Results 191 to 200 of about 127,159 (238)

Optimization of Exon-Skipping Riboswitches and Their Applications to Control Mammalian Cell Fate. [PDF]

ACS Synth Biol
Nomura Y, Kim N, Zhu B, Hamzah M, Zhang H, Yokobayashi Y.   +5 more
europepmc   +1 more source

30 Years Since the Proposal of Exon Skipping Therapy for Duchenne Muscular Dystrophy and the Future of Pseudoexon Skipping. [PDF]

Int J Mol Sci
Matsuo M.
europepmc   +1 more source

Elevated nuclear TDP-43 induces constitutive exon skipping. [PDF]

Mol Neurodegener
Carmen-Orozco RP, Tsao W, Ye Y, Sinha IR, Chang K, Trinh VT, Chung W, Bowden K, Troncoso JC, Blackshaw S, Hayes LR, Sun S, Wong PC, Ling JP.   +13 more
europepmc   +1 more source

Case Report: a novel variant in <i>WT1</i> leads to focal segmental glomerulosclerosis and uterovaginal anomalies through exon skipping. [PDF]

Front Nephrol
Marquez J, O'Sullivan L, Squire AE, Ryan GL, Debiec KE, Amies Oelschlager AM, Adam MP.   +6 more
europepmc   +1 more source

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Genes, 2022
Exon skipping is a promising therapeutic approach. One important condition for this approach is that the exon-skipped form of the gene can at least partially perform the required function and lead to improvement of the phenotype. It is therefore critical
Maude GRELET, Mario Abaji, Marc Bartoli
exaly   +2 more sources

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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

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

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