Results 81 to 90 of about 65,308 (255)
Neurobiology of Disease, 2014 Myotonic dystrophy type 1 (DM1) is caused by transcription of CUG repeat RNA, which causes sequestration of muscleblind-like 1 (MBNL1) and upregulation of CUG triplet repeat RNA-binding protein (CUG-BP1).
Yoshihiro Yamashita +7 more
doaj +1 more source
m6A‐Mediated Glycolysis by IL‐37 Drives T Cell Metabolic Reprogramming to Regulate Colitis
Advanced Science, EarlyView.This study identifies an IL‐37/SIGIRR‐METTL14 regulatory axis that suppresses global m6A modification in CD4+ T cells. IL‐37 signaling, mediated through SIGIRR, inhibits IRAK4 and JNK phosphorylation, leading to downregulation of the methyltransferase METTL14.
Xiaoyan Wang +26 more
wiley +1 more source
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Human GenomicsBackground TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno +9 more
doaj +1 more source
Advanced Science, EarlyView.Dysregulated protein modifications drive tumorigenesis. RINES, an E3 ubiquitin ligase, represses tumor cell proliferation and metastasis by facilitating RING domain‐dependent, ubiquitin–proteasome‐mediated degradation of STAT3 and MYC, which consequently restrains cancer stemness and oncogenic progression.
Lili Li +8 more
wiley +1 more source
Advanced Science, EarlyView.STAU2 undergoes phase separation to form dynamic condensates that package target mRNAs and deliver them to the distal ends of growing neuronal dendrites. STAU2 condensates stabilize embedded mRNAs and repress their translation. Synaptic activity bidirectionally remodels STAU2 condensates, coordinating local translation of STAU2‐associated mRNAs ...
Shijing Huang +8 more
wiley +1 more source
Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta
Frontiers in Genetics, 2019 Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2.
Lulu Li +10 more
doaj +1 more source
Dynamic Regulation of Endogenous Transcription Factor Hubs at Single‐Molecule Resolution
Advanced Science, EarlyView.This study combines single‐molecule microscopy and genome editing to characterize the dynamic behaviors of endogenous oncofusion transcription factor EWS::FLI1 in Ewing sarcoma cells. EWS::FLI1 forms neomorphic hubs that dynamically assemble and dissolve. The hubs are regulated during mitosis, by RNA, and by specific chemicals.
Shawn Yoshida +4 more
wiley +1 more source
Targeting RNA splicing modulation: new perspectives for anticancer strategy?
Journal of Experimental & Clinical Cancer ResearchThe excision of introns from pre-mRNA is a crucial process in the expression of the majority of genes. Alternative splicing allows a single gene to generate diverse mRNA and protein products.
Xuemei Lv +8 more
doaj +1 more source
Aberrant recursive splicing in a human disease locus
Recursive splice sites are rare motifs postulated to facilitate splicing across massive introns and shape isoform diversity, especially for long, brain-expressed genes. The necessity of this unique mechanism remains unsubstantiated, as does the role of recursive splicing (RS) in human disease.
Philip M. Boone +43 more
openaire +3 more sources
Advanced Science, EarlyView.Stem cell differentiation follows a conserved surface condensate trajectory: H3K27ac super enhancers nucleate large RNA polymerase II clusters that grow and unfold before transcriptional activity disperses them. This work reveals how biophysical forces at enhancer surfaces dynamically build and dismantle stem cell transcription hubs, reshaping cell ...
Tim Klingberg +18 more
wiley +1 more source