Results 281 to 290 of about 407,038 (348)

Conservation assessment of human splice site annotation based on a 470-genome alignment. [PDF]

Nucleic Acids Res
Minkin I, Salzberg SL.
europepmc   +1 more source

Annexin A3 Represses Endothelial Permeability and Inflammation During Sepsis via Actin Cytoskeleton Modulation

Advanced Science, EarlyView.
Annexin A3 (ANXA3) plays an endogenous protective role in endothelial dysfunction in sepsis by stabilizing the actin cytoskeleton, modulating cell permeability, and inhibiting pATF2/CD62E inflammatory signaling. Abstract Increased endothelial permeability and a dysregulated inflammatory response play key roles in organ damage in sepsis.
Manyu Xing, Shuang Liang, Wei Cao, Qulian Guo, Wangyuan Zou   +4 more
wiley   +1 more source

ELLIPSIS: robust quantification of splicing in scRNA-seq. [PDF]

Bioinformatics
Van Hecke M, Beerenwinkel N, Lootens T, Fostier J, Raedt R, Marchal K.   +5 more
europepmc   +1 more source

ALKBH3‐Mediated M1A Demethylation of METTL3 Endows Pathological Fibrosis:Interplay Between M1A and M6A RNA Methylation

Advanced Science, EarlyView.
RNA modification is crucial in fibrosis diseases, but the role of m1A modification remains elusive. This study reveals that ALKBH3, an m1A demethylase, drives skin fibrosis by reshaping m6A RNA modification and stabilizing COL1A1 and FN1 mRNAs through METTL3, uncovering a crosstalk between m1A and m6A methylation in pathological events.
Liying Tu, Shuchen Gu, Ruoqing Xu, En Yang, Xin Huang, Hsin Liang, Shenying Luo, Haizhou Li, Yixuan Zhao, Tao Zan   +9 more
wiley   +1 more source

Gene Editing for Duchenne Muscular Dystrophy: From Experimental Models to Emerging Therapies. [PDF]

Degener Neurol Neuromuscul Dis
Haque US, Yokota T.
europepmc   +1 more source

Pyruvate Dehydrogenase Deficiency Due to Two Single Base-Pair Substitutions in Exons 5 and 6 of the .ALPHA. Subunit Gene of the Pyruvate Dehydrogenase.

, 1992
Kichiko Koike, Yoshishige Urata, Shinji Goto, Masafumi Matsuo   +3 more
openalex   +2 more sources

Magnetic‐Guided Delivery of Antisense Oligonucleotides for Targeted Transduction in Multiple Retinal Explant and Organoid Models

Advanced Science, EarlyView.
Magnetic field‐guided MNP@ATR‐ASO nanocomplexes facilitate the targeted delivery of ASOs to ganglion cells or photoreceptors within retinal explants, thereby enhancing the efficacy of ASOs in correcting pre‐mRNA splicing abnormalities. Furthermore, the nanocomplexes improve ASO penetration and delivery in human retinal and inner ear organoid models ...
Xiuhong Ye, Sihui Chen, Wei Xiong, Fan Wang, Hon Fai Chan, Haocheng Lai, Xiangyu Guo, Tingting Yang, Shuhao Shen, Hang Chen, Wenxuan Wang, Guei‐Sheung Liu, Yonglong Guo, Jiansu Chen   +13 more
wiley   +1 more source

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review. [PDF]

BMC Pediatr
Zhou J, Dan T, Zeng L, Xiong F, Pi G, Chen A, Liu H, Zhu S.   +7 more
europepmc   +1 more source

PRMT1‐Mediated SWI/SNF Complex Recruitment via SMARCC1 Drives IGF2BP2 Transcription to Enhance Carboplatin Resistance in Head and Neck Squamous Cell Carcinoma

Advanced Science, EarlyView.
PRMT1 drives carboplatin resistance and tumor progression in head and neck squamous cell carcinoma (HNSCC) through a novel, methyltransferase‐independent mechanism. It recruits the SWI/SNF complex to activate IGF2BP2, promoting tumor growth and carboplatin resistance. PBX2 upregulates PRMT1, reinforcing this pathway. This study uncovers a non‐catalytic
Shixian Liu, Wentao Zhang, Weiwei Liu, Zhao Ding, Ruijing Zhang, Yuefeng Han, Zihao Niu, Mengdie Zhang, Hui Li, Dapeng Li, Zixi Wang, Jie Peng, Yu Wu, Yanxun Han, Zihui Xie, Jing Wu, Liang Qin, Zhongdong Hu, Xu Chen, Yunlong Hu, Yehai Liu, Shiyin Ma, Xiaojun Zha   +22 more
wiley   +1 more source

Analysis of Exon Skipping Applicability for Dysferlinopathies. [PDF]

Cells
Leckie J, Rodriguez SH, Krahn M, Yokota T.   +3 more
europepmc   +1 more source