Results 121 to 130 of about 240,839 (324)
ExonSkipDB: functional annotation of exon skipping event in human
Nucleic Acids Res., 2019 Exon skipping (ES) is reported to be the most common alternative splicing event due to loss of functional domains/sites or shifting of the open reading frame (ORF), leading to a variety of human diseases and considered therapeutic targets.
P. Kim +4 more
semanticscholar +1 more source
The relationships among GC content, nucleosome occupancy, and exon size [PDF]
arXiv, 2014 The average size of internal translated exons, ranging from 120 to 165 nt across metazoans, is approximately the size of the typical mononucleosome (147 nt). Genome-wide study has also shown that nucleosome occupancy is significantly higher in exons than in introns, which might indicate that the evolution of exon size is related to its nucleosome ...
arxiv
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto +52 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2018 Duchenne muscular dystrophy (DMD), the most common lethal heritable childhood disease, is caused by mutations in the DMD gene that result in the absence of functional dystrophin protein.
Naoki Watanabe +8 more
doaj
Targeted exon skipping with AAV-mediated split adenine base editors
Cell Discovery, 2019 Techniques for exclusion of exons from mature transcripts have been applied as gene therapies for treating many different diseases. Since exon skipping has been traditionally accomplished using technologies that have a transient effect, it is ...
Jackson Winter +7 more
semanticscholar +1 more source
Exploring the Potential and Advancements of Circular RNA Therapeutics
Exploration, EarlyView.Given the remarkable advantages in terms of stability, sustained expression profile, safety, wide range of druggable targets, scalable and cost‐effective manufacturing capabilities, circRNA is currently undergoing intensive investigation for various therapeutic applications such as vaccines, protein replacement, genetic disease treatment, gene therapy,
Lei Wang +6 more
wiley +1 more source
Modulation of Exon Skipping and Inclusion by Heterogeneous Nuclear Ribonucleoprotein A1 and Pre-mRNA Splicing Factor SF2/ASF [PDF]
, 1993 Akila Mayeda +2 more
openalex +3 more sources
Human Mutation, 2018 Antisense oligonucleotide (AON)‐mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons adjacent to common exon deletions in DMD using AONs can produce in‐frame transcripts and ...
Richard T. Wang +12 more
semanticscholar +1 more source
The RNA Binding Protein Bcas2 is Required for Antibody Class Switch in Activated‐B Cells
Exploration, EarlyView.Bcas2 recruits DHX15 and SRSF7 to form a protein complex for the splicing of CSR‐related mRNA at the 5' ss and 3' ss, generating two mature mRNA isoforms, which are ultimately translated into CSR‐related proteins. These CSR‐related proteins bind to DNA associated with antibodies, affecting the DSB repair of the relevant DNA after AID induction, thereby
Yu Chen +29 more
wiley +1 more source
CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion
Genome Biology, 2017 CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-
Haiwei Mou +16 more
doaj +1 more source