Evidence map›Paper›PMID 35609925›Full record

ReviewAnnual review of genomics and human genetics2022

The Role of Telomeres in Human Disease.

Mary Armanios

Open access · hybridAbstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
79citing papers in PubMed, 3 pooled it
12.0field-weighted citation impact, top 1% 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

79 citing papers in PubMed, 3 syntheses or guidelines pooled it, 110 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Review
  8. Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026
    Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Telomere Crisis Shapes Cancer Evolution.Cold Spring Harbor perspectives in biology · 2026
    Review
  14. Article
  15. Review
  16. Article
  17. GermlineGenetics in medicine open · 2026
    Article
  18. Review
  19. Article
  20. Article

19 more citing papers are in PubMed but not listed here.

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

1 author at 1 institution in 1 country.

Mary ArmaniosDepartments of Oncology, Genetic Medicine, Pathology, and Molecular Biology and Genetics; Telomere Center at Johns Hopkins; and Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; email: marmani1@jhmi.edu.
Sidney Kimmel Comprehensive Cancer Center · US

Funding

Mechanisms of Telomere-Induced EmphysemaR01HL119476 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI ARMANIOS, MARY Y · 2014 to 2023
$4.5M
Cancer Genetics of Short Telomere SyndromesR01CA225027 · NCI · JOHNS HOPKINS UNIVERSITY · PI ARMANIOS, MARY Y · 2018 to 2022
$2.4M
NCI NIH HHS R01 CA225027NHLBI NIH HHS R01 HL119476
6 · The paper itself

Abstract

Telomere biology was first studied in maize, ciliates, yeast, and mice, and in recent decades, it has informed understanding of common disease mechanisms with broad implications for patient care. Short telomere syndromes are the most prevalent premature aging disorders, with prominent phenotypes affecting the lung and hematopoietic system. Less understood are a newly recognized group of cancer-prone syndromes that are associated with mutations that lengthen telomeres. A large body of new data from Mendelian genetics and epidemiology now provides an opportunity to reconsider paradigms related to the role of telomeres in human aging and cancer, and in some cases, the findings diverge from what was interpreted from model systems. For example, short telomeres have been considered potent drivers of genome instability, but age-associated solid tumors are rare in individuals with short telomere syndromes, and T cell immunodeficiency explains their spectrum. More commonly, short telomeres promote clonal hematopoiesis, including somatic reversion, providing a new leukemogenesis paradigm that is independent of genome instability. Long telomeres, on the other hand, which extend the cellular life span in vitro, are now appreciated to be the most common shared germline risk factor for cancer in population studies. Through this contemporary lens, I revisit here the role of telomeres in human aging, focusing on how short and long telomeres drive cancer evolution but through distinct mechanisms.

Indexed as

NeoplasmsTelomeraseAnimalsGenomic InstabilityGrowth DisordersHumansHypercalcemiaMetabolic DiseasesMiceNephrocalcinosisSyndromeTelomereTelomeraseagingcancerclonal hematopoiesisgenome instabilitypulmonary fibrosistelomerase

Identifiers

PMID35609925
PMCPMC10111244
OpenAlexW4281492131

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.