Results 11 to 20 of about 106,307 (216)

Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency

open access: yesGenome Biology, 2018
Understanding the functional impact of genomic variants is a major goal of modern genetics and personalized medicine. Although many synonymous and non-coding variants act through altering the efficiency of pre-mRNA splicing, it is difficult to predict ...
Scott I. Adamson   +2 more
doaj   +1 more source

The Drosophila splicing factor PSI is phosphorylated by casein kinase II and tousled-like kinase. [PDF]

open access: yesPLoS ONE, 2013
Alternative splicing of pre-mRNA is a highly regulated process that allows cells to change their genetic informational output. These changes are mediated by protein factors that directly bind specific pre-mRNA sequences.
J Matthew Taliaferro   +6 more
doaj   +1 more source

BCAS2 Regulates Delta-Notch Signaling Activity through Delta Pre-mRNA Splicing in Drosophila Wing Development. [PDF]

open access: yesPLoS ONE, 2015
Previously, we showed that BCAS2 is essential for Drosophila viability and functions in pre-mRNA splicing. In this study, we provide strong evidence that BCAS2 regulates the activity of Delta-Notch signaling via Delta pre-mRNA splicing.
Meng-Hsuan Chou   +8 more
doaj   +1 more source

Requirement for highly efficient pre-mRNA splicing during Drosophila early embryonic development

open access: yeseLife, 2014
Drosophila syncytial nuclear divisions limit transcription unit size of early zygotic genes. As mitosis inhibits not only transcription, but also pre-mRNA splicing, we reasoned that constraints on splicing were likely to exist in the early embryo, being ...
Leonardo Gastón Guilgur   +5 more
doaj   +1 more source

The influence of 4-thiouridine labeling on pre-mRNA splicing outcomes.

open access: yesPLoS ONE, 2021
Metabolic labeling is a widely used tool to investigate different aspects of pre-mRNA splicing and RNA turnover. The labeling technology takes advantage of native cellular machineries where a nucleotide analog is readily taken up and incorporated into ...
Jessie A C Altieri, Klemens J Hertel
doaj   +1 more source

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

open access: yesFrontiers in Genetics, 2020
BackgroundFamilial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants.
Sai Wang   +10 more
doaj   +1 more source

A quantitative, high-throughput reverse genetic screen reveals novel connections between Pre-mRNA splicing and 5' and 3' end transcript determinants. [PDF]

open access: yesPLoS Genetics, 2012
Here we present the development and implementation of a genome-wide reverse genetic screen in the budding yeast, Saccharomyces cerevisiae, that couples high-throughput strain growth, robotic RNA isolation and cDNA synthesis, and quantitative PCR to allow
Laura-Oana Albulescu   +6 more
doaj   +1 more source

Quantitative prediction of variant effects on alternative splicing in MAPT using endogenous pre-messenger RNA structure probing

open access: yeseLife, 2022
Splicing is highly regulated and is modulated by numerous factors. Quantitative predictions for how a mutation will affect precursor mRNA (pre-mRNA) structure and downstream function are particularly challenging.
Jayashree Kumar   +7 more
doaj   +1 more source

H3K36 Methylation and the Chromodomain Protein Eaf3 Are Required for Proper Cotranscriptional Spliceosome Assembly

open access: yesCell Reports, 2019
Summary: In the eukaryotic cell, spliceosomes assemble onto pre-mRNA cotranscriptionally. Spliceosome assembly takes place in the context of the chromatin environment, suggesting that the state of the chromatin may affect splicing.
Calvin S. Leung   +6 more
doaj   +1 more source

Interconnections Between RNA-Processing Pathways Revealed by a Sequencing-Based Genetic Screen for Pre-mRNA Splicing Mutants in Fission Yeast

open access: yesG3: Genes, Genomes, Genetics, 2016
Pre-mRNA splicing is an essential component of eukaryotic gene expression and is highly conserved from unicellular yeasts to humans. Here, we present the development and implementation of a sequencing-based reverse genetic screen designed to identify ...
Amy Larson   +2 more
doaj   +1 more source

Home - About - Disclaimer - Privacy