Evidence map›Paper›PMID 20953213›Full record

ReviewNature reviews. Genetics2010

Mechanisms of trinucleotide repeat instability during human development.

Cynthia T McMurray

Erratum issuedAbstract readReview
In one paragraph

Review in Nature reviews. Genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 278 papers.

0numbers the graph read from it
0cells of the map it votes in
278citing papers in PubMed
14.1field-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

278 citing papers in PubMed, 505 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Slippage reconfiguration of trinucleotide repeat hairpins impedes resolution by human replication protein A.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Recurrent DNA nicks drive massive expansions of (GAA)Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  16. Article
  17. Article
  18. Review
  19. Fructose-2,6-bisphosphate restores DNA repair activity of PNKP and ameliorates neurodegenerative symptoms in Huntington's disease.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  20. Article

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

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Cynthia T McMurrayLawrence Berkeley National Laboratory, Life Sciences Division, 1 Cyclotron Rd, 83R0101, Berkeley, California 94720, USA. ctmcmurray@lbl.gov
Lawrence Berkeley National Laboratory · US

Funding

Transcription-Coupled & Replication-Associated Excision RepairP01CA092584 · NCI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI John A. Tainer · 2001 to 2026
$89.6M
Chemical FingerprintingR01NS060115 · NINDS · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI POLYZOS, ARIS A · 2007 to 2024
$7.7M
TRAFFICKING DEFECTS IN HUNTINGTONS DISEASER01NS040738 · NINDS · MAYO CLINIC ROCHESTER · PI MCMURRAY, CYNTHIA THERESE · 2001 to 2009
$3.4M
Mismatch Repair and DNA expansionR01GM066359 · NIGMS · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI MCMURRAY, CYNTHIA THERESE · 2004 to 2011
$2.9M
Age of Onset and Huntingtons DiseaseR01NS062384 · NINDS · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI MCMURRAY, CYNTHIA THERESE · 2009 to 2010
$1.3M
MT Function and Dysfunction in Single Neurons in VivoRC1NS069177 · NINDS · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI MCMURRAY, CYNTHIA THERESE, NORTHEN, TRENT R. · 2009 to 2010
$1.0M
NCI NIH HHS CA092584NCI NIH HHS P01 CA092584NIGMS NIH HHS GM066359NIGMS NIH HHS R01 GM066359NINDS NIH HHS NS060115NINDS NIH HHS NS062384NINDS NIH HHS NS069177NINDS NIH HHS NS40738NINDS NIH HHS R01 NS040738NINDS NIH HHS R01 NS060115NINDS NIH HHS R01 NS062384NINDS NIH HHS RC1 NS069177
6 · The paper itself

Abstract

Trinucleotide expansion underlies several human diseases. Expansion occurs during multiple stages of human development in different cell types, and is sensitive to the gender of the parent who transmits the repeats. Repair and replication models for expansions have been described, but we do not know whether the pathway involved is the same under all conditions and for all repeat tract lengths, which differ among diseases. Currently, researchers rely on bacteria, yeast and mice to study expansion, but these models differ substantially from humans. We need now to connect the dots among human genetics, pathway biochemistry and the appropriate model systems to understand the mechanism of expansion as it occurs in human disease.

Indexed as

AnimalsChromosomal InstabilityFemaleGrowth and DevelopmentHuman DevelopmentHumansMaleMiceModels, BiologicalSaccharomyces cerevisiaeSpermatogoniaTrinucleotide Repeat ExpansionTrinucleotide Repeats

Identifiers

PMID20953213
PMCPMC3175376
OpenAlexW1970814720

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.