ArticlePLoS genetics2012
Collapse of telomere homeostasis in hematopoietic cells caused by heterozygous mutations in telomerase genes.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 156 papers, 4 of them syntheses that pooled it.
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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.
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Who cites it
156 citing papers in PubMed, 4 syntheses or guidelines pooled it, 257 citations in OpenAlex.
- Telomere length and chronological age across the human lifespan: A systematic review and meta-analysis of 414 study samples including 743,019 individuals.Ageing research reviews · 2023Pooled it
- Telomere length in granulosa cells and leukocytes: a potential marker of female fertility? A systematic review of the literature.Journal of ovarian research · 2020Pooled it
- The relationship between telomere length and mortality risk in non-model vertebrate systems: a meta-analysis.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018Pooled it
- Gender and telomere length: systematic review and meta-analysis.Experimental gerontology · 2014Pooled it
- Telomere shortening correlates with leukemic stem cell burden at diagnosis of chronic myeloid leukemia.Blood advances · 2018Trial
- Circulating cell-free DNA, telomere length and bilirubin in the Vienna Active Ageing Study: exploratory analysis of a randomized, controlled trial.Scientific reports · 2016Trial
- Quantile regression of the relationship between demographic factors and leukocyte telomere length, measured by Southern blot and qPCR.GeroScience · 2026Article
- A Balanced Chromosomal Rearrangement Disrupting the Telomerase RNA Component Gene Causes Short Telomere-Mediated Pulmonary Fibrosis.International journal of molecular sciences · 2026Article
- RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.Nature communications · 2026Article
- Extracurricular physical activity and telomere length in childhood: findings from the INMA study.Pediatric research · 2026Article
- Telomere attrition is common in patients with germlineHaematologica · 2026Article
- Short telomeres in mitochondrial DNA depletion disorders.Mitochondrion · 2026Article
- The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia.British journal of haematology · 2026Article
- GermlineGenetics in medicine open · 2026Article
- Is Telomere Length Optimized in Hatchling Sand Lizards?Evolution & development · 2025Article
- Extension of replicative lifespan by synthetic engineered telomerase RNA in patient induced pluripotent stem cells.Nature biomedical engineering · 2025Article
- Association of leukocyte telomere length with anti-HBsAg antibody titer in Hepatitis-B recovered patients from the Pakistani population.BMC infectious diseases · 2025Article
- Associations between air pollution and relative leukocyte telomere length among northern Swedish adults based on findings from the Betula study.Scientific reports · 2025Article
- Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis.Nature genetics · 2025Article
- cGAS-STING are responsible for premature aging of telomerase-deficient zebrafish.The EMBO journal · 2025Article
96 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
Telomerase activity is readily detectable in extracts from human hematopoietic stem and progenitor cells, but appears unable to maintain telomere length with proliferation in vitro and with age in vivo. We performed a detailed study of the telomere length by flow FISH analysis in leukocytes from 835 healthy individuals and 60 individuals with reduced telomerase activity. Healthy individuals showed a broad range in average telomere length in granulocytes and lymphocytes at any given age. The average telomere length declined with age at a rate that differed between age-specific breakpoints and between cell types. Gender differences between leukocyte telomere lengths were observed for all cell subsets studied; interestingly, this trend could already be detected at birth. Heterozygous carriers for mutations in either the telomerase reverse transcriptase (hTERT) or the telomerase RNA template (hTERC) gene displayed striking and comparable telomere length deficits. Further, non-carrier relatives of such heterozygous individuals had somewhat shorter leukocyte telomere lengths than expected; this difference was most profound for granulocytes. Failure to maintain telomere homeostasis as a result of partial telomerase deficiency is thought to trigger cell senescence or cell death, eventually causing tissue failure syndromes. Our data are consistent with these statements and suggest that the likelihood of similar processes occurring in normal individuals increases with age. Our work highlights the essential role of telomerase in the hematopoietic system and supports the notion that telomerase levels in hematopoietic cells, while limiting and unable to prevent overall telomere shortening, are nevertheless crucial to maintain telomere homeostasis with age.
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Registered trials
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.