ArticleBritish journal of haematology2011
Dyskeratosis congenita and the DNA damage response.
Article in British journal of haematology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Telomere biology disorders: time for moving towards the clinic?Trends in molecular medicine · 2022Review
- Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.American journal of human genetics · 2022Article
- Telomere Targeting Approaches in Cancer: Beyond Length Maintenance.International journal of molecular sciences · 2022Review
- Article
- Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside.Mayo Clinic proceedings · 2018Review
- Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening.Redox biology · 2018Article
- Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.Haematologica · 2016Article
- Mammalian telomeres and their partnership with lamins.Nucleus (Austin, Tex.) · 2016Review
- Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.PloS one · 2016Article
- Differential requirements for H/ACA ribonucleoprotein components in cell proliferation and response to DNA damage.Histochemistry and cell biology · 2015Article
- Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.The Journal of clinical investigation · 2015Article
- Acute dyskerin depletion triggers cellular senescence and renders osteosarcoma cells resistant to genotoxic stress-induced apoptosis.Biochemical and biophysical research communications · 2014Article
- ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.American journal of human genetics · 2014Article
- Ribosomopathies: mechanisms of disease.Clinical medicine insights. Blood disorders · 2014Review
- The diagnosis and treatment of dyskeratosis congenita: a review.Journal of blood medicine · 2014Review
- Article
- Defective telomere elongation and hematopoiesis from telomerase-mutant aplastic anemia iPSCs.The Journal of clinical investigation · 2013Article
- Article
- γ-H2AX and other histone post-translational modifications in the clinic.Biochimica et biophysica acta · 2012Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Dyskeratosis congenita (DC) is a heterogeneous bone marrow failure disorder with known mutations in components of telomerase and telomere shelterin. Recent work in a mouse model with a dyskerin mutation has implicated an increased DNA damage response as part of the cellular pathology, while mouse models with Terc and Tert mutations displayed a normal response. To clarify how these contradictory results might apply to DC pathology in humans, we studied the cellular phenotype in primary cells from DC patients of several genetic subtypes, focussing on T lymphocytes to remain close to the haematopoietic system. We observed novel cell cycle abnormalities in conjunction with impaired growth and an increase in apoptosis. Using flow cytometry and confocal microscopy we examined induction of the DNA damage proteins γ-H2AX and 53BP1 and the cell cycle protein TP53 (p53). We found an increase in damage foci at telomeres in lymphocytes and an increase in the basal level of DNA damage in fibroblasts, but crucially no increased response to DNA damaging agents in either cell type. As the response to induced DNA damage was normal and levels of global DNA damage were inconsistent between cell types, DNA damage may contribute differently to the pathology in different tissues.
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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.