Evidence map›Paper›PMID 20171282›Full record

ReviewNeurobiology of disease2010

Epigenetic changes and non-coding expanded repeats.

Masayuki Nakamori, Charles Thornton

Open access · greenAbstract readReview
In one paragraph

Review in Neurobiology of disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
3.0field-weighted citation impact, top 8% 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

20 citing papers in PubMed, 35 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy.Annals of clinical and translational neurology · 2016
    Article
  10. The epigenetics of aging and neurodegeneration.Progress in neurobiology · 2015
    Review
  11. Article
  12. Review
  13. Non-coding RNAs in Alzheimer's disease.Molecular neurobiology · 2013
    Review
  14. Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.Oxidative medicine and cellular longevity · 2013
    Review
  15. Article
  16. Review
  17. Article
  18. Review
  19. Article
  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.

Masayuki NakamoriDepartment of Neurology, University of Rochester Medical Center, Rochester, New York 14642, USA.
Charles Thornton
University of Rochester Medical Center · US

Funding

Training and Educational CoreU54NS048843 · NINDS · UNIVERSITY OF ROCHESTER · PI MOXLEY, RICHARD T · 2003 to 2017
$21.9M
Pathogenesis of Myopathy in Models of Myotonic DystrophyR01AR046806 · NIAMS · UNIVERSITY OF ROCHESTER · PI THORNTON, CHARLES A · 2001 to 2009
$3.1M
RNA-mediated Mechanisms in the Myotonic DystrophiesR01AR049077 · NIAMS · UNIVERSITY OF ROCHESTER · PI THORNTON, CHARLES A · 2002 to 2011
$3.0M
Integrative Pathophysiology of Myotonic DystrophyK24AR048143 · NIAMS · UNIVERSITY OF ROCHESTER · PI THORNTON, CHARLES A · 2002 to 2012
$1.1M
NIAMS NIH HHS AR046806NIAMS NIH HHS AR48143NIAMS NIH HHS K24 AR048143NIAMS NIH HHS R01 AR046806NIAMS NIH HHS R01 AR049077NINDS NIH HHS U54 NS048843NINDS NIH HHS U54NS48843
6 · The paper itself

Abstract

Many neurogenetic disorders are caused by unstable expansions of tandem repeats. Some of the causal mutations are located in non-protein-coding regions of genes. When pathologically expanded, these repeats can trigger focal epigenetic changes that repress the expression of the mutant allele. When the mutant gene is not repressed, the transcripts containing the expanded repeat can give rise to a toxic gain-of-function by the mutant RNA. These two mechanisms, heterochromatin-mediated gene repression and RNA dominance, produce a wide range of neurodevelopmental and neurodegenerative abnormalities. Here we review the mechanisms of gene dysregulation induced by non-coding repeat expansions, and early indications that some of these disorders may prove to be responsive to therapeutic intervention.

Indexed as

Repetitive Sequences, Nucleic AcidAnimalsChromosome DisordersEpigenesis, GeneticHeredodegenerative Disorders, Nervous SystemHumansMutation

Identifiers

PMID20171282
PMCPMC2874091
OpenAlexW2017255898

What OpenQuestion holds

Textmetadata
LicenceTDM
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.