Results 31 to 40 of about 619,548 (333)

Expand+Functional selection and systematic analysis of intronic splicing elements identify active sequence motifs and associated splicing factors [PDF]

open access: yes, 2010
Despite the critical role of pre-mRNA splicing in generating proteomic diversity and regulating gene expression, the sequence composition and function of intronic splicing regulatory elements (ISREs) have not been well elucidated.
Berglund, J. Andrew   +4 more
core   +4 more sources

The SC-35 Splicing Factor Interacts with RNA Pol II and A-Type Lamin Depletion Weakens This Interaction

open access: yesCells, 2021
The essential components of splicing are the splicing factors accumulated in nuclear speckles; thus, we studied how DNA damaging agents and A-type lamin depletion affect the properties of these regions, positive on the SC-35 protein.
Soňa Legartová   +5 more
doaj   +1 more source

Spliced-Leader trans-Splicing in Freshwater Planarians [PDF]

open access: yesMolecular Biology and Evolution, 2005
trans-Splicing, in which a spliced-leader (SL) RNA is appended to the most 5' exon of independently transcribed pre-mRNAs, has been described in a wide range of eukaryotes, from protozoans to chordates. Here we describe trans-splicing in the freshwater planarian Schmidtea mediterranea, a free-living member of the phylum Platyhelminthes.
Ricardo M, Zayas   +2 more
openaire   +2 more sources

A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells

open access: yesCells, 2021
Age-related macular degeneration (AMD) is a blinding disease for which most of the patients remain untreatable. Since the disease affects the macula at the center of the retina, a structure specific to the primate lineage, rodent models to study the ...
Laurence Klipfel   +10 more
doaj   +1 more source

N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Reveals an Intronic Residue Critical for Caenorhabditis elegans 3′ Splice Site Function in Vivo

open access: yesG3: Genes, Genomes, Genetics, 2016
Metazoan introns contain a polypyrimidine tract immediately upstream of the AG dinucleotide that defines the 3′ splice site. In the nematode Caenorhabditis elegans, 3′ splice sites are characterized by a highly conserved UUUUCAG/R octamer motif.
Omar A. Itani   +5 more
doaj   +1 more source

Evidence for a nuclear compartment of transcription and splicing located at chromosome domain boundaries [PDF]

open access: yes, 1993
The nuclear topography of splicing snRNPs, mRNA transcripts and chromosome domains in various mammalian cell types are described. The visualization of splicing snRNPs, defined by the Sm antigen, and coiled bodies, revealed distinctly different ...
A Monneron   +64 more
core   +1 more source

Rapid in vitro splicing of coding sequences from genomic DNA by isothermal recombination reaction-based PCR

open access: yesBiotechnology & Biotechnological Equipment, 2016
Cloning of coding sequence (CDS) is an important step for gene function research. Here, we reported a simple and efficient strategy for assembling multiple-exon into an intron-free CDS from genomic DNA (gDNA) by an isothermal recombination reaction-based
Wenxuan Chen   +7 more
doaj   +1 more source

miRNA Enriched in Human Neuroblast Nuclei Bind the MAZ Transcription Factor and Their Precursors Contain the MAZ Consensus Motif

open access: yesFrontiers in Molecular Neuroscience, 2017
While the cytoplasmic function of microRNA (miRNA) as post-transcriptional regulators of mRNA has been the subject of significant research effort, their activity in the nucleus is less well characterized.
Belinda J. Goldie   +11 more
doaj   +1 more source

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

open access: yesFrontiers in Neurology, 2021
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome.
Peter Sparber   +4 more
doaj   +1 more source

Modeling Myeloid Malignancies Using Zebrafish

open access: yesFrontiers in Oncology, 2017
Human myeloid malignancies represent a substantial disease burden to individuals, with significant morbidity and death. The genetic underpinnings of disease formation and progression remain incompletely understood.
Kathryn S. Potts   +4 more
doaj   +1 more source

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