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   Articles with "enhancer activity" as a keyword



The effect of genetic variation on promoter usage and enhancer activity

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recommendations! Published in 2017 at "Nature Communications"

DOI: 10.1038/s41467-017-01467-7

Abstract: The identification of genetic variants affecting gene expression, namely expression quantitative trait loci (eQTLs), has contributed to the understanding of mechanisms underlying human traits and diseases. The majority of these variants map in non-coding regulatory… read more here.

Keywords: enhancer activity; promoter usage; genetic variation; promoter ... See more keywords
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Global discovery of lupus genetic risk variant allelic enhancer activity

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recommendations! Published in 2021 at "Nature Communications"

DOI: 10.1038/s41467-021-21854-5

Abstract: Genome-wide association studies of Systemic Lupus Erythematosus (SLE) nominate 3073 genetic variants at 91 risk loci. To systematically screen these variants for allelic transcriptional enhancer activity, we construct a massively parallel reporter assay (MPRA) library… read more here.

Keywords: allelic enhancer; risk loci; enhancer activity; risk ... See more keywords

Identification of novel cis-regulatory elements of Eya1 in Xenopus laevis using BAC recombineering

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recommendations! Published in 2017 at "Scientific Reports"

DOI: 10.1038/s41598-017-15153-7

Abstract: The multifunctional Eya1 protein plays important roles during the development of cranial sensory organs and ganglia, kidneys, hypaxial muscles and several other organs in vertebrates. Eya1 is encoded by a complex locus with candidate cis-regulatory… read more here.

Keywords: xenopus; bac recombineering; xenopus laevis; enhancer activity ... See more keywords

The enhancer activity of long interspersed nuclear element derived microRNA 625 induced by NF-κB

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recommendations! Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-82735-x

Abstract: Transposable elements (TEs) are DNA sequences that cut or introduced into the genome, and they represent a massive portion of the human genome. TEs generate a considerable number of microRNAs (miRNAs) are derived from TEs… read more here.

Keywords: long interspersed; enhancer activity; binding sites; mirna 625 ... See more keywords

Evolved Bmp6 enhancer alleles drive spatial shifts in gene expression during tooth development in sticklebacks

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recommendations! Published in 2021 at "Genetics"

DOI: 10.1093/genetics/iyab151

Abstract: Mutations in enhancers have been shown to often underlie natural variation but the evolved differences in enhancer activity can be difficult to identify in vivo. Threespine sticklebacks (Gasterosteus aculeatus) are a robust system for studying… read more here.

Keywords: spatial shifts; enhancer activity; expression; gene ... See more keywords

Functional characterization of enhancer activity during a long terminal repeat's evolution

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recommendations! Published in 2022 at "Genome Research"

DOI: 10.1101/gr.276863.122

Abstract: Many transposable elements (TEs) contain transcription factor binding sites and are implicated as potential regulatory elements. However, TEs are rarely functionally tested for regulatory activity, which in turn limits our understanding of how TE regulatory… read more here.

Keywords: regulatory activity; functional characterization; activity; enhancer activity ... See more keywords

EAP-LSTM: A Bi-LSTM-based Deep Learning Framework for Quantitatively Predicting Enhancer Activity in Drosophila and Human Cell Lines.

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recommendations! Published in 2025 at "IEEE journal of biomedical and health informatics"

DOI: 10.1109/jbhi.2025.3620986

Abstract: Enhancer activity plays a critical role in gene regulation, influencing various biological processes such as development and disease progression. Accurate prediction of enhancer activity is essential for understanding the mechanisms underlying gene regulation and enhancer… read more here.

Keywords: eap lstm; enhancer activity; cell lines; enhancer ... See more keywords

Abstract B068: Inferring enhancer activity from cell-free DNA fragmentation patterns

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recommendations! Published in 2024 at "Clinical Cancer Research"

DOI: 10.1158/1557-3265.liqbiop24-b068

Abstract: We present a framework for inferring enhancer activity from cell-free DNA (cfDNA) fragmentation patterns, offering a novel feature set for cfDNA analysis that reflects gene regulation. Enhancers are promoter-distal regulatory elements that regulate gene expression… read more here.

Keywords: cancer; fragmentation; dna; enhancer activity ... See more keywords

The activity of human enhancers is modulated by the splicing of their associated lncRNAs

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recommendations! Published in 2022 at "PLoS Computational Biology"

DOI: 10.1371/journal.pcbi.1009722

Abstract: Pervasive enhancer transcription is at the origin of more than half of all long noncoding RNAs in humans. Transcription of enhancer-associated long noncoding RNAs (elncRNA) contribute to their cognate enhancer activity and gene expression regulation… read more here.

Keywords: elncrna splicing; enhancer; activity; human enhancers ... See more keywords