Exploiting differential RNA splicing patterns: a potential new group of therapeutic targets in cancer
Sign Up to like & getrecommendations! Published in 2018 at "Expert Opinion on Therapeutic Targets"
DOI: 10.1080/14728222.2018.1417390
Abstract: ABSTRACT Introduction: Mutations in genes associated with splicing have been found in hematologic malignancies, but also in solid cancers. Aberrant cancer specific RNA splicing either results from mutations or misexpression of the spliceosome genes directly,… read more here.
Keywords: therapeutic targets; splicing patterns; cancer; rna splicing ... See more keywords
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108307
Abstract: Background Whole-exome sequencing-based diagnosis of rare diseases typically yields 40%–50% of success rate. Precise diagnosis of the patients with neuromuscular disorders (NMDs) has been hampered by locus heterogeneity or phenotypic heterogeneity. We evaluated the utility… read more here.
Keywords: transcriptome based; aberrant splicing; rna seq; based variant ... See more keywords
Posttranslational regulation of the exon skipping machinery controls aberrant splicing in leukemia.
Sign Up to like & getrecommendations! Published in 2020 at "Cancer discovery"
DOI: 10.1158/2159-8290.cd-19-1436
Abstract: Splicing alterations are common in disease, such as cancer, where mutations in splicing factor genes are frequently responsible for aberrant splicing. Here we present an alternative mechanism for splicing regulation in T cell acute lymphoblastic… read more here.
Keywords: leukemia; regulation; machinery; exon skipping ... See more keywords
The link between aberrant splicing and B cell infiltration in breast cancer hormone therapy.
Sign Up to like & getrecommendations! Published in 2022 at "Endocrine-related cancer"
DOI: 10.1530/erc-21-0199
Abstract: Increasing evidence has suggested alternative splicing (AS) is an essential mechanism for tumor initiation and progression. However, the functions of aberrant splicing have not been well understood in hormone therapy-treated breast cancer (HTBC) patients. By… read more here.
Keywords: cancer; cell; htbc patients; aberrant splicing ... See more keywords
Detection of Chimeric Cellular: HIV mRNAs Generated Through Aberrant Splicing in HIV-1 Latently Infected Resting CD4+ T Cells
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular and Infection Microbiology"
DOI: 10.3389/fcimb.2022.855290
Abstract: Latent HIV-1 provirus in infected individuals on suppressive therapy does not always remain transcriptionally silent. Both HIV-1 LTR and human gene promoter derived transcriptional events can contribute HIV-1 sequences to the mRNA produced in the… read more here.
Keywords: hiv; aberrant splicing; chimeric cellular; cellular hiv ... See more keywords
Aberrant splicing in human cancer: An RNA structural code point of view
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2023.1137154
Abstract: Alternative splicing represents an essential process that occurs widely in eukaryotes. In humans, most genes undergo alternative splicing to ensure transcriptome and proteome diversity reflecting their functional complexity. Over the last decade, aberrantly spliced transcripts… read more here.
Keywords: rna structural; aberrant splicing; splicing human; human cancer ... See more keywords
The Molecular Basis of FIX Deficiency in Hemophilia B
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23052762
Abstract: Coagulation factor IX (FIX) is a vitamin K dependent protein and its deficiency causes hemophilia B, an X-linked recessive bleeding disorder. More than 1000 mutations in the F9 gene have been identified in hemophilia B… read more here.
Keywords: aberrant splicing; point mutations; molecular basis; deficiency ... See more keywords