Results 131 to 140 of about 51,494 (318)
Cancer Science, EarlyView.The RNA‐binding protein FXR1 promotes hepatocellular carcinoma (HCC) progression by driving alternative splicing of MK5 to generate an oncogenic isoform, MK5‐L, which activates the Wnt/β‐catenin pathway. Targeting FXR1 with an antisense oligonucleotide suppresses tumor growth in vivo, revealing a promising therapeutic strategy for HCC.
Yutong Li +6 more
wiley +1 more source
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
Molecular Therapy - Nucleic Acids, 2014 Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon ...
Greer, K.L. +4 more
openaire +3 more sources
Clinical Genetics, EarlyView.A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib +6 more
wiley +1 more source
Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Clinical Genetics, EarlyView.Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji +4 more
wiley +1 more source
Unexpected consequences: exon skipping caused by CRISPR-generated mutations [PDF]
, 2017 Joshua J. Sharpe, Thomas A. Cooper
openalex +1 more source
Post‐transcriptional regulatory networks: The dynamic interplay of RNA‐binding proteins
The FEBS Journal, EarlyView.Post‐transcriptional gene expression regulation is controlled by RNA‐binding proteins (RBPs), which influence many processes including splicing, localization, translation, and decay. Rather than acting alone, RBPs bind RNAs combinatorially, forming complex, context‐dependent regulatory networks.
Lena A. Street +2 more
wiley +1 more source
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype [PDF]
, 2001 Vittorio Sossi +7 more
openalex +1 more source
Long‐read sequencing‐based atlas of tissue‐specific expression of DNM1L transcript variants
The FEBS Journal, EarlyView.Targeted long‐read sequencing resolves full‐length DNM1L (Drp1) isoforms and reveals conserved, tissue‐specific expression patterns across human and mouse tissues. Functional assays show that Drp1 isoforms differ in their ability to drive mitochondrial fission, independent of abundance, with specific exons modulating activity.
Feng Yan +19 more
wiley +1 more source