Associated Papers
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
2.7 Å cryo-EM structure of human telomerase H/ACA ribonucleoprotein.
Ghanim GE et al.
Nature Communications, 2024
Telomere biology and ribosome biogenesis: structural and functional interconnections.
Valeeva LR et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 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
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Landscape of the complete RNA chemical modifications in the human 80S ribosome.
Taoka M et al.
Nucleic Acids Research, 2018
Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations.
Xu J et al.
American Journal of Hematology, 2016
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB et al.
Haematologica, 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1.
Singh M et al.
Journal of Molecular Biology, 2015
Telomere-regulating genes and the telomere interactome in familial cancers.
Robles-Espinoza CD et al.
Molecular Cancer Research : Mcr, 2015
GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells.
Iarriccio L et al.
Plos One, 2015
Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.
Thumati NR et al.
Human Mutation, 2013
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.
Bellodi C et al.
Cell Reports, 2013
Defects in mTR stability and telomerase activity produced by the Dkc1 A353V mutation in dyskeratosis congenita are rescued by a peptide from the dyskerin TruB domain.
Machado-Pinilla R et al.
Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2012
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
Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita.
Bellodi C et al.
The Embo Journal, 2010
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
Grozdanov PN et al.
Human Molecular Genetics, 2009
[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
Dyskerin is a component of the Arabidopsis telomerase RNP required for telomere maintenance.
Kannan K et al.
Molecular and Cellular Biology, 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
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
Yamaguchi H et al.
The New England Journal of Medicine, 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
Telomerase dysfunction and dyskeratosis congenita.
Walne AJ et al.
Cytotechnology, 2004
Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis.
Montanaro L et al.
Journal of Clinical Pathology, 2003
Dyskeratosis congenita.
Marrone A et al.
Cellular and Molecular Life Sciences : Cmls, 2003
A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.
Hiramatsu H et al.
Pediatric Hematology and Oncology, 2002
Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines.
Montanaro L et al.
The Journal of Investigative Dermatology, 2002
Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.
Heiss NS et al.
Human Molecular Genetics, 1999
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight SW et al.
American Journal of Human Genetics, 1999
High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
Carrillo J et al.
Blood Cells, Molecules & Diseases, 0