The DOI matches its Crossref record; 121 of the 123 references it cites were found in a registry or an index.
Genomic views of distant-acting enhancers
Open accessAbstract
In contrast to protein-coding sequences, the significance of variation in non-coding DNA in human disease has been minimally explored. A great number of recent genome-wide association studies suggest that non-coding variation is a significant risk factor for common disorders, but the mechanisms by which this variation contributes to disease remain largely obscure. Distant-acting transcriptional enhancers--a major category of functional non-coding DNA--are involved in many developmental and disease-relevant processes. Genome-wide approaches to their discovery and functional characterization are now available and provide a growing knowledge base for the systematic exploration of their role in human biology and disease susceptibility.
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“most genetic variation that contributes to common psychiatric disorders is not in protein-coding regions”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Visel et al., 2009
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“The majority of disease-associated genetic variation lies in non-coding regions (7) enriched for non-coding RNAs and cis regulatory elements that regulate gene expression and splicing of their cognate coding gene targets (8, 9).”
From Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder (2018) · cites this paper as [9]
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Cites
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“However, some observations have challenged such a generalized correlation between sequence conservation and enhancer activity: (1) experimental analysis of individual loci suggested that a large proportion of enhancers cannot be detected by comparative genomics 56, (2) a surprisingly large fraction of sequences in the…”
BackgroundCapturing Chromosome Conformation
Dekker, J., Rippe, K., Dekker, M., & Kleckner, N. (2002) · Science · doi:10.1126/science.1067799 · Cited by 3,652
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Histone H3K27ac separates active from poised enhancers and predicts developmental state
Creyghton, M. P., Cheng, A. W., Welstead, G. G., Kooistra, T., Carey, B. W., Steine, E. J., Hanna, J., Lodato, M. A., Frampton, G. M., Sharp, P. A., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1016071107 · Cited by 4,302
Mapping and analysis of chromatin state dynamics in nine human cell types
Ernst, J., Kheradpour, P., Mikkelsen, T. S., Shoresh, N., Ward, L. D., Epstein, C. B., Zhang, X., Wang, L., Issner, R., Coyne, M., et al. (2011) · Nature · doi:10.1038/nature09906 · Cited by 2,898
A unique chromatin signature uncovers early developmental enhancers in humans
Rada-Iglesias, A., Bajpai, R., Swigut, T., Brugmann, S. A., Flynn, R. A., & Wysocka, J. (2011) · Nature · doi:10.1038/nature09692 · Cited by 2,233
Transcription factors: from enhancer binding to developmental control
Spitz, F., & Furlong, E. E. M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3207 · Cited by 2,227
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Lupiáñez, D. G., Kraft, K., Heinrich, V., Krawitz, P., Brancati, F., Klopocki, E., Horn, D., Kayserili, H., Opitz, J. M., Laxova, R., et al. (2015) · Cell · doi:10.1016/j.cell.2015.04.004 · Cited by 2,132
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Metadata
- Authors
- Visel, A., Rubin, E. M., & Pennacchio, L. A.
- Affiliations
- Lawrence Berkeley National Laboratory (US)
- Venue
- Nature
- Published
- 2009-09
- Volume
- 461
- Issue
- 7261
- Pages
- 199-205
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2923221
- OpenAlex
- W2048263136
- Cited by
- 610
- References
- 123
- Citations by year
- 2026: 8 · 2025: 18 · 2024: 16 · 2023: 26 · 2022: 37 · 2021: 30 · 2020: 36 · 2019: 39 · 2018: 30 · 2017: 34 · 2016: 39 · 2015: 49 · 2014: 48 · 2013: 49 · 2012: 55
- FWCI
- 3.85
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R21HL098940, U01HL066681)
- National Human Genome Research Institute (R01HG003988)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
- Keywords
- enhancers, enhancer function, genome-wide association study, disease susceptibility, human disease genetics
- MeSH terms
- Animals, Enhancer Elements, Genetic, Gene Expression Regulation, Humans, Genome, Human, Evolution, Molecular, Genetic Predisposition to Disease, Genomics
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