Evidence map›Paper›PMID 27826147›Full record

ReviewNature reviews. Molecular cell biology2016

Regulation of disease-associated gene expression in the 3D genome.

Peter Hugo Lodewijk Krijger, Wouter de Laat

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Molecular cell biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 194 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
194citing papers in PubMed, 1 pooled it
22.5field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

194 citing papers in PubMed, 1 synthesis or guideline pooled it, 367 citations in OpenAlex.

  1. Pooled it
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  15. UTERINE FIBROIDS.Physiological reviews · 2025
    Review
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  18. Enhancer regulation in cancer: from epigenetics to mArchives of pharmacal research · 2025
    Review
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  20. Review

134 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors at 2 institutions in 1 country.

Peter Hugo Lodewijk KrijgerHubrecht Institute of The Royal Netherlands Academy of Arts and Sciences (KNAW) and the University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.
Wouter de LaatHubrecht Institute of The Royal Netherlands Academy of Arts and Sciences (KNAW) and the University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.
Royal Netherlands Academy of Arts and Sciences · NLUniversity Medical Center Utrecht · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic variation associated with disease often appears in non-coding parts of the genome. Understanding the mechanisms by which this phenomenon leads to disease is necessary to translate results from genetic association studies to the clinic. Assigning function to this type of variation is notoriously difficult because the human genome harbours a complex regulatory landscape with a dizzying array of transcriptional regulatory sequences, such as enhancers that have unpredictable, promiscuous and context-dependent behaviour. In this Review, we discuss how technological advances have provided increasingly detailed information on genome folding; for example, genome folding forms loops that bring enhancers and target genes into close proximity. We also now know that enhancers function within topologically associated domains, which are structural and functional units of chromosomes. Studying disease-associated mutations and chromosomal rearrangements in the context of the 3D genome will enable the identification of dysregulated target genes and aid the progression from descriptive genetic association results to discovering molecular mechanisms underlying disease.

Indexed as

Gene Expression RegulationTranscription, GeneticAnimalsChromosomesEnhancer Elements, GeneticGenome, HumanHumansNeoplasmsNucleic Acid Conformation

Identifiers

PMID27826147
OpenAlexW2551092411

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.