ReviewNucleic acids research2007
Human diseases of telomerase dysfunction: insights into tissue aging.
Review in Nucleic acids research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
What it found
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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.
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.
Who cites it
79 citing papers in PubMed, 156 citations in OpenAlex.
- A natural product telomerase activator as part of a health maintenance program.Rejuvenation research · 2011Trial
- hTERT Increases TRF2 to Induce Telomere Compaction and Extend Cell Replicative Lifespan.Aging cell · 2025Article
- A CRISPR base editing approach for the functional assessment of telomere biology disorder-related genes in human health and aging.Biogerontology · 2024Article
- Article
- Clinical considerations at the intersection of hematopoietic cell transplantation and hereditary hematopoietic malignancy.Frontiers in oncology · 2023Review
- Human genetic analyses of organelles highlight the nucleus in age-related trait heritability.eLife · 2021Article
- Shelterin complex gene: Prognosis and therapeutic vulnerability in cancer.Biochemistry and biophysics reports · 2021Review
- The role of telomerase in the etiology of primary spontaneous pneumothorax.Turk gogus kalp damar cerrahisi dergisi · 2021Article
- Fructose Causes Liver Damage, Polyploidy, and Dysplasia in the Setting of Short Telomeres and p53 Loss.Metabolites · 2021Article
- Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.Brain and behavior · 2021Article
- HuB and HuD repress telomerase activity by dissociating HuR from TERC.Nucleic acids research · 2021Article
- Regulation of human telomerase RNA biogenesis and localization.RNA biology · 2021Review
- Exosomal miR-1255b-5p targets human telomerase reverse transcriptase in colorectal cancer cells to suppress epithelial-to-mesenchymal transition.Molecular oncology · 2020Article
- How metabolic acidosis and kidney disease may accelerate the aging process.European journal of clinical nutrition · 2020Review
- Peripheral blood leukocyte telomere length is associated with survival of sepsis patients.The European respiratory journal · 2020Observational
- Telomere Attrition in Neurodegenerative Disorders.Frontiers in cellular neuroscience · 2020Article
- Telomeres and telomerase: three decades of progress.Nature reviews. Genetics · 2019Review
- HuR regulates telomerase activity through TERC methylation.Nature communications · 2018Article
- A Novel Long Non-Coding RNA in the hTERT Promoter Region Regulates hTERT Expression.Non-coding RNA · 2017Article
- Selection for avian leukosis virus integration sites determines the clonal progression of B-cell lymphomas.PLoS pathogens · 2017Article
19 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
3 authors at 1 institution in 1 country.
Funding
Abstract
There are at least three human diseases that are associated with germ-line mutations of the genes encoding the two essential components of telomerase, TERT and TERC. Heterozygous mutations of these genes have been described for patients with dyskeratosis congenita, bone marrow failure and idiopathic pulmonary fibrosis. In this review, we will detail the clinical similarities and difference of these diseases and review the molecular phenotypes observed. The spectrum of mutations in TERT and TERC varies for these diseases and may in part explain the clinical differences observed. Environmental insults and genetic modifiers that accelerate telomere shortening and increase cell turnover may exaggerate the effects of telomerase haploinsufficiency, contributing to the variability of age of onset as well as tissue-specific organ pathology. A central still unanswered question is whether telomerase dysfunction and short telomeres are a much more prominent factor than previously suspected in other adult-onset, age-related diseases. Understanding the biological effects of these mutations may ultimately lead to novel treatments for these patients.
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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.