Associated Papers
Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.
Evrard O et al.
Erj Open Research, 2026
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.
Sahoo SS et al.
Experimental Hematology, 2025
Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L et al.
Blood Cells, Molecules & Diseases, 2024
2.7 Å cryo-EM structure of human telomerase H/ACA ribonucleoprotein.
Ghanim GE et al.
Nature Communications, 2024
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM et al.
Npj Genomic Medicine, 2022
Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.
Wang L et al.
Frontiers in Pediatrics, 2022
Diagnostic utility of telomere length testing in a hospital-based setting.
Alder JK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Concise Review: Getting to the Core of Inherited Bone Marrow Failures.
Adam S et al.
Stem Cells (dayton, Ohio), 2017
Clonal hematopoiesis in patients with dyskeratosis congenita.
Perdigones N et al.
American Journal of Hematology, 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.
Gu BW et al.
Plos One, 2015
The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.
Zeng XL et al.
Human Molecular Genetics, 2012
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
Parry EM et al.
Journal of Medical Genetics, 2011
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Li JG et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.
Du HY et al.
Blood, 2009
Identification of a novel mutation in DKC1 in dyskeratosis congenita.
Kurnikova M et al.
Pediatric Blood & Cancer, 2009
Dyskeratosis congenita: a genetic disorder of many faces.
Kirwan M et al.
Clinical Genetics, 2008
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.
de la Fuente J et al.
Pediatric Transplantation, 2007
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Vulliamy TJ et al.
Blood, 2006
Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.
Kanegane H et al.
British Journal of Haematology, 2005
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A et al.
Expert Reviews in Molecular Medicine, 2004
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita.
Wong JM et al.
Human Genetics, 2004