Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
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
Exploring pseudouridylation: dysregulation in disease and therapeutic potential.
Guillen-Angel M et al.
Current Opinion in Genetics & Development, 2024
Bilateral cytomegalovirus retinitis in a patient with dyskeratosis congenita.
Gao YF et al.
International Journal of Ophthalmology, 2024
Control of protein synthesis through mRNA pseudouridylation by dyskerin.
Pederiva C et al.
Science Advances, 2023
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 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
Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.
Brault ME et al.
Human Molecular Genetics, 2013
p38 (MAPK) stress signalling in replicative senescence in fibroblasts from progeroid and genomic instability syndromes.
Tivey HS et al.
Biogerontology, 2013
Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita.
Bellodi C et al.
The Embo Journal, 2010
Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations.
Gu BW et al.
Febs Letters, 2009
Identification of a novel mutation in DKC1 in dyskeratosis congenita.
Kurnikova M et al.
Pediatric Blood & Cancer, 2009
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
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita.
Wong JM et al.
Human Genetics, 2004
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
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