Results 51 to 60 of about 260,440 (253)

Interaction of HS1BP3 with cortactin modulates TKS5 localisation, cell secretion and cancer malignancy

open access: yesMolecular Oncology, EarlyView.
Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen   +9 more
wiley   +1 more source

Predicting mutually exclusive spliced exons based on exon length, splice site and reading frame conservation, and exon sequence homology

open access: yesBMC Bioinformatics, 2011
Background Alternative splicing of pre-mature RNA is an important process eukaryotes utilize to increase their repertoire of different protein products.
Hammesfahr Björn   +4 more
doaj   +1 more source

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

open access: yesMolecular Genetics & Genomic Medicine, 2022
Background Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low‐level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation.
Niall Patrick Keegan, Sue Fletcher
doaj   +1 more source

Exon Inclusion Is Dependent on Predictable Exonic Splicing Enhancers [PDF]

open access: yesMolecular and Cellular Biology, 2005
We have previously formulated a list of approximately 2,000 RNA octamers as putative exonic splicing enhancers (PESEs) based on a statistical comparison of human exonic and nonexonic sequences (X. H. Zhang and L. A. Chasin, Genes Dev. 18:1241-1250, 2004).
Xiang H-F, Zhang   +4 more
openaire   +2 more sources

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma‐cfDNA of advanced breast cancer patients: A feasibility proof‐of‐concept study

open access: yesMolecular Oncology, EarlyView.
Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou   +12 more
wiley   +1 more source

Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients

open access: yesJournal of Ophthalmic & Vision Research, 2022
Purpose: Stargardt disease type 1 (STGD1) is a recessively inherited retinal disorder that can cause severe visual impairment. ABCA4 mutations are the usual cause of STGD1.
Ensieh Darbari   +6 more
doaj   +1 more source

Exon repetition in mRNA [PDF]

open access: yesProceedings of the National Academy of Sciences, 1999
The production of different transcripts (transcript heterogeneity) is a feature of many genes that may result in phenotypic variation. Several mechanisms, that occur at both the DNA and RNA level have been shown to contribute to this transcript heterogeneity in mammals, all of which involve either the rearrangement of sequences within a genome or the ...
Frantz, SA   +5 more
openaire   +3 more sources

Stimulator of interferon genes agonist augmented antitumor immunity of osimertinib in Egfr‐mutated lung cancer

open access: yesMolecular Oncology, EarlyView.
Combining osimertinib with the STING agonist ADU‐S100 activates innate and adaptive immunity to overcome the non‐inflamed microenvironment of Egfr‐mutant lung cancer. This combination increases NK and CD8+ T‐cell infiltration, associated with activation of the STING‐IRF3 pathway and local immunogenic cell death.
Jun Nishimura   +19 more
wiley   +1 more source

Identification and evolutionary analysis of novel exons and alternative splicing events using cross-species EST-to-genome comparisons in human, mouse and rat

open access: yesBMC Bioinformatics, 2006
Background Alternative splicing (AS) is important for evolution and major biological functions in complex organisms. However, the extent of AS in mammals other than human and mouse is largely unknown, making it difficult to study AS evolution in mammals ...
Ho Jar-Yi   +3 more
doaj   +1 more source

POEM, A 3-dimensional exon taxonomy and patterns in untranslated exons [PDF]

open access: yesBMC Genomics, 2008
Abstract Background The existence of exons and introns has been known for thirty years. Despite this knowledge, there is a lack of formal research into the categorization of exons. Exon taxonomies used by researchers tend to be selected ad hoc or based on an information poor de-facto standard. Exons have been shown to
Knapp, Keith.   +2 more
openaire   +3 more sources

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