Results 41 to 50 of about 127,159 (238)
Identification of small molecule and genetic modulators of AON-induced dystrophin exon skipping by high-throughput screening. [PDF]
PLoS ONE, 2009 One therapeutic approach to Duchenne Muscular Dystrophy (DMD) recently entering clinical trials aims to convert DMD phenotypes to that of a milder disease variant, Becker Muscular Dystrophy (BMD), by employing antisense oligonucleotides (AONs) targeting ...
Debra A O'Leary +8 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2023 Duchenne muscular dystrophy (DMD) is a progressive X-linked disease caused by mutations in the DMD gene that prevent the expression of a functional dystrophin protein. Exon duplications represent 6%–11% of mutations, and duplications of exon 2 (Dup2) are
Liubov V. Gushchina +7 more
doaj +1 more source
Exon-skipping in BCR/ABL is induced by ABL exon 2 [PDF]
Biochemical Journal, 2000 The BCR/ABL fusion gene is pathognomonic for chronic myelogenous leukaemia (CML). We have previously reported alternative splicing of BCR/ABL, as indicated by the detection of both p190- and p210-encoding transcripts, in about 60% of CML patient samples.
B D, Lichty, S, Kamel-Reid
openaire +2 more sources
A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. [PDF]
PLoS ONE, 2012 Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes spinal muscular atrophy (SMA), a neurodegenerative disease.
Natalia N Singh +3 more
doaj +1 more source
ESMO Open, 2020 Background ERBB2 exon 16 skipping is an alternatively spliced isoform of ERBB2, which was reported to lead to oncogenic activation of ERBB2 and could potentially cause tyrosine kinase inhibitor (TKI) resistance in non-small cell lung cancer (NSCLC) in ...
Xue Wu +8 more
doaj +1 more source
Insecticide resistance mediated by an exon skipping event [PDF]
, 2016 Many genes increase coding capacity by alternate exon usage. The gene encoding the insect nicotinic acetylcholine receptor (nAChR) α6 subunit, target of the bio-insecticide spinosad, is one example of this and expands protein diversity via alternative ...
M Berger (9897587) +12 more
core +6 more sources
Exon skipping in human β-casein
Genomics, 1992 Earlier amino acid alignments of mature beta-caseins showed that the human protein was shifted in alignment relative to other species, with amino acid deletions in the N-terminal region and others inserted in the C-terminal region. Our alignment, based on cDNA sequences and their translation products, has shown that the amino acid deletions correspond ...
R S, Menon +3 more
openaire +2 more sources
Cells, 2023 Genetic variations of CD33 have been implicated as a susceptibility factor of Alzheimer’s disease (AD). A polymorphism on exon 2 of CD33, rs12459419, affects the alternative splicing of this exon.
Riho Komuro +4 more
doaj +1 more source
Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]
Human Gene Therapy, 2014 Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and limited information on natural history and interpretation of appropriate clinical outcome measures ...
A. M. Aartsma Rus +7 more
openaire +5 more sources
Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts. [PDF]
PLoS ONE, 2018 Antisense-mediated exon skipping has made significant progress as a therapeutic platform in recent years, especially in the case of Duchenne muscular dystrophy (DMD).
Joshua Lee +6 more
doaj +1 more source