Results 151 to 160 of about 240,839 (324)
Multiple exon skipping strategies to by-pass dystrophin mutations
Neuromuscular Disorders, 2012 Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy. Dystrophin mutations will require the removal of one or more exons to restore the reading frame and in some cases, multiple exon skipping strategies exist to restore dystrophin ...
Adkin, C.F. +6 more
openaire +4 more sources
Faster exon assembly by sparse spliced alignment [PDF]
arXiv, 2007 Assembling a gene from candidate exons is an important problem in computational biology. Among the most successful approaches to this problem is \emph{spliced alignment}, proposed by Gelfand et al., which scores different candidate exon chains within a DNA sequence of length $m$ by comparing them to a known related gene sequence of length n, $m ...
arxiv
The Journal of Pathology, EarlyView.Abstract Variants in the CNGB3 gene, encoding the B3‐subunit of the cone photoreceptor cyclic nucleotide gated channel, are a major cause of autosomal recessive achromatopsia, a rare inherited retinal disease. The mutation spectrum of achromatopsia‐associated CNGB3 variants comprises all types of mutations, including those that are straightforward to ...
Katharina Rawnsley +3 more
wiley +1 more source
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. [PDF]
, 1993 J. C. Lloyd +3 more
openalex +1 more source
Reassessing the Exon-Foldon correspondence using Frustration Analysis [PDF]
arXivProtein folding and evolution are intimately linked phenomena. Here, we revisit the concept of exons as potential protein folding modules across 38 abundant and conserved protein families. Taking advantage of genomic exon-intron organization and extensive protein sequence data, we explore exon boundary conservation and assess their foldon-like behavior
arxiv
Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis [PDF]
, 1993 Bent Lind +3 more
openalex +1 more source
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.Abstract Duchenne muscular dystrophy (DMD), a rare pediatric disease, presents numerous challenges when designing clinical trials, mainly due to the scarcity of available trial participants and the heterogeneity of disease progression. A quantitative clinical trial simulator (CTS) has been developed based on previously published five disease ...
Jordan Wilk +18 more
wiley +1 more source
Molecular Therapy: Nucleic Acids, 2023 Loss-of-function mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of USH2A exon 13 as a promising treatment paradigm for USH2A-associated RP.
Renske T.W. Schellens +8 more
doaj
CPT: Pharmacometrics &Systems Pharmacology, EarlyView.ABSTRACT Duchenne muscular dystrophy (DMD) is characterized by progressive, irreversible muscle damage that usually leads to premature death from cardiac or respiratory failure. Eteplirsen is a phosphorodiamidate morpholino oligomer and the first antisense oligonucleotide (ASO) approved for the treatment of patients with exon 51 skip‐amenable DMD. This
Yogesh Patel +4 more
wiley +1 more source
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
Molecular Therapy: Nucleic Acids, 2022 We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
André Leier +15 more
doaj