Associated Papers
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
The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.
Qin J et al.
Human Molecular Genetics, 2024
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM et al.
Npj Genomic Medicine, 2022
The biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H et al.
Expert Review of Hematology, 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
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.
Walne AJ et al.
Blood Advances, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradation.
MacNeil DE et al.
Nucleic Acids Research, 2019
A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment.
Sbarrato T et al.
Cell Death & Disease, 2016
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
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
Dyskeratosis congenita and the DNA damage response.
Kirwan M et al.
British Journal of Haematology, 2011
Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.
Ashbridge B et al.
Biochemistry, 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
Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations.
Gu BW et al.
Febs Letters, 2009
Variable expression of Dkc1 mutations in mice.
He J et al.
Genesis (new York, N.y. : 2000), 2009
Dyskeratosis congenita, stem cells and telomeres.
Kirwan M et al.
Biochimica Et Biophysica Acta, 2009
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.
Kirwan M et al.
British Journal of Haematology, 2009
Insight into the Protein Components of the Box H/ACA RNP.
Karijolich J et al.
Current Proteomics, 2008
Dyskeratosis congenita: a genetic disorder of many faces.
Kirwan M et al.
Clinical Genetics, 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
Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ et al.
International Journal of Hematology, 2005
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
Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing.
Mochizuki Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004
Telomerase dysfunction and dyskeratosis congenita.
Walne AJ et al.
Cytotechnology, 2004
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
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
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
Heiss NS et al.
Nature Genetics, 1998