Evidence map›Paper›PMID 23732052›Full record

ReviewTranslational research : the journal of laboratory and clinical medicine2013

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Maria M Gramatges, Alison A Bertuch

Open access · greenAbstract readReview
In one paragraph

Review in Translational research : the journal of laboratory and clinical medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed
5.6field-weighted citation impact, top 3% 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

46 citing papers in PubMed, 88 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Review
  19. Article
  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

2 authors at 1 institution in 1 country.

Maria M GramatgesSection of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Tex.
Alison A Bertuch
Baylor College of Medicine · US

Funding

PEDIATRIC ONCOLOGY CLINICAL RESEARCH TRAINING PROGRAMK12CA090433 · NCI · BAYLOR COLLEGE OF MEDICINE · PI CARL E ALLEN, Donald W. Parsons · 2002 to 2026
$18.5M
Germline Telomere Biology Defects in Pediatric and Young Adult Acute Myeloid LeukK23CA158148 · NCI · BAYLOR COLLEGE OF MEDICINE · PI GRAMATGES, MARIA MONICA · 2012 to 2014
$507k
NCI NIH HHS 1K23CA158148-01A1NCI NIH HHS K12 CA090433NCI NIH HHS K23 CA158148
6 · The paper itself

Abstract

Telomeres are DNA-protein structures that form a protective cap on chromosome ends. As such, they prevent the natural ends of linear chromosomes from being subjected to DNA repair activities that would result in telomere fusion, degradation, or recombination. Both the DNA and protein components of the telomere are required for this essential function, because insufficient telomeric DNA length, loss of the terminal telomeric DNA structure, or deficiency of key telomere-associated factors may elicit a DNA damage response and result in cellular senescence or apoptosis. In the setting of failed checkpoint mechanisms, such DNA-protein defects can also lead to genomic instability through telomere fusions or recombination. Thus, as shown in both model systems and in humans, defects in telomere biology are implicated in cellular and organismal aging as well as in tumorigenesis. Bone marrow failure and malignancy are 2 life-threatening disease manifestations in the inherited telomere biology disorder dyskeratosis congenita. We provide an overview of basic telomere structure and maintenance. We outline the telomere biology defects observed in dyskeratosis congenita, focusing on recent discoveries in this field. Last, we review the evidence of how telomere biology may impact sporadic aplastic anemia and the risk for various cancers.

Indexed as

Telomere ShorteningAgingAnemia, AplasticDyskeratosis CongenitaHumansMutationNeoplasmsRisk FactorsShelterin ComplexTelomeraseTelomere-Binding ProteinsTranslational Research, BiomedicalACD protein, humanShelterin ComplexTelomeraseTelomere-Binding Proteinsacute myeloid leukemiaAMLbase pairsbpchronic lymphocytic leukemiaCLLconserved telomere maintenance component 1CSTCTC1CTC1/STN1/TEN1DCdyskeratosis congenitaFAFanconi anemiaFISHfluorescence in situ hybridizationMDSmyelodysplastic syndromeodds over expected ratioO/EPOT1protection of telomeres 1Q-PCRquantitative polymerase chain reactionRAP1regulator of telomere elongation helicase 1repressor/activator protein 1RTEL1STN1suppressor of cdc13-1telomerase reverse transcriptasetelomerase RNA componenttelomeric pathway with STN1telomeric repeat factor 1telomeric repeat factor 2TEN1TERCTERF1 (TRF1)-interacting nuclear factor 2TERTTIN2TIN2-interacting protein 1TINF2TPP1TRF1TRF1-interacting protein 2TRF2

Identifiers

PMID23732052
PMCPMC3834083
OpenAlexW2054461612

What OpenQuestion holds

Textmetadata
LicenceTDM
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.