Cryptic transcripts from a ubiquitous plasmid origin of replication confound tests for cis-regulatory function. [PDF]
, 2012 A vast amount of research on the regulation of gene expression has relied on plasmid reporter assays. In this study, we show that plasmids widely used for this purpose constitutively produce substantial amounts of RNA from a TATA-containing cryptic ...
Hiraoka, Kei +3 more
core +2 more sources
Aberrant Bcl-x splicing in cancer: from molecular mechanism to therapeutic modulation
Journal of Experimental & Clinical Cancer Research, 2021 Bcl-x pre-mRNA splicing serves as a typical example to study the impact of alternative splicing in the modulation of cell death. Dysregulation of Bcl-x apoptotic isoforms caused by precarious equilibrium splicing is implicated in genesis and development ...
Zhihui Dou +10 more
doaj +1 more source
Silent disruption: aberrant splicing in VWD [PDF]
Blood, 2016 In this issue of Blood, Yadegari et al1 report in a patient with type 1 von Willebrand disease (VWD) a novel synonymous von Willebrand factor (VWF) genetic variant and aberrant VWF splicing mechanism leading to VWF mRNA intron retention. The index patient presented with mucosal and provoked bleeding and low VWF level (VWF:Ag) and activity (VWF:GPIb) of
openaire +2 more sources
Retroviral Splicing Suppressor Sequesters a 3′ Splice Site in a 50S Aberrant Splicing Complex [PDF]
Molecular and Cellular Biology, 2005 Retroviral replication requires both spliced and unspliced mRNAs. Splicing suppression of avian retroviral RNA depends in part upon a cis-acting element within the gag gene called the negative regulator of splicing (NRS). The NRS, linked to a downstream intron and exon (NRS-Ad3'), was not capable of splicing in vitro.
Keith E, Giles, Karen L, Beemon
openaire +2 more sources
Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]
, 2016 Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F +9 more
core +1 more source
Global isoform-specific transcript alterations and deregulated networks in clear cell renal cell carcinoma. [PDF]
, 2018 Extensive genome-wide analyses of deregulated gene expression have now been performed for many types of cancer. However, most studies have focused on deregulation at the gene-level, which may overlook the alterations of specific transcripts for a given ...
Girke, Thomas +2 more
core +1 more source
Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease
Frontiers in Immunology, 2021 Alternative splicing (AS) is a complex coordinated transcriptional regulatory mechanism. It affects nearly 95% of all protein-coding genes and occurs in nearly all human organs.
Pingping Ren +17 more
doaj +1 more source
A surge of late-occurring meiotic double-strand breaks rescues synapsis abnormalities in spermatocytes of mice with hypomorphic expression of SPO11 [PDF]
, 2015 Meiosis is the biological process that, after a cycle of DNA replication, halves the cellular chromosome complement, leading to the formation of haploid gametes.
Barchi, Marco +9 more
core +3 more sources
PLoS ONE, 2013 There is a serious problem with the reduction of male reproductive performance of the livestock in the world. We have a hypothesis that the splicing error-caused derivation of aberrant sperm motility-related proteins may be one of its causal factors.
Taichi Noda +3 more
doaj +1 more source
Identification of a novel human E-Cadherin splice variant andassessment of its effects upon EMT-related events [PDF]
, 2018 Epithelial Cadherin (E-cadherin) is involved in calcium-dependent cell-cell adhesion and signal transduction. The E-cadherin decrease/loss is a hallmark of Epithelial to Mesenchymal Transition (EMT), a key event in tumor progression.
Besso, María José +8 more
core +1 more source