Results 21 to 30 of about 205,219 (310)
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay
Frontiers 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
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A quantitative, high-throughput reverse genetic screen reveals novel connections between Pre-mRNA splicing and 5' and 3' end transcript determinants. [PDF]
PLoS 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
FOXP3 interacts with hnRNPF to modulate pre-mRNA alternative splicing [PDF]
, 2018 FOXP3 promotes the development and function of regulatory T cells mainly through regulating the transcription of target genes. RNA alternative splicing has been implicated in a wide range of physiological and pathophysiological processes.
Du, Jianguang +3 more
core +1 more source
eLife, 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
SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]
, 2015 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili +51 more
core +2 more sources
Regulation of alternative pre-mRNA splicing [PDF]
Briefings in Functional Genomics and Proteomics, 2002 The first wave of bioinformatic studies that followed genome and complementary DNA sequencing projects revealed that alternative splicing of messenger RNA precursors (pre-mRNAs) contributes substantially to transcriptome complexity in higher eukaryotes.
Louise, Woodley, Juan, Valcárcel
openaire +2 more sources
Retroelement origins of pre‐mRNA splicing [PDF]
WIREs RNA, 2020 AbstractRecent cryo‐EM structures of a group II intron caught in the process of invading DNA have given new insight into the mechanisms of both splicing and retrotransposition. Conformational dynamics involving the branch‐site helix domain VI are responsible for substrate exchange between the two steps of splicing.
Daniel B. Haack, Navtej Toor
openaire +2 more sources
Cell 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
Environmental Stress and Pre-mRNA Splicing [PDF]
Molecular Plant, 2015 Pre-mRNA splicing is an important step for gene expression regulation in plants in response to abiotic stress. In recent years, RNA sequencing (RNA-seq) based on various next-generation sequencing technologies has been used to study dynamic changes of pre-mRNA splicing under conditions of diverse abiotic stress in several plant species.
Cui, Peng, Xiong, Liming
openaire +3 more sources
Identification of small molecule inhibitors of pre-mRNA splicing [PDF]
, 2014 Background: There is a need for new small molecule pre-mRNA splicing inhibitors as biotools. Results: High throughput screening resulted in the identification of small molecule splicing inhibitors that are active in vitro and in cells.
Gray, David +8 more
core +2 more sources