Results 291 to 300 of about 49,915 (319)

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C. [PDF]

J Hum Genet
Zaki MS, Abdel-Ghafar SF, Abdel-Hamid MS.   +2 more
europepmc   +1 more source

918. Rescue of Dystrophin in the GRMD Dog by Multi-Exon Skipping Using Engineered U7 snRNAs

, 2006
Adeline Vulin, Aurélie Goyenvalle, Inès Barthélémy, France Leturcq, Jean‐Claude Kaplan, Olivier Danos, Stéphane Blot, Luis Garcı́a   +7 more
openalex   +1 more source

Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study. [PDF]

J Neuromuscul Dis
Nicolau S, Malhotra J, Kaler M, Magistrado-Coxen P, Iammarino MA, Reash NF, Frair EC, Wijeratne S, Kelly BJ, White P, Lowes LP, Waldrop MA, Flanigan KM.   +12 more
europepmc   +1 more source

Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G). [PDF]

Ann Lab Med
Kim J, Yu J, Lee S, Kim S, Lee IS, Lee W, Chun S.   +6 more
europepmc   +1 more source

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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   +4 more sources

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.
Shern L. Chew, Umasuthan Srirangalingam
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   +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
Shin'ichi Takeda, Akinori Nakamura
openaire   +5 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.
Glenn Cruse, Greer Arthur
openaire   +3 more sources