Results 61 to 70 of about 117,100 (294)
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing
Scientific Reports, 2023 AbstractAchromatopsia is an autosomal recessive cone photoreceptor disease that is frequently caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional analysis of 20 CNGA3 splice site variants detected in our large cohort of achromatopsia patients and/or listed in common variant databases.
Peggy Reuter +3 more
openaire +3 more sources
The newfound relationship between extrachromosomal DNAs and excised signal circles
FEBS Letters, EarlyView.Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
RNA structure in alternative splicing regulation: from mechanism to therapy
Acta Biochimica et Biophysica SinicaAlternative splicing is a highly intricate process that plays a crucial role in post-transcriptional regulation and significantly expands the functional proteome of a limited number of coding genes in eukaryotes ...
Bao Nengcheng +4 more
doaj +1 more source
Ultra-deep sequencing reveals pre-mRNA splicing as a sequence driven high-fidelity process.
PLoS ONE, 2019 Alternative splicing diversifies mRNA transcripts in human cells. While the spliceosome pairs exons with a high degree of accuracy, the rates of rare aberrant and non-canonical pre-mRNA splicing have not been evaluated at the nucleotide level to ...
Derrick J Reynolds, Klemens J Hertel
doaj +1 more source
Nuclear processes associated with plant immunity and pathogen susceptibility [PDF]
, 2015 Plants are sessile organisms that have evolved exquisite and sophisticated mechanisms to adapt to their biotic and abiotic environment. Plants deploy receptors and vast signalling networks to detect, transmit and respond to a given biotic threat by ...
Huitema, Edgar +3 more
core +3 more sources
Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions
FEBS Letters, EarlyView.We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva +10 more
wiley +1 more source
Nature Communications, 2020 Dysregulation of mRNA alternative splicing is prevalent in cancers. Here, the authors characterized the landscape of aberrant alternative splicing during the development of prostate cancer, progression and therapeutic resistance and show that splicing ...
Dingxiao Zhang +12 more
doaj +1 more source
Clinical impact of splicing in neurodevelopmental disorders. [PDF]
, 2020 Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How +2 more
core +1 more source
Cfp1 is required for gene expression dependent H3K4me3 and H3K9 acetylation in embryonic stem cells [PDF]
, 2014 BackgroundTrimethylation of histone H3 lysine 4 (H3K4me3) accumulates at promoters in a gene activity dependent manner. The Set1 complex is responsible for most H3K4me3 in somatic cells and contains the conserved subunit Cfp1, which is implicated in ...
Bird, Adrian +2 more
core +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source