ReviewCurrent opinion in genetics & development2015
Transcriptional enhancers: functional insights and role in human disease.
Review in Current opinion in genetics & development, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
18 citing papers in PubMed.
- Transfer learning identifies sequence determinants of cell-type specific regulatory element accessibility.NAR genomics and bioinformatics · 2023Article
- Missing heritability of Wilson disease: a search for the uncharacterized mutations.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A.Nature cell biology · 2022Article
- Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster.Developmental cell · 2022Article
- The importance of considering regulatory domains in genome-wide analyses - the nearest gene is often wrong!Biology open · 2022Review
- Shared Transcriptional Machinery at Homologous Alleles Leads to Reduced Transcription in EarlyFrontiers in cell and developmental biology · 2022Article
- An explainable artificial intelligence approach for decoding the enhancer histone modifications code and identification of novel enhancers in Drosophila.Genome biology · 2021Article
- Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.Cell reports · 2021Article
- Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions.Toxicology · 2020Review
- Functional effects of variation in transcription factor binding highlight long-range gene regulation by epromoters.Nucleic acids research · 2020Article
- Determinants of enhancer and promoter activities of regulatory elements.Nature reviews. Genetics · 2020Review
- Pancreatic Islet Transcriptional Enhancers and Diabetes.Current diabetes reports · 2019Review
- High-throughput identification of human SNPs affecting regulatory element activity.Nature genetics · 2019Article
- Article
- H3K27 acetylation and gene expression analysis reveals differences in placental chromatin activity in fetal growth restriction.Clinical epigenetics · 2018Article
- The Role of STAT Signaling Pathways in the Pathogenesis of Systemic Lupus Erythematosus.Clinical reviews in allergy & immunology · 2017Review
- Global reorganisation ofeLife · 2017Article
- In silico identification of enhancers on the basis of a combination of transcription factor binding motif occurrences.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
In recent years, studies of cis-regulatory mechanisms have evolved from a predominant focus on promoter regions to the realization that spatial and temporal gene regulation is frequently driven by long-range enhancer clusters that operate within chromosomal compartments. This increased understanding of genome function, together with the emergence of technologies that enable whole-genome sequencing of patients' DNAs, open the prospect of dissecting the role of cis-regulatory defects in human disease. In this review we discuss how recent epigenomic studies have provided insights into the function of transcriptional enhancers. We then present examples that illustrate how integrative genomics can help uncover enhancer sequence variants underlying Mendelian and common polygenic human disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.