BIISQ: Bayesian nonparametric discovery of Isoforms and Individual Specific Quantification [PDF]
Most human protein-coding genes can be transcribed into multiple possible distinct mRNA isoforms. These alternative splicing patterns encourage molecular diversity and dysregulation of isoform expression plays an important role in disease etiology. However, isoforms are difficult to characterize from short-read RNA-seq data because they share identical
arxiv +1 more source
Isoform-specific functions of PPARγ in gene regulation and metabolism
Peroxisome proliferator-activated receptor γ (PPARγ) is a nuclear receptor that is a vital regulator of adipogenesis, insulin sensitivity, and lipid metabolism. Activation of PPARγ by antidiabetic thiazolidinediones (TZD) reverses insulin resistance but also leads to weight gain that limits the use of these drugs. There are two main PPARγ isoforms, but
Hu, Wenxiang+11 more
openaire +2 more sources
Expression and splicing mediate distinct biological signals
Background Through alternative splicing, most human genes produce multiple isoforms in a cell-, tissue-, and disease-specific manner. Numerous studies show that alternative splicing is essential for development, diseases, and their treatments.
Søren Helweg Dam+2 more
doaj +1 more source
The contribution of Alu exons to the human proteome. [PDF]
BackgroundAlu elements are major contributors to lineage-specific new exons in primate and human genomes. Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important ...
Jiang, Peng+7 more
core +1 more source
SLMAP3 isoform modulates cardiac gene expression and function
The sarcolemmal membrane associated proteins (SLMAPs) belong to the super family of tail anchored membrane proteins which serve diverse roles in biology including cell growth, protein trafficking and ion channel regulation. Mutations in human SLMAP have been linked to Brugada syndrome with putative deficits in trafficking of the sodium channel (Nav1.5)
Jana Mlynarova+6 more
openaire +4 more sources
Computational identification of transcriptionally co-regulated genes, validation with the four ANT isoform genes [PDF]
Abstract Background The analysis of gene promoters is essential to understand the mechanisms of transcriptional regulation required under the effects of physiological processes, nutritional intake or pathologies. In higher eukaryotes, transcriptional regulation implies the recruitment of a set of regulatory proteins ...
Pierre-Yves Dupont+5 more
openaire +8 more sources
Gene isoform specificity through enhancer-associated antisense transcription. [PDF]
Enhancers and antisense RNAs play key roles in transcriptional regulation through differing mechanisms. Recent studies have demonstrated that enhancers are often associated with non-coding RNAs (ncRNAs), yet the functional role of these enhancer:ncRNA ...
Courtney S Onodera+6 more
doaj +1 more source
Network-based Isoform Quantification with RNA-Seq Data for Cancer Transcriptome Analysis [PDF]
High-throughput mRNA sequencing (RNA-Seq) is widely used for transcript quantification of gene isoforms. Since RNA-Seq data alone is often not sufficient to accurately identify the read origins from the isoforms for quantification, we propose to explore protein domain-domain interactions as prior knowledge for integrative analysis with RNA-seq data. We
arxiv +1 more source
Introduction Genes contain multiple promoters that can drive the expression of various transcript isoforms. Although transcript isoforms from the same gene could have diverse and non-overlapping functions, current loss-of-function methodologies are not ...
Rebecca Davies+13 more
doaj +1 more source
Prediction of regulatory targets of alternative isoforms of the epidermal growth factor receptor in a glioblastoma cell line. [PDF]
BackgroundThe epidermal growth factor receptor (EGFR) is a major regulator of proliferation in tumor cells. Elevated expression levels of EGFR are associated with prognosis and clinical outcomes of patients in a variety of tumor types. There are at least
Ardell, David H+7 more
core +3 more sources