Results 21 to 30 of about 117,100 (294)
Therapeutic Targeting of Alternative Splicing: A New Frontier in Cancer Treatment
Frontiers in Oncology, 2022 The ability for cells to harness alternative splicing enables them to diversify their proteome in order to carry out complex biological functions and adapt to external and internal stimuli. The spliceosome is the multiprotein-RNA complex charged with the
Anthony J. Murphy +3 more
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Aberrant Alternative Splicing Events in Parkinson's Disease [PDF]
Cell Transplantation, 2013 Alternative splicing (AS) using a sole gene to express multiple transcripts with diverse protein coding sequences and/or RNA regulatory elements raises genomic complexities. In the nervous system, several thousand AS events play important roles in ion transportation, receptor recognition, neurotransmission, memory, and learning.
Ru-Huei Fu +10 more
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Genome Biology, 2021 Background Long-read sequencing of full-length cDNAs enables the detection of structures of aberrant splicing isoforms in cancer cells. These isoforms are occasionally translated, presented by HLA molecules, and recognized as neoantigens. This study used
Miho Oka +11 more
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UPF3 suppresses aberrant spliced mRNA in Arabidopsis [PDF]
The Plant Journal, 2005 SummaryIt has been reported that eukaryotic organisms have a nonsense‐mediated mRNA decay (NMD) system to exclude aberrant mRNAs that produce truncated proteins. NMD is an RNA surveillance pathway that degrades mRNAs possessing premature translation termination codons (PTCs), thus avoiding production of possibly toxic truncated proteins.
Hori K, Watanabe Y
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Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]
, 2010 Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Clark, AJL +4 more
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Alternative splicing in breast cancer
Journal of Bio-X Research, 2023 Alternative splicing allows a gene to produce multiple proteins and is the main source of human proteome diversity. Aberrant regulation of alternative splicing produces proteins with different structures and can lead to altered protein function ...
Xin Wen, Ze Yan, Li Sha
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Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [PDF]
, 2009 Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in ...
BAFFICO AM +8 more
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Aberrant splicing and drug resistance in AML [PDF]
Journal of Hematology & Oncology, 2016 The advent of next-generation sequencing technologies has unveiled a new window into the heterogeneity of acute myeloid leukemia (AML). In particular, recurrent mutations in spliceosome machinery and genome-wide aberrant splicing events have been recognized as a prominent component of this disease.
Rosalia de Necochea-Campion +4 more
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The aberrant expression of the mesenchymal variant of FGFR2 in the epithelial context inhibits autophagy [PDF]
, 2019 Signaling of the epithelial splice variant of fibroblast growth factor receptor 2 (FGFR2b) triggers both differentiation and autophagy, while the aberrant expression of the mesenchymal FGFR2c isoform in epithelial cells induces impaired differentiation ...
Belleudi, Francesca +4 more
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Aberrant RNA splicing and therapeutic opportunities in cancers [PDF]
Cancer Science, 2021 AbstractThere has been accumulating evidence that RNA splicing is frequently dysregulated in a variety of cancers and that hotspot mutations affecting key splicing factors, SF3B1, SRSF2 and U2AF1, are commonly enriched across cancers, strongly suggesting that aberrant RNA splicing is a new class of hallmark that contributes to the initiation and/or ...
Hirofumi Yamauchi +2 more
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