Results 31 to 40 of about 30,223 (276)
Exonic mutations and exon skipping: Lessons learned from DFNA5 [PDF]
Human Mutation, 2018 Dysregulation of splicing is a common factor underlying many inherited diseases including deafness. For one deafness-associated gene, DFNA5, perturbation of exon 8 splicing results in a constitutively active truncated protein. To date, only intronic mutations have been reported to cause exon 8 skipping in patients with DFNA5-related deafness.
Kevin T. Booth +8 more
openaire +2 more sources
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
Exon-skipping antisense oligonucleotides for cystic fibrosis therapy [PDF]
Proceedings of the National Academy of Sciences, 2021 Significance Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene, which can lead to respiratory failure. To date, there is no treatment for CF caused by the CFTR- W1282X ...
Young Jin Kim +6 more
openaire +4 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
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
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
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
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
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
doaj +1 more source