Results 131 to 140 of about 606,407 (214)
, 2008 Background Some mutations in the internal regions of exons occur within splicing enhancers and silencers, influencing the pattern of alternative splicing in the corresponding genes.
Afonin Kirill A +11 more
core +1 more source
A Novel Pak1 Activator Ameliorates ER Stress for HFpEF Therapy
Advanced 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
Molecular Therapy: Nucleic AcidsLate-onset Pompe disease (LOPD) is overwhelmingly caused by a single mutation that disrupts splicing of acid-alpha glucosidase (GAA) and results in the accumulation of lysosomal glycogen in muscle cells leading to progressive muscle weakness in patients.
Ryan A. Oliver +22 more
doaj +1 more source
Advanced 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
, 2011 T a count of the splicing effects, not the mutations in that category.Copyright information:Taken from "The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence"http://www.biomedcentral.com ...
Preeti Rajesh (86467) +11 more
core +1 more source
Advanced Science, EarlyView.CircZNF148 stabilizes HK1 through deubiquitinase recruitment, thereby enhancing glycolysis and lactate production. Elevated lactate promotes PD‑L1 lactylation and membrane accumulation while suppressing CD8+ T‐cell cytotoxicity, collectively facilitating immune evasion and malignant progression in TNBC.
Yuhan Jin +17 more
wiley +1 more source
Advanced Science, EarlyView.Androgen receptor (AR) drives copper accumulation in prostate cancer while inducing MTF1 to buffer copper toxicity. EP300‐mediated lactylation of MTF1 at K218 promotes its nuclear translocation and metallothionein expression, sequestering cytosolic copper and preventing mitochondrial cuproptosis.
Kai Li +21 more
wiley +1 more source
Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency
Human Genome VariationHere, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing ...
Yo Niida +3 more
doaj +1 more source
Pre-mRNA Splicing: An Evolutionary Computational Journey from Ribozymes to Spliceosome [PDF]
, 2017 The intron–exon organization of the genes is nowadays taken for granted and constitutes a fully established theory. DNA protein-coding sequences (exons) are not contiguous but rather separated by silent intervening fragments (introns), which must be ...
Casalino, Lorenzo
core
, 2011 T a count of the splicing effects, not the mutations in that category.Copyright information:Taken from "The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence"http://www.biomedcentral.com ...
Preeti Rajesh (86467) +11 more
core +1 more source