Associated Papers
Interprotomer Communication and Functional Asymmetry in H/ACA snoRNPs.
Panwar HS et al.
Biorxiv : the Preprint Server for Biology, 2025
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM et al.
Npj Genomic Medicine, 2022
36309505 (PubMed )
Supplement: 41525_2022_335_MOESM1_ESM.pdf
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
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf
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
[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: a genetic disorder of many faces.
Kirwan M et al.
Clinical Genetics, 2008
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 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
Functional characterization of telomerase RNA variants found in patients with hematologic disorders.
Ly H et al.
Blood, 2005
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A et al.
Expert Reviews in Molecular Medicine, 2004
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