and intronic RNAs in plasma. [PDF]

Sci Adv
Wylie D, Wang X, Yao J, Xu H, Ferrick-Kiddie EA, Iwase T, Krishnamurthy S, Ueno NT, Lambowitz AM.   +8 more
europepmc   +1 more source

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

Targeting TRIM59 impairs RNA splicing and promotes neuroblastoma differentiation and therapeutic responses. [PDF]

J Exp Clin Cancer Res
Zhang Y, Yang Y, Chen G, Yin M, Gao Y, Li Y, Feng H.   +6 more
europepmc   +1 more source