Molecular Therapy: Nucleic Acids, 2017 Antisense-mediated exon skipping is a promising approach for the treatment of Duchenne muscular dystrophy (DMD), a rare life-threatening genetic disease due to dystrophin deficiency.
Ngoc Lu-Nguyen +5 more
doaj +1 more source
A point mutation in the splice donor site of intron 7 in the as2-casein encoding gene of the Mediterranean River buffalo results in an allele-specific exon skipping [PDF]
, 2009 The CSN1S2 cDNA of 10 unrelated Mediterranean River Buffaloes reared in Southern Italy was amplified by RT-PCR, while the region from the 6th to the 8th exon of the CSN1S2 gene was amplified from genomic template.
COLETTA A. +6 more
core +1 more source
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290 [PDF]
, 2018 Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients.
Bertelsen, Mette +16 more
core +3 more sources
Correction to the pathogenic alternative splicing, caused by the common GNB3 c.825C>T allele, using a novel, antisense morpholino [PDF]
, 2016 The very common GNB3 c.825C>T polymorphism (rs5443), is present in approximately half of all human chromosomes. Significantly the presence of the GNB3 825T allele has been strongly associated, with predisposition to essential hypertension ...
Lester, Douglas H. +2 more
core +3 more sources
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials. [PDF]
, 2015 With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M +8 more
core +1 more source
Deleterious c-Cbl Exon Skipping Contributes to Human Glioma
Neoplasia: An International Journal for Oncology Research, 2015 c-Cbl, a RING-type ubiquitin E3 ligase, downregulates various receptor tyrosine kinases (e.g., epidermal growth factor receptor (EGFR)), leading to inhibition of cell proliferation.
Min Woo Seong +10 more
doaj +1 more source
Genome wide comparative analysis of the effects of PRMT5 and PRMT4/CARM1 arginine methyltransferases on the Arabidopsis thaliana transcriptome [PDF]
, 2015 BACKGROUND: Methylation at arginine residues (R) is an important post-translational modification that regulates a myriad of essential cellular processes in eukaryotes, such as transcriptional regulation, RNA processing, signal transduction and DNA repair.
Hernando, Carlos Esteban +3 more
core +1 more source
CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion
Genome Biology, 2017 CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-
Haiwei Mou +16 more
doaj +1 more source
Mutant U2AF1-expressing cells are sensitive to pharmacological modulation of the spliceosome [PDF]
, 2017 Somatic mutations in spliceosome genes are detectable in ∼50% of patients with myelodysplastic syndromes (MDS). We hypothesize that cells harbouring spliceosome gene mutations have increased sensitivity to pharmacological perturbation of the spliceosome.
Carver, Alexa +16 more
core +2 more sources
Predicting the Impact of Alternative Splicing on Plant MADS Domain Protein Function [PDF]
Several genome-wide studies demonstrated that alternative splicing (AS) significantly increases the transcriptome complexity in plants. However, the impact of AS on the functional diversity of proteins is difficult to assess using genome-wide approaches.
Busscher-Lange, J. +5 more
core +2 more sources