Evidence map›Paper›PMID 14500808›Full record

ReviewNucleic acids research2003

Structures of trinucleotide repeats in human transcripts and their functional implications.

Anna Jasinska, Gracjan Michlewski, Mateusz de Mezer, Krzysztof Sobczak, Piotr Kozlowski, Marek Napierala, Wlodzimierz J Krzyzosiak

Open access · bronzeAbstract readReview
In one paragraph

Review in Nucleic acids research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
1.7field-weighted citation impact, top 18% 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

38 citing papers in PubMed, 77 citations in OpenAlex.

  1. Review
  2. Article
  3. Development of an AAV-delivered microRNA gene therapy for myotonic dystrophy type 1.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Article
  4. mEMBO reports · 2024
    Article
  5. Article
  6. A Structural Potential of Rare Trinucleotide Repeat Tracts in RNA.International journal of molecular sciences · 2022
    Article
  7. STRs: Ancient Architectures of the Genome beyond the Sequence.Journal of molecular neuroscience : MN · 2021
    Review
  8. Review
  9. Article
  10. Article
  11. Review
  12. Characterization of Duck (Frontiers in genetics · 2018
    Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. 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

7 authors at 1 institution in 1 country.

Anna JasinskaLaboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14 St, 61-704, Poznan, Poland.
Gracjan Michlewski
Mateusz de Mezer
Krzysztof Sobczak
Piotr Kozlowski
Marek Napierala
Wlodzimierz J Krzyzosiak
Institute of Bioorganic Chemistry, Polish Academy of Sciences · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Among the goals of RNA structural and functional genomics is determining structures and establishing the functions of a rich repertoire of simple sequence repeats in transcripts. These repeats are present in transcripts from their 'birth' in the nucleus to their 'death' in cytoplasm and have the potential of being involved in many steps of RNA regulation. The knowledge of their structural features and functional roles will also shed more light on the postulated mechanisms of RNA pathogenesis in a growing list of neurological diseases caused by simple sequence repeat expansions. Here, we discuss several different lines of research to support the hypothesis that the mechanism of RNA pathogenesis may be a more common phenomenon triggered or modulated also by abundant long normal repeats. We propose structures of the repeat regions in transcripts of genes involved in Triplet Repeat Expansion Diseases. We have classified the polymorphic repeat alleles of these genes according to their ability to form hairpin structures in transcripts, and describe the distribution of different structural forms of the repeats in the human population. We have also reported the results of a systematic survey of the human transcriptome to identify mRNAs containing triplet repeats and to classify them according to structural and functional criteria. Based on this knowledge, we discuss the putative wider role of triplet repeat RNA hairpins in human diseases. A hypothetical model is proposed in which long normal RNA hairpins formed by the repeats may also be involved in pathogenesis.

Indexed as

Trinucleotide RepeatsAllelesGenetic VariationHeredodegenerative Disorders, Nervous SystemHumansNucleic Acid ConformationRNA, MessengerTranscription, GeneticTrinucleotide Repeat ExpansionRNA, Messenger

Identifiers

PMID14500808
PMCPMC206467
OpenAlexW2029122003

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.