Results 41 to 50 of about 49,802 (297)
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
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A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]
The American Journal of Human Genetics, 1998 The authors would like to thank the family members. We also thank C. Bonnardel, L. Boutrand, T. Conway, J. Lynch, S. Slominski, and P. Watson, for their expert assistance. This work was supported by program grants from le Comite Departemental de l'Ain de La Ligue contre le Cancer, the Council for Tobacco Research (grant 127DR@), the U.S.
Henry T. Lynch +9 more
openaire +3 more sources
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.
Brian D. Lichty, Suzanne Kamel-Reid
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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
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
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Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]
, 2010 Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Clark, AJL +4 more
core +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
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Molecular Genetics & Genomic Medicine, 2021 Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert ...
Miguel Barroso‐Gil +5 more
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