Results 161 to 170 of about 29,161 (207)

Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15? [PDF]

Int J Mol Sci
Utama S, Cale JM, Mitrpant C, Fletcher S, Wilton SD, Aung-Htut MT.   +5 more
europepmc   +1 more source

Deletion of miR-146a enhances therapeutic protein restoration in model of dystrophin exon skipping. [PDF]

Mol Ther Nucleic Acids
McCormack NM, Calabrese KA, Sun CM, Tully CB, Heier CR, Fiorillo AA.   +5 more
europepmc   +1 more source

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DNA Diagnostics and Exon Skipping

2012
The predominate form of DNA diagnostics remains nucleic acid sequencing in the research and clinical setting. While DNA sequencing allows a mutation to be correctly identified, only RNA sequencing can confirm the effect of that mutation on the resulting mRNA transcript.
Umasuthan, Srirangalingam, Shern L, Chew
openaire   +2 more sources

Exon Skipping Mutations in Neurofibromatosis

2012
Defects at the level of pre-mRNA splicing represent a common source of disease mutations in almost all known diseases with a genetic aetiology. In general, it is commonly accepted that 15% of all pathogenic mutations are caused by splicing defects. However, this is probably a conservative estimate since clinical practice has only recently begun to ...
Buratti, Emanuele, Baralle, Diana
openaire   +3 more sources

Minigenes to Confirm Exon Skipping Mutations

2012
Although several bioinformatic tools exist to predict the effect on splicing of a nucleotide change, experimental verification with minigenes is essential for diagnostic purposes, as well as for revealing disease mechanisms and monitoring therapeutic interventions.
Desviat, Lourdes R., Pérez, Belén, Ugarte, Magdalena   +2 more
openaire   +3 more sources

Skipping of multiple CFTR exons is not a result of single exon omissions

Human Genetics, 1994
The omission of complete exons in a proportion of mature transcripts has been shown for a variety of genes. In the case of the cystic fibrosis transmembrane conductance regulator gene, this phenomenon has previously been observed for exons 4, 9 and 12.
A, Rickers, F, Rininsland, L, Osborne, J, Reiss   +3 more
openaire   +2 more sources

Bioinformatics and Mutations Leading to Exon Skipping

2012
Our knowledge about human genes and the consequences of mutations leading to human genetic diseases has drastically improved over the last few years. It has been recognized that many mutations are indeed pathogenic because they impact the mRNA rather than the protein itself.
Desmet, François-Olivier, Béroud, Christophe   +1 more
openaire   +2 more sources

Overview on DMD Exon Skipping

2012
Antisense-mediated exon skipping to restore the disrupted dystrophin reading frame is currently in clinical trials for Duchenne muscular dystrophy. This chapter describes the rationale of this approach and gives an overview of in vitro and in vivo experiments with antisense oligonucleotides and antisense genes.
openaire   +4 more sources

Exon-skipping therapy for Duchenne muscular dystrophy

The Lancet, 2009
Duchenne muscular dystrophy (DMD) is a lethal muscle disorder caused by mutations in the DMD gene for which no mutation‐targeted therapy has been available thus far. However, exon‐skipping mediated by antisense oligonucleotides (AOs), which are short single‐strand DNAs, has considerable potential for DMD therapy, and clinical trials in DMD patients are
Akinori, Nakamura, Shin'ichi, Takeda
openaire   +3 more sources

Exon Skipping of FcεRIβ for Allergic Diseases

2018
Mast cells are key effector cells in allergic inflammation and consequently are ideal targets for new therapeutics. The high-affinity IgE receptor complex, FcεRI, plays a critical role in mast cell and basophil activation by allergens to drive the immediate allergic inflammatory response.
Greer K, Arthur, Glenn, Cruse
openaire   +3 more sources