Results 1 to 10 of about 603,390 (338)
Journal of Biological Chemistry, 1998 Introns interrupt the continuity of many eukaryal genes, and therefore their removal by splicing is a crucial step in gene expression. Interestingly, even within Eukarya there are at least four splicing mechanisms.
Abelson, John +2 more
core +5 more sources
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
doaj +1 more source
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
doaj +1 more source
Frontiers in Plant Science, 2023 Spliceostatin C (SPC) is a component of a bioherbicide isolated from the soil bacterium Burkholderia rinojensis. The chemical structure of SPC closely resembles spliceostatin A (SPA) which was characterized as an anticancer agent and splicing inhibitor ...
Joanna Bajsa-Hirschel +7 more
doaj +1 more source
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
doaj +1 more source
Frontiers in Genetics, 2022 Ataxia–telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in ATM, which encodes a phosphatidylinositol 3-kinase that responds to ...
Tatiana Maroilley +17 more
doaj +1 more source
Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays
Frontiers in Genetics, 2018 Genetic testing of BRCA1 and BRCA2 identifies a large number of variants of uncertain clinical significance whose functional and clinical interpretations pose a challenge for genetic counseling.
Eugenia Fraile-Bethencourt +5 more
doaj +1 more source
Numerical prediction and experimental analysis of ends-together yarn splicing [PDF]
, 2016 Pneumatic yarn splicing is a technical process for joining two yarn ends together. The process involves injecting compressed air into a splicing chamber. The inlet pressure and chamber slope determine the main parameters affecting this process.
De Meulemeester, Simon +4 more
core +1 more source
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
Frontiers in Genetics, 2019 A relevant fraction of BRCA2 variants is associated with splicing alterations and with an increased risk of hereditary breast and ovarian cancer (HBOC). In this work, we have carried out a thorough study of variants from BRCA2 exons 14 and 15 reported at
Eugenia Fraile-Bethencourt +5 more
doaj +1 more source
Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]
, 2009 Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander +2 more
core +3 more sources