Results 91 to 100 of about 1,070 (210)

HNRNPU K181 Lactylation Drives Cervical Cancer Growth by Upregulating PHGDH and Reprogramming Serine Metabolism

Advanced Science, EarlyView.
Lactate in cervical cancer induces HNRNPU K181 lactylation, opposed by NAA50‐mediated acetylation and suppressed by Pazopanib. This lactylation enhances HNRNPU binding to PHGDH pre‐mRNA exon 1, maintaining exon 1‐containing transcripts and mRNA stability, thereby activating serine metabolism.
Chang Zhang, Qingfei Meng, Hui Jiao, Huixin Liu, Xiangchao Wang, Honglan Zhou, Yishu Wang   +6 more
wiley   +1 more source

m6A‐Mediated Glycolysis by IL‐37 Drives T Cell Metabolic Reprogramming to Regulate Colitis

Advanced Science, EarlyView.
This study identifies an IL‐37/SIGIRR‐METTL14 regulatory axis that suppresses global m6A modification in CD4+ T cells. IL‐37 signaling, mediated through SIGIRR, inhibits IRAK4 and JNK phosphorylation, leading to downregulation of the methyltransferase METTL14.
Xiaoyan Wang, Jiadong Yu, Guolin Li, Ya Li, Fanlian Zeng, Jing Hu, Yifan Zhou, Chengcheng Yue, Qixiang Zhao, Chen Zhang, Hong Zhou, Fulei Zhao, Yawen Hu, Pei Zhou, Linna Gu, Yuting Feng, Mingxiang He, Shishi Huang, Xiaochi Sun, Xinmeng Wang, Jie Tang, Xinyu Zeng, Wenling Wu, Nongyu Huang, Xinai Cui, Kaijun Cui, Jiong Li   +26 more
wiley   +1 more source

Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection

Journal of Lipid Research, 1996
Cholesteryl ester transfer protein (CETP) deficiency is the most common cause of hyperalphalipoproteinemia in Japan. However, the genetic basis of this disorder has not been fully characterized. We have studied a 49-year-old Japanese male presenting with
N Sakai, S Santamarina-Fojo, S Yamashita, Y Matsuzawa, H.B Brewer, Jr   +4 more
doaj   +1 more source

RBM10 Deficiency Promotes Anti‐PD‐1 Resistance in LUAD via STING Alternative Splicing‐Driven CCL7 Signaling and Macrophage Polarization

Advanced Science, EarlyView.
RBM10 deficiency promotes anti‐PD‐1 resistance in lung adenocarcinoma by altering STING alternative splicing, which enhances CCL7 secretion and CCR2‐dependent M2 macrophage polarization. A positive feedback loop via mitochondrial transfer sustains this immunosuppression.
Weitong Gao, Ruqiong Wang, Bo An, Lishuang Qi, Zihan Jing, Xingmei Ren, Yang Zhou, Mingjun Xu, Jiaojiao Li, Jie Liu, Liying Wang, Gang Xu, Rou Li, Dexin Jia, Yan Yu   +14 more
wiley   +1 more source

A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

Balkan Journal of Medical Genetics, 2019
Megalencephalic leukoencephalopathy (MLC) with subcortical cysts, also known as Van der Knaap disease (MIM #604004) is an autosomal recessive neurological disorder characterized by early onset macrocephaly, epilepsy, neurological deterioration with ...
Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D   +3 more
doaj   +1 more source

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v1; ref status: indexed, http://f1000r.es/4nq]

F1000Research, 2014
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding
Natasha Caminsky, Eliseos J. Mucaki, Peter K. Rogan   +2 more
doaj   +1 more source

GHRHR Deficiency Enhances Retinal Ganglion Cell Survival and Visual Functions in Experimental Glaucoma by Inhibiting Ferroptosis

Advanced Science, EarlyView.
Glaucoma, a major cause of blindness, involves retinal ganglion cell (RGC) degeneration. This study shows growth hormone‐releasing hormone receptor (GHRHR) deficiency preserves RGC survival and restores vision, unlike activation which only aids survival.
Yan Tong, Ming Ho Yam, Jiaxin Zhang, Lin Du, Linbin Zhou, Yolanda Wong Ying Yip, Bo Man Ho, Hemlata Bisnauthsing, Jiahui Li, Ivan Kong, Shushu Xu, Changzhen Fu, Karl K.H. So, Joaquim S.L. Vong, Ling‐Ping Cen, Ming‐Ming Yang, Khazeema Yousaf, Mai Har Sham, Sun On Chan, Poemen P. Chan, Chi Pui Pang, Clement C. Tham, Jing Na He, Jian Li, Wai Kit Chu   +24 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

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Muscles
SYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome
Theresa Paulus, Natalie Young, Emily Jessop, Carolin Berwanger, Christoph Stephan Clemen, Rolf Schröder, Rafal Ploski, Christian Hagel, Yorck Hellenbroich, Andreas Moser, Iakowos Karakesisoglou   +10 more
doaj   +1 more source

Fine‐Tuned Regulation of mRNA Translation and Transport by STAU2 Condensate Facilitates Neuronal Development and Plasticity

Advanced Science, EarlyView.
STAU2 undergoes phase separation to form dynamic condensates that package target mRNAs and deliver them to the distal ends of growing neuronal dendrites. STAU2 condensates stabilize embedded mRNAs and repress their translation. Synaptic activity bidirectionally remodels STAU2 condensates, coordinating local translation of STAU2‐associated mRNAs ...
Shijing Huang, Yuanyuan Chu, Ruiqian Zhao, Siyu Li, Yu Feng, Hongdan Zheng, Yunli Xie, Tong Wang, Wenyu Wen   +8 more
wiley   +1 more source