Evidence map›Paper›PMID 29517398›Full record

ReviewNucleus (Austin, Tex.)2018

Laminopathy-causing lamin A mutations reconfigure lamina-associated domains and local spatial chromatin conformation.

Nolwenn Briand, Philippe Collas

Open access · goldAbstract readReview
In one paragraph

Review in Nucleus (Austin, Tex.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 6% 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

43 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Downregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  8. Review
  9. Role of lamin A/C on dendritic cell function in antiviral immunity.Cellular and molecular life sciences : CMLS · 2024
    Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Review
  16. Mechanics and functional consequences of nuclear deformations.Nature reviews. Molecular cell biology · 2022
    Review
  17. Review
  18. Article
  19. The Nuclear Lamina.Cold Spring Harbor perspectives in biology · 2022
    Review
  20. Article
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 1 institution in 1 country.

Nolwenn Brianda Department of Molecular Medicine , Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo , Oslo , Norway.
Philippe Collasa Department of Molecular Medicine , Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo , Oslo , Norway.
University of Oslo · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The nuclear lamina contributes to the regulation of gene expression and to chromatin organization. Mutations in A-type nuclear lamins cause laminopathies, some of which are associated with a loss of heterochromatin at the nuclear periphery. Until recently however, little if any information has been provided on where and how lamin A interacts with the genome and on how disease-causing lamin A mutations may rearrange genome conformation. Here, we review aspects of nuclear lamin association with the genome. We highlight recent evidence of reorganization of lamin A-chromatin interactions in cellular models of laminopathies, and implications on the 3-dimensional rearrangement of chromatin in these models, including patient cells. We discuss how a hot-spot lipodystrophic lamin A mutation alters chromatin conformation and epigenetic patterns at an anti-adipogenic locus, and conclude with remarks on links between lamin A, Polycomb and the pathophysiology of laminopathies. The recent findings presented here collectively argue towards a deregulation of large-scale and local spatial genome organization by a subset of lamin A mutations causing laminopathies.

Indexed as

MutationChromatinHumansLamin Type AMusculoskeletal DiseasesNuclear LaminaChromatinLamin Type A3D genomechromatindifferentiationgenome conformationLADlamin A/C

Identifiers

PMID29517398
PMCPMC5973257
OpenAlexW2791117438

What OpenQuestion holds

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LicenceCC BY
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.