Results 111 to 120 of about 5,713,314 (265)

METTL7A Downregulation Drives SLC1A5‐Mediated Glutamine Competition to Promote Tumor Proliferation and Suppress CD8+ T Cell Immunity in Gastric Cancer

open access: yesAdvanced Science, EarlyView.
GC cells enhance glutamine accumulation by upregulating SLC1A5 expression. This upregulation not only boosts GC cell proliferation, but also outcompetes CD8+ T cells for glutamine and suppresses their antitumor immunity. Mechanistically, METTL7A deficiency in GC induces SLC1A5 overexpression via an m6A‐dependent pathway and N‐glycosylation ...
Mingjun Sun   +16 more
wiley   +1 more source

Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs. [PDF]

open access: yes, 1998
In several forms of beta-thalassemia, mutations in the second intron of the beta-globin gene create aberrant 5' splice sites and activate a common cryptic 3' splice site upstream.
Suter, D   +9 more
core   +1 more source

A Novel Pak1 Activator Ameliorates ER Stress for HFpEF Therapy

open access: yesAdvanced Science, EarlyView.
Chronic metabolic stress is a major contributor to HFpEF progression. Under prolonged metabolic stress, Pak1 activity becomes impaired, contributing to disrupted ER proteostasis, cardiomyocyte apoptosis, fibrosis, and diastolic dysfunction. Mechanistically, Pak1 overexpression activates the ERK1/2–MNK1–eIF4E signaling axis, promotes translational ...
Honglin Xu   +17 more
wiley   +1 more source

Pre-mRNA Splicing Modulation by Antisense Oligonucleotides [PDF]

open access: yes, 2018
Pre-mRNA splicing, a dynamic process of intron removal and exon joining, is governed by a combinatorial control exerted by overlapping cis-elements that are unique to each exon and its flanking intronic sequences. Splicing cis-elements are usually 4-to-8-
Luo, Diou   +5 more
core   +1 more source

Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay

open access: yesFrontiers in Genetics
Background: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level.
Fengjiao Pan   +14 more
doaj   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

open access: yesAdvanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou   +18 more
wiley   +1 more source

Structural basis for the sequence-specific RNA-recognition mechanism of human CUG-BP1 RRM3 [PDF]

open access: yes, 2009
The CUG-binding protein 1 (CUG-BP1) is a member of the CUG-BP1 and ETR-like factors (CELF) family or the Bruno-like family and is involved in the control of splicing, translation and mRNA degradation.
Kanako Kuwasako   +27 more
core   +2 more sources

Metabolic reprogramming of cancer cells by JMJD6-mediated pre-mRNA splicing associated with therapeutic response to splicing inhibitor

open access: yeseLife
Dysregulated pre-mRNA splicing and metabolism are two hallmarks of MYC-driven cancers. Pharmacological inhibition of both processes has been extensively investigated as potential therapeutic avenues in preclinical and clinical studies.
Carolyn M Jablonowski   +20 more
doaj   +1 more source

Ultra-deep sequencing reveals pre-mRNA splicing as a sequence driven high-fidelity process.

open access: yesPLoS ONE, 2019
Alternative splicing diversifies mRNA transcripts in human cells. While the spliceosome pairs exons with a high degree of accuracy, the rates of rare aberrant and non-canonical pre-mRNA splicing have not been evaluated at the nucleotide level to ...
Derrick J Reynolds, Klemens J Hertel
doaj   +1 more source

DEAD-box protein Ddx46 is required for the development of the digestive organs and brain in zebrafish.

open access: yesPLoS ONE, 2012
Spatially and temporally controlled gene expression, including transcription, several mRNA processing steps, and the export of mature mRNA to the cytoplasm, is essential for developmental processes.
Shunya Hozumi   +8 more
doaj   +1 more source

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