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
Regulation of translation by ribosomal RNA pseudouridylation.
Zhao Y et al.
Science Advances, 2023
The importance of pseudouridylation: human disorders related to the fifth nucleoside.
Keszthelyi TM et al.
Biologia Futura, 2023
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
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
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 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
Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.
Watanabe M et al.
Journal of Medical Case Reports, 2019
Structure-function relationships of archaeal Cbf5 during in vivo RNA-guided pseudouridylation.
Majumder M et al.
Rna (new York, N.y.), 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
Telomere-regulating genes and the telomere interactome in familial cancers.
Robles-Espinoza CD et al.
Molecular Cancer Research : Mcr, 2015
Dyskeratosis congenita and the DNA damage response.
Kirwan M et al.
British Journal of Haematology, 2011
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
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
Pearson T et al.
American Journal of Medical Genetics. Part A, 2008
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: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Substrate RNA positioning in the archaeal H/ACA ribonucleoprotein complex.
Liang B et al.
Nature Structural & Molecular Biology, 2007
Mutations of telomerase complex genes linked to bone marrow failures.
Yamaguchi H
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2007
[Bone marrow failure due to telomerase complex gene mutations].
Yamaguchi H
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2006
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
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 DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
Cossu F et al.
British Journal of Haematology, 2002