Evidence map›Paper›PMID 30064976›Full record

ArticleBlood2018

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Hemanth Tummala, Laura C Collopy, Amanda J Walne, Alicia Ellison, Shirleny Cardoso, Tekin Aksu, Nese Yarali, Deniz Aslan, Rüştü Fikret Akata, Juliana Teo and 6 more

Abstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Blood, 2018. 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
–field-weighted citation impact
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.

  1. Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026
    Review
  2. Biogenesis and Regulation of Telomerase during Development and Cancer.Cold Spring Harbor perspectives in biology · 2026
    Review
  3. Whole exome sequencing identified two novel mutations ofFrontiers in cell and developmental biology · 2026
    Article
  4. Review
  5. Review
  6. Article
  7. Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. Identification and characterization of novelCold Spring Harbor molecular case studies · 2021
    Article
  13. Molecular mechanisms of telomere biology disorders.The Journal of biological chemistry
    Review
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

16 authors.

Hemanth TummalaCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Laura C CollopyCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Amanda J WalneCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Alicia EllisonCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Shirleny CardosoCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Tekin AksuDepartment of Hematology, University of Health Sciences, Ankara Child Health and Diseases, Oncology Training and Research Hospital, Ankara, Turkey.
Nese YaraliDepartment of Hematology, University of Health Sciences, Ankara Child Health and Diseases, Oncology Training and Research Hospital, Ankara, Turkey.
Deniz AslanSection of Hematology, Department of Pediatrics, and.
Rüştü Fikret AkataDepartment of Ophthalmology, Faculty of Medicine, Gazi University, Ankara, Turkey.
Juliana TeoThe Sydney Children's Hospitals Network, Westmead, NSW, Australia.
Zhou SongyangBCM-Smith Medical Research Building, Baylor College of Medicine, Houston, TX.
Nikolas PontikosUCL Institute of Ophthalmology, University College London, London, United Kingdom.ORCID 0000-0003-1782-4711
Jude FitzgibbonCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom; and.
Kazunori TomitaChromosome Maintenance Group, UCL Cancer Institute, University College London, London, United Kingdom.ORCID 0000-0003-1096-6725
Tom VulliamyCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
Inderjeet DokalCentre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

Funding

Cancer Research UK 12097Medical Research Council MR/P018440/1
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Point MutationShelterin ComplexTelomere-Binding ProteinsAdultAminopeptidasesChildDipeptidyl-Peptidases and Tripeptidyl-PeptidasesDyskeratosis CongenitaFemaleHEK293 CellsHumansMaleModels, MolecularMutation, MissensePedigreePhenotypeACD protein, humanAminopeptidasesDipeptidyl-Peptidases and Tripeptidyl-PeptidasesSerine ProteasesShelterin ComplexTelomere-Binding Proteins

Identifiers

PMID30064976
PMCPMC6293869

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.