Dyskeratosis Congenita

Savage, Sharon A.; Alter, Blanche P.

doi:10.1016/j.hoc.2009.01.003

Cited by 262Blood disorders and treatmentsTelomeres, Telomerase, and SenescenceImmunodeficiency and Autoimmune Disorders

Dyskeratosis Congenita

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Savage, Sharon A., Alter, Blanche P.·2009·Hematology/Oncology Clinics of North America

DOI 10.1016/j.hoc.2009.01.003PMC PMC2702847

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Abstract

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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TERT's enhancement of Wnt signaling explains its activation of bulge stem cells, since β-catenin overexpression in mouse skin causes a similar stem cell activation phenotype.
“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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“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”
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Authors: Savage, S. A., & Alter, B. P.
Affiliations: National Institutes of Health (US)
Corresponding author: Savage, Sharon A.
ORCID: Savage, Sharon A.
Alter, Blanche P.
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)
DOI: 10.1016/j.hoc.2009.01.003
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Hematology/Oncology Clinics of North America (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health
National Cancer Institute (Z01CP010144)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
Health Sciences › Medicine › Physiology › 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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Dyskeratosis Congenita

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