Evidence map›Paper›PMID 20177394›Full record

ReviewNature reviews. Molecular cell biology2010

Repeat instability as the basis for human diseases and as a potential target for therapy.

Arturo López Castel, John D Cleary, Christopher E Pearson

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Molecular cell biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 273 papers.

0numbers the graph read from it
0cells of the map it votes in
273citing papers in PubMed
16.8field-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

273 citing papers in PubMed, 430 citations in OpenAlex.

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  12. Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
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213 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

3 authors at 2 institutions in 1 country.

Arturo López CastelProgram of Genetics & Genome Biology, The Hospital for Sick Children, 101 College Avenue, East Tower 15-312, TMDT Toronto, Ontario, Canada, M5G 1L7.
John D Cleary
Christopher E Pearson
Hospital for Sick Children · CAUniversity of Toronto · CA

Funding

Training and Educational CoreU54NS048843 · NINDS · UNIVERSITY OF ROCHESTER · PI DIRKSEN, ROBERT T · 2003 to 2017
$21.9M
Canadian Institutes of Health ResearchNINDS NIH HHS U54NS48843
6 · The paper itself

Abstract

Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size--targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.

Indexed as

AnimalsBase SequenceDNA DamageDNA RepairDNA ReplicationDrug TherapyGenetic Predisposition to DiseaseGenomic InstabilityHumansMiceModels, BiologicalTranscription, GeneticTrinucleotide Repeat ExpansionTrinucleotide Repeats

Identifiers

PMID20177394
OpenAlexW2037606715

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.