Results 61 to 70 of about 395,684 (337)
Evidence of Extensive Alternative Splicing in Post Mortem Human Brain HTT Transcription by mRNA Sequencing. [PDF]
PLoS ONE, 2015 Despite 20 years since its discovery, the gene responsible for Huntington's Disease, HTT, has still not had its function or transcriptional profile completely characterized. In response to a recent report by Ruzo et al.
Adam T Labadorf, Richard H Myers
doaj +1 more source
Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions
FEBS Letters, EarlyView.We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva +10 more
wiley +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
In silico prediction of splice-altering single nucleotide variants in the human genome
Nucleic Acids Research, 2014 In silico tools have been developed to predict variants that may have an impact on pre-mRNA splicing. The major limitation of the application of these tools to basic research and clinical practice is the difficulty in interpreting the output.
X. Jian, E. Boerwinkle, Xiaoming Liu
semanticscholar +1 more source
PICALM::MLLT10 translocated leukemia
FEBS Letters, EarlyView.This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen +7 more
wiley +1 more source
RNA splicing: a split consensus reveals two major 5′ splice site classes
Open BiologyThe established consensus sequence for human 5′ splice sites masks the presence of two major splice site classes defined by preferential base-pairing potentials with either U5 snRNA loop 1 or the U6 snRNA ACAGA box.
Matthew T. Parker +2 more
doaj +1 more source
Discerning novel splice junctions derived from RNA-seq alignment: a deep learning approach
BMC Genomics, 2018 Background Exon splicing is a regulated cellular process in the transcription of protein-coding genes. Technological advancements and cost reductions in RNA sequencing have made quantitative and qualitative assessments of the transcriptome both possible ...
Yi Zhang +3 more
doaj +1 more source
PLoS Genetics, 2022 Pre-mRNA splicing is an essential step of eukaryotic gene expression carried out by a series of dynamic macromolecular protein/RNA complexes, known collectively and individually as the spliceosome.
Jessie M N G L Suzuki +5 more
doaj +1 more source
Molecular Oncology, EarlyView.A‐to‐I editing of miRNAs, particularly miR‐200b‐3p, contributes to HGSOC progression by enhancing cancer cell proliferation, migration and 3D growth. The edited form is linked to poorer patient survival and the identification of novel molecular targets.
Magdalena Niemira +14 more
wiley +1 more source
Alternative splicing regulation at tandem 3' splice sites [PDF]
Nucleic Acids Research, 2006 Alternative splicing (AS) constitutes a major mechanism creating protein diversity in humans. Previous bioinformatics studies based on expressed sequence tag and mRNA data have identified many AS events that are conserved between humans and mice.
Akerman, Martin, Mandel-Gutfreund, Yael
openaire +2 more sources