The DOI matches its Crossref record; 67 of the 67 references it cites were found in a registry or an index.
Dyskeratosis Congenita
Open accessAbstract
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia, and is associated with high risk of developing aplastic anemia, myelodysplastic syndrome, leukemia, and solid tumors. Patients have very short germline telomeres, and approximately half have mutations in one of six genes encoding proteins that maintain telomere function. Accurate diagnosis of DC is critical to ensure proper clinical management, because patients who have DC and bone marrow failure do not respond to immunosuppressive therapy and may have increased morbidity and mortality associated with hematopoietic stem cell transplantation.
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“The ability of TERT to enhance Wnt signaling explains how TERT activates bulge stem cells since overexpression of b-catenin in mouse skin causes a very similar stem cell-activation phenotype (150-152).”
From Telomeres and telomerase in cancer (2010) · cites this paper as [152]
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Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
Armanios, M. Y., Chen, J. J.-L., Cogan, J. D., Alder, J. K., Ingersoll, R. G., Markin, C., Lawson, W. E., Xie, M., Vulto, I., Phillips, J. A., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa066157 · Cited by 1,357
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A telomerase component is defective in the human disease dyskeratosis congenita
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“found in patients who had AD and AR DC, in patients who had aplastic anemia and no other signs of DC, and in patients who had pulmonary fibrosis.(18,28,29,30,31,32) The variability in clinical features in patients who had TERC or TERT mutations suggests the”
BackgroundShort telomeres are a risk factor for idiopathic pulmonary fibrosis
Alder, J. K., Chen, J. J.-L., Lancaster, L., Danoff, S., Su, S.-C., Cogan, J. D., Vulto, I., Xie, M., Qi, X., Tuder, R. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804280105 · Cited by 805
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Mutations in TERT, the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
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Frenck, R. W., Blackburn, E. H., & Shannon, K. M. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.10.5607 · Cited by 675
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Research works printed but not linked: 1
- Zinsser, 1910, Atrophia Cutis Reticularis cum Pigmentations, Dystrophia Unguium et Leukoplakis oris (Poikioodermia atrophicans vascularis Jacobi), Ikonographia Dermatologica, 5, 219
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Metadata
- Authors
- Savage, S. A., & Alter, B. P.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Savage, Sharon A.
- Venue
- Hematology/Oncology Clinics of North America
- Publisher
- Elsevier BV
- Published
- 2009-04
- Volume
- 23
- Issue
- 2
- Pages
- 215-231
- ISSN
- 0889-8588 (ISSN-L)
- PMC
- PMC2702847
- OpenAlex
- W4237540272
- Cited by
- 262
- References
- 67
- Citations by year
- 2026: 10 · 2025: 18 · 2024: 16 · 2023: 14 · 2022: 19 · 2021: 23 · 2020: 17 · 2019: 8 · 2018: 16 · 2017: 10 · 2016: 14 · 2015: 15 · 2014: 8 · 2013: 19 · 2012: 19
- FWCI
- 10.72
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Hematology/Oncology Clinics of North America (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (Z01CP010144)
- Topics
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- dyskeratosis congenita, bone marrow failure, telomere dysfunction, telomere maintenance genes, nail dystrophy, oral leukoplakia, aplastic anemia, myelodysplastic syndrome, leukemia, solid tumors, hematopoietic stem cell transplantation, immunosuppressive therapy
- MeSH terms
- Bone Marrow Diseases, Humans, Immunosuppression Therapy, Telomere, Hematopoietic Stem Cell Transplantation, Dyskeratosis Congenita
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