Results 81 to 90 of about 199,160 (290)
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu+7 more
wiley +1 more source
Nonsense mutations – the underlying cause of approximately 11% of all genetic diseases – prematurely terminate protein synthesis by mutating a sense codon to a premature stop or termination codon (PTC).
Nikhil Bharti+10 more
doaj +1 more source
Readthrough of premature termination codons in the adenomatous polyposis coli gene restores its biological activity in human cancer cells. [PDF]
The APC tumor suppressor gene is frequently mutated in human colorectal cancer, with nonsense mutations accounting for 30% of all mutations in this gene.
Célia Floquet+2 more
doaj +1 more source
Mutations in the human ether-a-go-go-related gene (hERG) cause long-QT syndrome type 2 (LQT2). We previously described a homozygous LQT2 nonsense mutation Q1070X in which the mutant mRNA is degraded by nonsense-mediated mRNA decay (NMD) leading to a ...
Bhuiyan+39 more
core +1 more source
The importance of being divisible by three in alternative splicing [PDF]
Alternative splicing events that are conserved in orthologous genes in different species are commonly viewed as reliable evidence of authentic, functionally significant alternative splicing events.
Ast, Gil, Magen, Alon
core +4 more sources
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng+11 more
wiley +1 more source
Cryptic Splicing of GAP43 mRNA is a Novel Hallmark of TDP‐43‐Associated ALS and AD
TDP‐43 dysfunction disrupts RNA processing, inducing cryptic exon 4a1 inclusion in GAP43 and reducing its protein levels. This aberrant splicing impairs axonal regeneration and contributes to neurodegeneration in ALS and AD. RNA‐seq of patient brains reveals GAP43 downregulation and 4a1 upregulation, identifying cryptic exon 4a1 as a potential ...
Mingming Yang+9 more
wiley +1 more source
Nonsense mRNA suppression via nonstop decay
Nonsense-mediated mRNA decay is the process by which mRNAs bearing premature stop codons are recognized and cleared from the cell. While considerable information has accumulated regarding recognition of the premature stop codon, less is known about the ...
Joshua A Arribere, Andrew Z Fire
doaj +1 more source
The central dogma of molecular biology is a key concept for undergraduate students in the life sciences as it describes the flow of information in living systems from gene-to-gene product.
Sarah DeWolf+5 more
doaj +1 more source
Three phases in the evolution of the standard genetic code: how translation could get started [PDF]
A primordial genetic code is proposed, having only four codons assigned, GGC meaning glycine, GAC meaning aspartate/glutamate, GCC meaning alanine-like and GUC meaning valine-like.
van der Gulik, Peter
core +1 more source