Evidence map›Paper›PMID 26581521›Full record

ReviewNature structural & molecular biology2015

Molecular basis of telomere dysfunction in human genetic diseases.

Grzegorz Sarek, Paulina Marzec, Pol Margalef, Simon J Boulton

Erratum issuedAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature structural & molecular biology, 2015. 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 52 papers.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed
7.5field-weighted citation impact, top 2% 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

52 citing papers in PubMed, 77 citations in OpenAlex.

  1. Article
  2. Interprotomer communication and functional asymmetry in H/ACA snoRNPs.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
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  4. Review
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  14. A structurally conserved human andProceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  15. Article
  16. Article
  17. Review
  18. Review
  19. Review
  20. Telomere Attrition in Neurodegenerative Disorders.Frontiers in cellular neuroscience · 2020
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Grzegorz SarekDNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
Paulina MarzecDNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
Pol MargalefDNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
Simon J BoultonDNA Damage Response Laboratory, Francis Crick Institute, South Mimms, UK.
The Francis Crick Institute · GB

Funding

Cancer Research UK 11581Wellcome Trust 104558
6 · The paper itself

Abstract

Mutations in genes encoding proteins required for telomere structure, replication, repair and length maintenance are associated with several debilitating human genetic disorders. These complex telomere biology disorders (TBDs) give rise to critically short telomeres that affect the homeostasis of multiple organs. Furthermore, genome instability is often a hallmark of telomere syndromes, which are associated with increased cancer risk. Here, we summarize the molecular causes and cellular consequences of disease-causing mutations associated with telomere dysfunction.

Indexed as

Telomere HomeostasisGenetic Diseases, InbornGenetics, MedicalGenomic InstabilityHumansMutationTelomereTelomere-Binding ProteinsTelomere-Binding Proteins

Identifiers

PMID26581521
OpenAlexW2175936253

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.