Results 61 to 70 of about 619,548 (333)

A unified mechanism for intron and exon definition and back-splicing. [PDF]

open access: yes, 2019
The molecular mechanisms of exon definition and back-splicing are fundamental unanswered questions in pre-mRNA splicing. Here we report cryo-electron microscopy structures of the yeast spliceosomal E complex assembled on introns, providing a view of the ...
Cui, Yanxiang   +12 more
core  

The CUGBP2 splicing factor regulates an ensemble of branchpoints from perimeter binding sites with implications for autoregulation [PDF]

open access: yes, 2009
Alternative pre-mRNA splicing adjusts the transcriptional output of the genome by generating related mRNAs from a single primary transcript, thereby expanding protein diversity.
Dembowski, JA, Grabowski, PJ
core   +5 more sources

Understanding splicing regulation through RNA splicing maps

open access: yesTrends in Genetics, 2011
Alternative splicing is a highly regulated process that greatly increases the proteome diversity and plays an important role in cellular differentiation and disease. Interactions between RNA-binding proteins (RBPs) and pre-mRNA are the principle regulator of splicing decisions.
Witten, Joshua T., Ule, Jernej
openaire   +2 more sources

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

open access: yesFEBS 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

Inter-species association mapping links splice site evolution to METTL16 and SNRNP27K

open access: yeseLife, 2023
Eukaryotic genes are interrupted by introns that are removed from transcribed RNAs by splicing. Patterns of splicing complexity differ between species, but it is unclear how these differences arise.
Matthew T Parker   +3 more
doaj   +1 more source

A conformational RNA zipper promotes intron ejection during non-conventional XBP1 mRNA splicing. [PDF]

open access: yes, 2015
The kinase/endonuclease IRE1 is the most conserved signal transducer of the unfolded protein response (UPR), an intracellular signaling network that monitors and regulates the protein folding capacity of the endoplasmic reticulum (ER).
Acosta-Alvear, Diego   +3 more
core   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS 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

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

open access: yesHuman Genomics
Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays.
Cristina Fortuno   +9 more
doaj   +1 more source

Altered CELF4 splicing factor enhances pancreatic neuroendocrine tumors aggressiveness influencing mTOR and everolimus response

open access: yesMolecular Therapy: Nucleic Acids
Pancreatic neuroendocrine tumors (PanNETs) comprise a heterogeneous group of tumors with growing incidence. Recent molecular analyses provided a precise picture of their genomic and epigenomic landscape. Splicing dysregulation is increasingly regarded as
Emilia Alors-Pérez   +14 more
doaj   +1 more source

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants

open access: yesFrontiers in Oncology, 2018
PCR-based RNA splicing assays are commonly used in diagnostic and research settings to assess the potential effects of variants of uncertain clinical significance in BRCA1 and BRCA2.
Vanessa L. Lattimore   +8 more
doaj   +1 more source

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