Results 31 to 40 of about 29,161 (207)
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
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy
BMC Medical Genetics, 2007 Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B +3 more
doaj +1 more source
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
Molecules, 2016 In this study, we synthesised a morpholino nucleoside-uridine (MNA-U) phosphoramidite and evaluated the potential of a MNA-modified antisense oligonucleotide (AO) sequences to induce exon 23 skipping in mdx mouse myotubes in vitro towards extending the ...
Suxiang Chen +5 more
doaj +1 more source
Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy. [PDF]
PLoS ONE, 2014 A readily available animal model is essential for rapidly identifying effective treatments for Duchenne muscular dystrophy (DMD), a devastating neuromuscular disorder caused by the lack of dystrophin protein, which results from frame-disrupting mutations
Limin Cao, Gang Han, Ben Gu, HaiFang Yin
doaj +1 more source
Exon Skipping Therapies for Rare Kidney Diseases. [PDF]
J Am Soc NephrolYamamura T, Nozu K.
europepmc +3 more sources