Results 1 to 10 of about 325,490 (342)
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact [PDF]
npj Genomic MedicineWe investigated the role of TP53 splicing regulatory elements (SREs) using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-rich intervals: c.573_598, c.618_641, c.653_669 and c.672+14_672 + 36.
Daffodil M. Canson +7 more
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HIV- 1: To Splice Or Not To Splice, That Is THE Question [PDF]
Viruses, 2021 HIV-1 transcribes only one kind of transcript – the full length genomic RNA. To make the mRNA transcripts for the accessory proteins Tat and Rev, the genomic RNA must completely splice. The mRNA transcripts for Vif, Vpr, and Env must splice but not completely.
Ann Emery, Ronald Swanstrom
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Spliced leader trans-splicing [PDF]
Current Biology, 2006 What is spliced leader (SL) trans-splicing? It is an mRNA maturation process, similar to intron splicing, which has been shown to occur in a limited number of eukaryotes. In SL trans-splicing, the cell replaces nucleotides at the 5′ end of some pre-mRNAs with those of a special class of small nuclear RNAs, called SL RNAs. These are short molecules with
Michelle S. Kaye +2 more
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Molecular Oncology, 2022 Despite the initial efficacy of using tyrosine kinase inhibitors of epidermal growth factor receptors (EGFR‐TKIs) for treating patients with non‐small cell lung cancer (NSCLC), resistance inevitably develops.
Anne‐Sophie Hatat +11 more
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The Signature of a Splice [PDF]
International Mathematics Research Notices, 2016 We study the behavior of the signature of colored links [Flo05, CF08] under the splice operation. We extend the construction to colored links in integral homology spheres and show that the signature is almost additive, with a correction term independent of the links. We interpret this correction term as the signature of a generalized Hopf link and give
Degtyarev, Alex +2 more
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Structural basis of intron selection by U2 snRNP in the presence of covalent inhibitors
Nature Communications, 2021 Chemical modulation of intron selection has emerged as a route for cancer therapy. Here, structures of the U2 snRNP’s SF3B module and of prespliceosome- both in complexes with splicing modulators- provide insight into the mechanisms of intron recognition
Constantin Cretu +9 more
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Frontiers in Pediatrics, 2022 BackgroundKyphoscoliotic Ehlers–Danlos syndrome (kEDS; OMIM225400) is a rare autosomal recessive genetic disease caused by variants in the PLOD1 gene. This research was conducted to verify the disease-causing gene in a Chinese neonatal family with the ...
Xiaodan Yan +13 more
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To Splice or Not to Splice, That Is the Treatment [PDF]
Cell Chemical Biology, 2020 In this issue of Cell Chemical Biology, Shibata et al. (2020) rescue expression of CFTR from a defective gene by inhibiting splicing factors required for the inclusion of a pathogenic pseudo exon. Their work highlights the untapped potential of RNA splicing as a therapeutic target.
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Frontiers in Genetics, 2022 Alternative polyadenylation (APA) is widespread among metazoans and has been shown to have important impacts on mRNA stability and protein expression. Beyond a handful of well-studied organisms, however, its existence and consequences have not been well ...
Leonard Schärfen +10 more
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Frontiers in Genetics, 2020 A large fraction of DNA variants impairs pre-mRNA splicing in human hereditary disorders. Crigler-Najjar syndrome (CNS) is characterized by a severe unconjugated hyperbilirubinemia caused by variants in the UGT1A1 gene.
Linda Gailite +5 more
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