Results 141 to 150 of about 5,713,314 (265)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Pre-mRNA Splicing: An Evolutionary Computational Journey from Ribozymes to Spliceosome [PDF]

, 2017
The intron–exon organization of the genes is nowadays taken for granted and constitutes a fully established theory. DNA protein-coding sequences (exons) are not contiguous but rather separated by silent intervening fragments (introns), which must be ...
Casalino, Lorenzo
core  

m5C Reader ALYREF Promotes the Progression of Endometrial Cancer by Activating the XRCC6‐Mediated Wnt/β‐catenin Signaling Pathway

Advanced Science, EarlyView.
This study identifies ALYREF as an oncogenic m5C reader in endometrial cancer. ALYREF recognizes NSUN2‐mediated m5C modification on XRCC6 mRNA to enhance transcript stability and increase XRCC6 expression. Elevated XRCC6 activates Wnt/β‐catenin signaling, resulting in accelerated tumor cell proliferation, migration, invasion, and xenograft tumor growth.
Linlin Hao, Jian Zhang, Qi Qian, Min Jiang, Yu Liu, Yan Geng, Nan Cui, Qi Guo, Jie Guo   +8 more
wiley   +1 more source

Three intronic variants altering RNA splicing were identified in the CLCN5 gene by minigene assay

BMC Medical Genomics
Background The Dent disease 1 is a rarely inherited renal tubular disease caused by variants in the CLCN5 gene. Increasing evidence suggests that many intronic variants can affect the normal splicing of pre-mRNA by altering various splicing regulatory ...
Dan Qiao, Xuyan Liu, Irene Bottillo, Ran Zhang, Leping Shao   +4 more
doaj   +1 more source

NSUN2‐Mediated m5C Modification of TGFB1 in Trophoblasts Remodels Macrophage Function to Prevent URSA

Advanced Science, EarlyView.
NSUN2 and m5C decline in URSA villous tissues. Trophoblast Nsun2 ablation disrupts macrophage‐mediated maternal‐fetal tolerance and triggers embryo resorption. Mechanistically, NSUN2‐YBX1 axis stabilizes m5C‐modified TGFB1 mRNA to maintain TGF‐β1 secretion and M2 polarization, and restoring this signaling rescues maternal‐fetal immune tolerance to ...
Xiaoxiao Zhu, Xinkui Liu, Xiaoyan Yu, Qiaoqiao Han, Feifei Shi, Weiwei Song, Lu Liu, Chu Chu, Chenyang Shen, Zhen Zhang, Xia Li   +10 more
wiley   +1 more source

Protein phosphorylation and the nuclear organization of pre-mRNA splicing

, 1997
Controlled execution of transcription and pre-mRNA splicing is crucial for proper gene expression. The organization of these essential events within the cell nucleus is only beginning to be understood.
Spector, D. L., Misteli, T.
core   +1 more source

Phase Separation of SF3B1 Serves as a Critical Post‐Transcriptional Regulator During Early Mouse Embryogenesis

Advanced Science, EarlyView.
Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao, Ting‐Yu Han, Yan‐Li Cheng, Yi‐Dan Zhang, Yu‐Wei Zhang, JinJian Guo, ShaoJun Zhang, WenZe Huang, Jing Zhang, Pei‐Yu Liao, Ying Xin, ChuanChen Chu, Qing‐Yuan Sun, ZhiZhen Liu, Xiang‐Hong Ou, Jun Xie   +15 more
wiley   +1 more source

SnoRNP Biogenesis Meets Pre-mRNA Splicing

, 2006
In vertebrates, hundreds of small nucleolar RNAs (snoRNAs) are processed from pre-mRNA introns. In the September 1 issue of Molecular Cell, Hirose et al.
Tamás Kiss, Kiss, Tamás
core   +1 more source

SIRT7‐Mediated H2BK120 Succinylation Drives Aberrant Mitophagy in Sepsis‐Associated Cognitive Dysfunction

Advanced Science, EarlyView.
Sepsis triggers hippocampal SIRT7 loss, promoting histone H2B succinylation and activation of the PD‐1/PD‐L1–PINK1 axis. This metabolic‐epigenetic cascade drives aberrant mitophagy and neuronal injury, ultimately causing cognitive deficits. Targeting SIRT7‐dependent succinylation offers a potential strategy to protect brain function during sepsis ...
Na Meng, Jiateng Zhou, Xiaoyu Guo, Ting Hong, Xuelian Li, Xingyu Wei, Chanhua Zhang, Xixue Zhang, Songbin Liu, Yulin Zhang, Liangfang Yao, Lina Huang, Weidong Gu   +12 more
wiley   +1 more source

Helicobacter pylori‐Induced Persistent IGF2BP1 Activation Promotes Ferroptosis Resistance in Gastric Tumorigenesis

Advanced Science, EarlyView.
Helicobacter pylori infection induces sustained upregulation of the RNA‐binding protein IGF2BP1 in gastric epithelial cells, establishing a persistent epitranscriptomic program. IGF2BP1 stabilizes SLC7A11 mRNA in an m6A‐dependent manner to suppress ferroptosis and promote epithelial survival under oxidative stress. Pharmacological inhibition of IGF2BP1
Jing Ning, Xin Guan, Xinyu Hao, Jing Zhang, Deyao Li, Ying Xiong, Wenlin Zhang, Xiurui Han, Yanfei Lang, Meiling Zhou, Mengjie Yang, Zhi Huang, Tinghui Qu, Ming Zu, Qiao Meng, Weiwei Fu, Fengmin Lu, Jing Zhang, Xiangmei Chen, Tong Liu, Shigang Ding   +20 more
wiley   +1 more source