Results 131 to 140 of about 240,839 (324)
Identification of exon skipping events associated with Alzheimer’s disease in the human hippocampus
BMC Medical Genomics, 2019 At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer’s disease (AD).
Seonggyun Han +7 more
semanticscholar +1 more source
A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
Disease Models & Mechanisms, 2019 Limb-girdle muscular dystrophy type 2C is caused by autosomal recessive mutations in the γ-sarcoglycan (SGCG) gene. The most common SGCG mutation is a single nucleotide deletion from a stretch of five thymine residues in SGCG exon 6 (521ΔT). This founder
A. Demonbreun +8 more
semanticscholar +1 more source
CD44 alternative splicing is a sensor of intragenic DNA methylation in tumors [PDF]
arXiv, 2019 DNA methylation (meDNA) is a suspected modulator of alternative splicing, while splicing in turn is involved in tumour formations nearly as frequently as DNA mutations. Yet, the impact of meDNA on tumorigenesis via its effect on splicing has not been thoroughly explored. Here, we find that HCT116 colon carcinoma cells inactivated for the DNA methylases
arxiv
Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
Journal of Personalized Medicine, 2018 Duchenne muscular dystrophy (DMD), a fatal X-linked recessive disorder, is caused mostly by frame-disrupting, out-of-frame deletions in the dystrophin (DMD) gene. Antisense oligonucleotide-mediated exon skipping is a promising therapy for DMD.
Y. Echigoya +3 more
semanticscholar +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
A Machine Learning Strategy to Identity Exonic Splice Enhancers in Human Protein-coding Sequence [PDF]
arXiv, 2004 Background: Exonic splice enhancers are sequences embedded within exons which promote and regulate the splicing of the transcript in which they are located. A class of exonic splice enhancers are the SR proteins, which are thought to mediate interactions between splicing factors bound to the 5' and 3' splice sites.
arxiv
A Gene Prediction Method Based on Statistics and Signal Processing [PDF]
arXiv, 2014 Bioinformatics, as an emerging and rapidly developing interdisciplinary, has become a promising and popular research field in 21st century. Extracting and explaining useful biological information from huge amount of genetic data is an urgent issue in post-genome era. In eukaryotic DNA sequences, gene consists of exons and introns.
arxiv
Genes, 2019 Mutations in CEP290 encoding a centrosomal protein important to cilia formation cause a spectrum of diseases, from isolated retinal dystrophies to multivisceral and sometimes embryo–lethal ciliopathies.
Iris Barny +8 more
semanticscholar +1 more source
Clinical Cancer Research, 2019 Purpose: Although patients with advanced-stage non–small cell lung cancers (NSCLC) harboring MET exon 14 skipping mutations (METex14) often benefit from MET tyrosine kinase inhibitor (TKI) treatment, clinical benefit is limited by primary and acquired ...
J. Rotow +24 more
semanticscholar +1 more source
Molecular Therapy: Nucleic Acids, 2018 Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee +4 more
doaj