Results 141 to 150 of about 240,839 (324)
EMBO Molecular Medicine, 2020 Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools.
Julie Martone +12 more
doaj +1 more source
Proceedings of the National Academy of Sciences of the United States of America, 2018 Significance The treatment of genetic kidney disease is challenging, as this requires both the correction of the underlying gene defect and the delivery of the treatment.
Simon A. Ramsbottom +11 more
semanticscholar +1 more source
Research progress of antibody coupling technique in targeted drug delivery
Interdisciplinary Medicine, EarlyView.Abstract Antibody‐drug conjugates are a cutting‐edge biotechnology recently attracting wide attention in the medical field. Binding antibodies to drug molecules could deliver drugs precisely to the site of the lesion, which shows great potential in the treatment of tumors and immune diseases.
Meng Li +6 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2018 Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang +8 more
doaj +1 more source
Inhibition of SF3B1 by molecules targeting the spliceosome results in massive aberrant exon skipping
RNA: A publication of the RNA Society, 2018 The recent identification of compounds that interact with the spliceosome (sudemycins, spliceostatin A, and meayamycin) indicates that these molecules modulate aberrant splicing via SF3B1 inhibition.
Gang Wu +9 more
semanticscholar +1 more source
Intronic Alus Influence Alternative Splicing [PDF]
PLoS Genet 2008 4(9): e1000204, 2008 Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing sites are located in the primate-specific retrotransposed element called Alu.
arxiv
GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]
, 1987 Joshua Marvit +5 more
openalex +1 more source
Movement Disorders, EarlyView.Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer +21 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene.
Tabatha R. Simmons +5 more
doaj
SASeq: A Selective and Adaptive Shrinkage Approach to Detect and Quantify Active Transcripts using RNA-Seq [PDF]
arXiv, 2012 Identification and quantification of condition-specific transcripts using RNA-Seq is vital in transcriptomics research. While initial efforts using mathematical or statistical modeling of read counts or per-base exonic signal have been successful, they may suffer from model overfitting since not all the reference transcripts in a database are expressed
arxiv