Associated Papers
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 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
Mechanism of the AAA+ ATPases pontin and reptin in the biogenesis of H/ACA RNPs.
Machado-Pinilla R et al.
Rna (new York, N.y.), 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
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
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 in a 40-year-old patient].
Benoit S et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2006
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
Missense mutation in a patient with X-linked dyskeratosis congenita.
Kraemer DM et al.
Haematologica, 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
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight SW et al.
American Journal of Human Genetics, 1999