Results 91 to 100 of about 37,352 (250)
Advanced Science, EarlyView.This study establishes that the RBM25‐PRPF40A interaction modulates MYPT1 splicing, promoting the production of the oncogenic long isoform. This isoform stabilizes YAP by suppressing its phosphorylation and subsequent proteasomal degradation, ultimately accelerating tumor growth.
Wenjing Zhang +14 more
wiley +1 more source
Transcriptome analysis of spliceosome inhibition in human cells
, 2020 Recently, small molecule inhibitors of the spliceosome have been shown to have anti-tumour effects, yet their mechanism of cancer inhibition remains unknown.
Blackmore, Alex
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Cancer in Systemic Sclerosis: Clinical Associations and Prognostic Impact From the EUSTAR Registry
Arthritis &Rheumatology, EarlyView.Objective Cancer represents a major cause of death in systemic sclerosis (SSc). Established risk factors are limited to specific subsets, particularly early diffuse anti‐RNA polymerase III (POLR3)–positive disease, needing further exploration. Methods We performed a nested case‐control study within the European Scleroderma Trials and Research group ...
Antonio Tonutti +52 more
wiley +1 more source
Structural studies of spliceosome assembly and catalysis [PDF]
, 2019 Eukaryotic genes contain non-coding introns, removal of which during gene expression is a pre-requisite for gene function. Removal of introns and ligation of coding exons ––a process called splicing––is catalysed by a dynamic macromolecular machine ...
core +2 more sources
The metabolic reprogramming and vulnerability of SF3B1 mutations
Molecular & Cellular Oncology, 2020 Mutations in the splicing factor 3b subunit 1 (SF3B1) gene create a neomorphic protein that disrupts RNA splicing, but the downstream consequences of this missplicing are unclear.
W. Brian Dalton
doaj +1 more source
Rapid Access to Photoswitchable RNA Binders: Fluorination Enhances Protein Rescue by Exon Inclusion
Chemistry – A European Journal, EarlyView.An adaptable approach, many light‐switchable RNA binders. We report a versatile strategy for rapidly synthesizing photoswitchable RNA binders. The ligands can target SMN2 pre‐mRNA, restoring the levels of the corresponding protein by exon‐inclusion rescue.
Lei Zhang +10 more
wiley +1 more source
The spliceosome as a new therapeutic vulnerability in aggressive prostate cancer
Molecular & Cellular Oncology, 2020 Alternative splicing (AS) analysis across the entire spectrum of human prostate cancer evolution reveals the unexpected findings that intron retention is a hallmark of stemness and tumor aggressiveness, and androgen receptor controls a splicing program ...
Cheng Zou, Dingxiao Zhang
doaj +1 more source
Cells, 2020 Splicing is a tightly orchestrated process by which the brain produces protein diversity over time and space. While this process specializes and diversifies neurons, its deregulation may be responsible for their selective degeneration.
Valentina La Cognata +3 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source