ArticleStem cell research2019
Telomere dynamics and hematopoietic differentiation of human DKC1-mutant induced pluripotent stem cells.
Article in Stem cell research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.Haematologica · 2023Trial
- Identification and validation of a prognostic model for HER2-low breast cancer based on unfolded protein response-related genes.Discover oncology · 2025Article
- The role of post-transcriptional modifications during development.Biologia futura · 2023Review
- Recent updates of stem cell-based erythropoiesis.Human cell · 2023Review
- miRNA326-5p Targets DKC1 Gene to Regulate Apoptosis-Related Proteins and Intervene in the Development of Neuroblastoma.Analytical cellular pathology (Amsterdam) · 2023Article
- Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.Molecular genetics & genomic medicine · 2022Article
- Defective hematopoietic differentiation of immune aplastic anemia patient-derived iPSCs.Cell death & disease · 2022Article
- Recent advances in understanding telomere diseases.Faculty reviews · 2022Review
- Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.Frontiers in pediatrics · 2022Article
- Article
- Telomere Dysfunction Activates p53 and Represses HNF4α Expression Leading to Impaired Human Hepatocyte Development and Function.Hepatology (Baltimore, Md.) · 2020Article
- Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.Blood advances · 2020Article
- Bioinformatics Analysis Reveals Biomarkers With Cancer Stem Cell Characteristics in Lung Squamous Cell Carcinoma.Frontiers in genetics · 2020Article
- LncRNA PCAT1 Interacts with DKC1 to Regulate Proliferation, Invasion and Apoptosis in NSCLC Cells via the VEGF/AKT/Bcl2/Caspase9 Pathway.Cell transplantationArticle
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Telomeropathies are a group of phenotypically heterogeneous diseases molecularly unified by pathogenic mutations in telomere-maintenance genes causing critically short telomeres. X-linked dyskeratosis congenita (DC), the prototypical telomere disease, manifested with ectodermal dysplasia, cancer predisposition, and severe bone marrow failure, is caused by mutations in DKC1, encoding a protein responsible for telomerase holoenzyme complex stability. To investigate the effects of pathogenic DKC1 mutations on telomere repair and hematopoietic development, we derived induced pluripotent stem cells (iPSCs) from fibroblasts of a DC patient carrying the most frequent mutation: DKC1 p.A353V. Telomeres eroded immediately after reprogramming in DKC1-mutant iPSCs but stabilized in later passages. The telomerase activity of mutant iPSCs was comparable to that observed in human embryonic stem cells, and no evidence of alternative lengthening of telomere pathways was detected. Hematopoietic differentiation was carried out in DKC1-mutant iPSC clones that resulted in increased capacity to generate hematopoietic colony-forming units compared to controls. Our study indicates that telomerase-dependent telomere maintenance is defective in pluripotent stem cells harboring DKC1 mutation and unable to elongate telomeres, but sufficient to maintain cell proliferation and self-renewal, as well as to support the primitive hematopoiesis, the program that is recapitulated with our differentiation protocol.
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Registered trials
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