Assessing the contribution of alternative splicing to proteome diversity in Arabidopsis thaliana using proteomics data [PDF]
, 2011 Background - Large-scale analyses of genomics and transcriptomics data have revealed that alternative splicing (AS) substantially increases the complexity of the transcriptome in higher eukaryotes.
Severing, E.I. +2 more
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Molecular Therapy: Methods & Clinical Development, 2021 Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene.
Tabatha R. Simmons +5 more
doaj +1 more source
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]
, 2016 Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene +7 more
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Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Journal of Translational Medicine, 2023 Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined.
Melita Kaltak +8 more
doaj +1 more source
Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease [PDF]
, 2018 Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products.
Alzheimer’s Disease Neuroimaging Initiative +8 more
core
Conserved sequence elements associated with exon skipping [PDF]
Nucleic Acids Research, 2003 One of the major forms of alternative splicing, which generates multiple mRNA isoforms differing in the precise combinations of their exon sequences, is exon skipping. While in constitutive splicing all exons are included, in the skipped pattern(s) one or more exons are skipped.
Elana, Miriami +2 more
openaire +2 more sources
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice [PDF]
, 2012 In Duchenne muscular dystrophy, the exon-skipping approach has obtained proof of concept in animal models, myogenic cell cultures, and following local and systemic administration in Duchenne patients.
BASSI, Elena +14 more
core +3 more sources
Comprehensive analysis of mutations in NSCLC patients in a real-world setting
Therapeutic Advances in Medical Oncology, 2022 Background: Aberrant mesenchymal–epithelial transition/hepatocyte growth factor (MET/HGF) regulation presented in a wide variety of human cancers. MET exon 14 skipping, copy number gain (CNG), and kinase domain mutations/arrangements were associated with
Xinghao Ai +9 more
doaj +1 more source
A Role for Pre-mRNA-PROCESSING PROTEIN 40C in the Control of Growth, Development, and Stress Tolerance in Arabidopsis thaliana [PDF]
, 2019 Because of their sessile nature, plants have adopted varied strategies for growing and reproducing in an ever-changing environment. Control of mRNA levels and pre-mRNA alternative splicing are key regulatory layers that contribute to adjust and ...
Careno, Daniel Alejandro +6 more
core +1 more source
ps2, the gene responsible for functional sterility in tomato, due to non-dehiscent anthers, is the result of a mutation in a novel polygalacturonase gene [PDF]
, 2009 The recessive mutation ps-2, which appeared spontaneously in tomato, confers functional male sterility due to non-dehiscent anthers. In this study, we isolated and characterized the PS-2 gene.
Gorguet, B.J.M. +4 more
core +2 more sources