Evidence map›Paper›PMID 29974202›Full record

ReviewCurrent genetics2019

Trinucleotide repeat instability during double-strand break repair: from mechanisms to gene therapy.

Valentine Mosbach, Lucie Poggi, Guy-Franck Richard

Open access · greenAbstract readReview
PubMed Publisher
In one paragraph

Review in Current genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.5field-weighted citation impact, top 17% 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

13 citing papers in PubMed, 30 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Review
  6. Review
  7. Structure-forming repeats and their impact on genome stability.Current opinion in genetics & development · 2021
    Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. CRISPR/Cas Applications in Myotonic Dystrophy: Expanding Opportunities.International journal of molecular sciences · 2019
    Review
  13. 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

3 authors at 1 institution in 1 country.

Valentine MosbachDepartment Genomes and Genetics, Institut Pasteur, 25 rue du Dr Roux, 75015, Paris, France.
Lucie PoggiDepartment Genomes and Genetics, Institut Pasteur, 25 rue du Dr Roux, 75015, Paris, France.
Guy-Franck RichardDepartment Genomes and Genetics, Institut Pasteur, 25 rue du Dr Roux, 75015, Paris, France. gfrichar@pasteur.fr.ORCID http://orcid.org/0000-0002-8233-3532
Centre National de la Recherche Scientifique · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Trinucleotide repeats are a particular class of microsatellites whose large expansions are responsible for at least two dozen human neurological and developmental disorders. Slippage of the two complementary DNA strands during replication, homologous recombination or DNA repair is generally accepted as a mechanism leading to repeat length changes, creating expansions and contractions of the repeat tract. The present review focuses on recent developments on double-strand break repair involving trinucleotide repeat tracts. Experimental evidences in model organisms show that gene conversion and break-induced replication may lead to large repeat tract expansions, while frequent contractions occur either by single-strand annealing between repeat ends or by gene conversion, triggering near-complete contraction of the repeat tract. In the second part of this review, different therapeutic approaches using highly specific single- or double-strand endonucleases targeted to trinucleotide repeat loci are compared. Relative efficacies and specificities of these nucleases will be discussed, as well as their potential strengths and weaknesses for possible future gene therapy of these dramatic disorders.

Indexed as

DNA Breaks, Double-StrandedDNA RepairDNAEndonucleasesGenetic TherapyHeredodegenerative Disorders, Nervous SystemHumansModels, GeneticTrinucleotide Repeat ExpansionTrinucleotide RepeatsDNAEndonucleasesBreak-induced replicationCRISPR-Cas9Gene conversionSingle-strand annealingTALENZFN

Identifiers

PMID29974202
OpenAlexW2817737728

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.