Results 151 to 160 of about 159,772 (339)

Protocol to study the effects of mutations near splicing sites on pre-mRNA splicing

STAR Protocols
Mutations at RNA splicing sites or regulatory elements can alter splicing efficiency or patterns, affecting RNA functionality and tissue-specific expression. Here, we present a protocol to study the impact of mutations near splicing sites on precursor mRNA (pre-mRNA) splicing.
Daoyuan Xie, Qiongling Peng, Yu Tian, Yangyun Han, Guanting Lu   +4 more
openaire   +2 more sources

Wedelolactone, a Novel TLR2 Agonist, Promotes Neutrophil Differentiation and Ameliorates Neutropenia: A Multi‐Omics Approach to Unravel the Mechanism

Advanced Science, EarlyView.
Wedelolactone (WED), a natural TLR2 agonist, promotes neutrophil differentiation and enhances bactericidal function, offering a potential therapeutic strategy for neutropenia. Using a multi‐omics approach, this study reveals that WED activates the TLR2/MEK/ERK pathway, upregulating key transcription factors (PU.1, CEBPβ) to drive neutrophil development.
Long Wang, Zhichao Li, Tianci Hu, Qinyao Li, Linwei Zhang, Xinyue Mei, Xiao Qi, Sheng Liu, Weijie Kong, Jiesi Luo, Anguo Wu, Feihong Huang, Sirui Li, Shuang Dai, Chunxiang Zhang, Rong Li, Jianming Wu   +16 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review. [PDF]

Mol Genet Genomic Med, 2023
Li C, Wen Y, Zhao M, Wang Y, Li P, Wang L, Wang S.   +6 more
europepmc   +1 more source

Splicing therapeutics for patients affected by lysosomal storage disorders [PDF]

, 2017
In this study, we have used a modified U1 snRNA that completely matches the splice donor site of HGSNAT gene exon 2, which corrected the effect of the common 5’ splice site mutation c.234+1G>A in Mucopolysaccharidosis IIIC.
Alves, Sandra, Canals, Isaac, Gonçalves, Vânia, Grinberg, Daniel, Jordan, Peter, Matos, Liliana, Prata, Maria João, Pérez, Belén   +7 more
core  

TRIM56 Aggravates Cerebral Ischemia‐Reperfusion Injury via Inhibiting KLF4‐Activated Ferroptosis Signaling

Advanced Science, EarlyView.
This study reveals that the E3 ubiquitin ligase TRIM56 exacerbates neuronal ferroptosis and brain damage by mediating K48‐linked ubiquitination and degradation of KLF4, leading to suppression of the xCT/GSH/GPX4 axis. Targeting TRIM56 alleviates cerebral ischemia‐reperfusion injury in vivo and in vitro, highlighting its therapeutic potential.
Qiangping Wang, Shuang Li, Man Li, Wenke Zhou, Jianqing Zhang, Zhenfu Wu, Zhaoqi Mao, Juan Wan, Xinhao Tang, Baoping Zheng, Qiang Liu, Zhendong Li, Xiaobing Jiang, Qingping Wu, Youfan Ye, Haijun Wang   +15 more
wiley   +1 more source

Comprehensive Profiling of N6‐methyladnosine (m6A) Readouts Reveals Novel m6A Readers That Regulate Human Embryonic Stem Cell Differentiation

Advanced Science, EarlyView.
This research deciphers the m6A transcriptome by profiling its sites and functional readout effects: from mRNA stability, translation to alternative splicing, across five different cell types. Machine learning model identifies novel m6A‐binding proteins DDX6 and FXR2 and novel m6A reader proteins FUBP3 and L1TD1.
Zhou Huang, Rucong Liu, Zibaguli Wubulikasimu, Wanqing Zhao, Jiaqi Huang, Jiaxuan Wang, Tianyuan Zhang, Rui Fan, Wei Kong, Qinghua Cui, Yang Li, Yuan Zhou   +11 more
wiley   +1 more source

Lactylation‐Driven YTHDC1 Alleviates MASLD by Suppressing PTPN22‐Mediated Dephosphorylation of NLRP3

Advanced Science, EarlyView.
In MASLD, YTHDC1 undergoes increased lactylation and ubiquitination, reducing its expression. AARS1 mediates lactylation at lysine 565, while disrupted binding to LDHA further promotes lactylation, suppressing YTHDC1. This downregulation enhances PTPN22 mRNA stability, leading to NLRP3 dephosphorylation and activation, which exacerbates inflammation ...
Feng Zhang, Linghua Zeng, Kunkun Zou, Keying Lin, Fangting Yao, Jinglun Song, Shumeng Zhang, Hanshu Feng, Zhichao Yang, Chunlei Wang, Hongtao Diao, Xue Kong, Tengfei Pan, Joonki Kim, Tianqi Duo, Linqiang Li, Yu Bian   +16 more
wiley   +1 more source

Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia. [PDF]

Asian J Androl, 2023
Xu Y, Wang J, Liu JH, Gao QQ, Wang B, Xu ZP.   +5 more
europepmc   +1 more source

Splice Site Mutations in the P-Cadherin Gene Underlie Hypotrichosis with Juvenile Macular Dystrophy [PDF]

, 2010
Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Angela M. Christiano   +3 more
openalex   +1 more source