Results 211 to 220 of about 394,248 (332)

Modulation of Neurexins Alternative Splicing by Cannabinoid Receptors 1 (CB1) Signaling. [PDF]

Cells
Innocenzi E, Sciamanna G, Zucchi A, Medici V, Cesari E, Farini D, Elliott DJ, Sette C, Grimaldi P.   +8 more
europepmc   +1 more source

METTL14‐Mediated M6A Modification of LINC01094 Induces Glucose Metabolic Reprogramming in Breast Cancer by Recruiting the PKM2/JMJD5 Complex

Advanced Science, EarlyView.
METTL14/IGF2BP2‐mediated m6A modification drives LINC01094 upregulation in BC. Then, LINC01094 interacts with PKM2 monomers to promote their dimerization, while serving as a flexible scaffold to facilitate the assembly of the PKM2/JMJD5 complex, synergistically stabilizing PKM2 dimers and enhancing their nuclear translocation.
Mengqi Wang, Zhaoxin Gao, Ruinan Zhao, Pan Zhou, Jingxi Chen, Hui Zhang, Yawen Wang, Wenjie Zhu, Peng Gao   +8 more
wiley   +1 more source

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +1 more source

In vitro-synthesized adenovirus 2 messenger RNA precursors are accurately spliced by nuclear extracts.

, 1984
Carlos J. Goldenberg
openalex   +1 more source

cis-acting intron mutations that affect the efficiency of avian retroviral RNA splicing: implication for mechanisms of control [PDF]

, 1988
Richard A. Katz, Moshe Kotler, A M Skalka   +2 more
openalex   +1 more source

Rational Design of Inner Ear Drug Delivery Systems

Advanced Science, EarlyView.
Hearing loss is a common disease affecting many people, and inner ear lesions are one of the most important causes. This review focuses on the treatment of inner ear hearing loss by drug delivery systems. It includes the current methods and technologies developed, and it predicts possible directions.
Xiayidan Maimaitikelimu, Zhiyan Xuan, Haoyu Ren, Keng Chen, Hui Zhang, Huan Wang   +5 more
wiley   +1 more source

Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

HGG Advances
Summary: Haploinsufficiency of JAG1 is the primary cause of Alagille syndrome (ALGS), a rare, multisystem disorder. The identification of JAG1 intronic variants outside of the canonical splice region as well as missense variants, both of which lead to ...
Ernest Keefer-Jacques, Nicolette Valente, Anastasia M. Jacko, Grace Matwijec, Apsara Reese, Aarna Tekriwal, Kathleen M. Loomes, Nancy B. Spinner, Melissa A. Gilbert   +8 more
doaj  

Antisense oligonucleotide therapies for monogenic disorders. [PDF]

Med Genet
Krey-Grauert I, Ferro I, Wagner M.
europepmc   +1 more source

Aberrant splicing events that are induced by proviral integration: implications for myb oncogene activation.

, 1987
Dan Rosson, Deborah Dugan, E. Premkumar Reddy   +2 more
openalex   +1 more source

Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD

Advanced Science, EarlyView.
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang, Qi Wang, Dongkun Kang, Shijia Wang, Yanli Jiang, Jian‐Zhi Wang, Chen Ming, Rong Liu, Jianlan Gu, Xiaochuan Wang   +9 more
wiley   +1 more source