ArticleInternational journal of clinical and experimental pathology2009
Telomere dysfunction in human diseases: the long and short of it!
Article in International journal of clinical and experimental pathology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 30 citations in OpenAlex.
- Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes.Nature communications · 2023Article
- TPP1 Enhances the Therapeutic Effects of Transplanted Aged Mesenchymal Stem Cells in Infarcted Hearts via the MRE11/AKT Pathway.Frontiers in cell and developmental biology · 2020Article
- Telomerase Reverse Transcriptase Polymorphism rs2736100: A Balancing Act between Cancer and Non-Cancer Disease, a Meta-Analysis.Frontiers in medicine · 2018Article
- Telomere-associated aging disorders.Ageing research reviews · 2017Review
- Telomere-regulating genes and the telomere interactome in familial cancers.Molecular cancer research : MCR · 2015Review
- Telomerase promoter mutations in cancer: an emerging molecular biomarker?Virchows Archiv : an international journal of pathology · 2014Review
- Cell biology of disease: Telomeropathies: an emerging spectrum disorder.The Journal of cell biology · 2014Review
- Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.International ophthalmology · 2012Article
- Shorter telomeres are associated with obesity and weight gain in the elderly.International journal of obesity (2005) · 2012Article
- Assessing cell and organ senescence biomarkers.Circulation research · 2012Review
- Telomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling.World journal of stem cells · 2011Article
- Phenotypes in mTERT⁺/⁻ and mTERT⁻/⁻ mice are due to short telomeres, not telomere-independent functions of telomerase reverse transcriptase.Molecular and cellular biology · 2011Article
- Telomeric and extra-telomeric roles for telomerase and the telomere-binding proteins.Nature reviews. Cancer · 2011Review
- Medical genetics and epigenetics of telomerase.Journal of cellular and molecular medicine · 2011Review
- Functional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders.International journal of clinical and experimental medicine · 2011Article
- Transcriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-κB factors.PloS one · 2011Article
- Telomeres: structures in need of unwinding.FEBS letters · 2010Review
- Telomerase reverse transcriptase-dependent telomere equilibration mitigates tissue dysfunction in mTert heterozygotes.Disease models & mechanismsArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
It has been over one hundred years since the first reported case of dyskeratosis congenita (DC) and over twenty since the discovery of telomerase, an enzyme that adds telomeric DNA repeats to chromosome ends. Emerging evidence suggests that telomere dysfunction plays an important role in the pathogenesis of DC and other human disorders involving tissues that require rapid repair and renewal capacities. Yet we still do not fully understand how mutations in telomere maintenance genes contribute to disease development in affected individuals. In this review, we provide an up-to-date summary of the topic by discussing the results from genetic screens of patients, in vitro mutational analysis of involved molecules, and genetically engineered mouse models. While these data shed important light on the mechanisms underlying disease development, further investigation, particularly in an in vivo setting, is needed.
Indexed as
Identifiers
19636400PMC2713453W1591467694What OpenQuestion holds
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.