| Although there was a great deal of scatter, the conservation index scores decreased with increasing distance from the closest exon. |
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| This indicated that these mutants had point mutations and not exon deletion or insertion. |
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| The sequenced region corresponds to contiguous partial sequences of intron 4 and exon 5 of the bib gene. |
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| Therefore, this gene is a chimera consisting of the first exon of CG11779 and the second and third exons of Adh. |
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| Amplification of exonic regions facilitated this step, since indel polymorphism within exon regions was observed in only one gene. |
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| The second insertion traps an exon of a different gene contained in an intron of the former gene. |
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| The dashed line and lowercase letters represent intron sequences and the solid line and uppercase letters represent exon sequences. |
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| A deletion in exon 6 at codon 260 results in a frameshift mutation and complete loss of hydrolytic activity. |
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| Of these, the recurrent frameshift mutation of HDAC2 in exon 1 has been the most extensively characterized. |
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| A frameshift mutation in exon 80 of COL7A1 gene, c.6527insC, is highly prevalent in the Spanish patient population. |
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| To begin with, these trials will concern the exon skipping and stop codon approaches, developed respectively by Prosensa and PTC Therapeutics. |
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| Sometimes, a three-letter combination starts in one exon and continues into the next. |
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| In this case, one tries to avoid the mutated part of the gene by the exon skipping technique. |
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| A Franco-Italian research team has sought to correct this defect using genetic therapy with the exon jump. |
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| In fact, we are already looking for ways to quickly adapt these therapies to other exon skipping events, concludes Thomas Voit. |
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| A gene therapy approach was also tested: the trans-splicing of the last exon of titin. |
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| To overcome this problem, we tested an approach which exchanged the last exon or the last exons of the titin messenger. |
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| The idea behind exon skipping is an ingenious one: a disease can be cured, or at least ameliorated, not by replacing a defective gene, as is done in gene therapy, but by correcting it. |
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| The dystrophic mouse: Most of the experiments with this aim have been performed with one kind of laboratory animal, the dystrophic mdx mouse, which has a point mutation at base pair 3,185 in exon 23 of its dystrophin gene. |
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| As the structure of the dystrophin gene is known in all details, it is already possible to predict which exon would have to be skipped in order to restore the reading frame after a defined deletion or point mutation. |
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| Their dystrophin gene has a point mutation in the splice receptor site of intron 6 which leads to the deletion of exon 7 in the mRNA, to a frame shift, and a premature stop codon. |
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| Genetic analysis showed homozygotic S53N mutation on MVK gene 3rd exon, and the HIDS diagnosis was made. |
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| Skipping exon 51, the target of both drisapersen and eteplirsen, could help the most children — but still only 13 percent of all patients with the disease. |
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| For now, the question is whether any exon drug will ever be approved. |
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| The announcement was devastating to some parents of boys with muscular dystrophy and has raised questions about whether exon skipping will ever work. |
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| A clever, perhaps counterintuitive solution to this problem: create a drug that causes an additional exon to be deleted, or skipped, in a way that restores the proper reading. |
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| Several pathogenic mutations were identified in its last coding exon. |
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| More precisely, this involves the locoregional injection of AAV8 vectors carrying the small U7 gene encoding an antisense RNA which favorizes exon skipping of the dystrophin gene. |
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| It is therefore essential that these companies fund these studies because today it would take almost the entire Telethon donations to develop, for example, a single drug for a single exon skipping. |
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| Concerning the exon skipping technique, a therapeutic approach implemented for Duchenne muscular dystrophy, Judith Van Deutekom evaluated the situation concerning toxicity studies conducted with morpholinos in animal models. |
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| In the course of this work the scientists discovered a new homozygous recessive form of the disease associated with mutations in exon 12 of the gene encoding elastin in three patients from two related Syrian families. |
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| In the present study, two SNPs were detected, locating in exon 3 of the Mrf4 gene, and in exon 1 of the MyoD gene. |
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| The most promising therapeutic approaches are nonsense mutation read-through and antisense oligonucleotide-induced exon skipping. |
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| The SNP1-Taql locus was located at exon 2 and mutated from G to A, resulting in a missense mutation, CGA to CAA, which could be genotyped by the Taql PCR-RFP method. |
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| The method uses an oligonucleotide having a sequence essentially identical to a guide sequence found in the 5 flanking exon and terminates with a 3 ribonucleoside. |
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| Bioinformatics tools were used to confirm this, and to determine the probable pathogenicity of the novel missense mutation in exon 7 and the 5'UTR sequence change. |
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| General Arthur Exon plus many others suggest this is most likely the crash site of an alien space craft. |
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| Exon 3 encoded a hydrophilic domain containing multiple stop codons that would result in truncation of MOG prior to translation of its transmembrane domain. |
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