Associated Papers
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 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
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
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
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Li JG et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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: 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 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
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight SW et al.
American Journal of Human Genetics, 1999