Associated Papers
Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.
Asghar N et al.
Biochemical Genetics, 2025
Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.
Sahoo SS et al.
Experimental Hematology, 2025
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
Control of protein synthesis through mRNA pseudouridylation by dyskerin.
Pederiva C et al.
Science Advances, 2023
Thymidine nucleotide metabolism controls human telomere length.
Mannherz W et al.
Nature Genetics, 2023
Unlocking the potential of induced pluripotent stem cells for neonatal disease modeling and drug development.
Liu Z et al.
Seminars in Perinatology, 2023
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM et al.
Npj Genomic Medicine, 2022
Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.
Nagpal N et al.
Nucleic Acids Research, 2022
The biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H et al.
Expert Review of Hematology, 2022
GSK3 inhibition rescues growth and telomere dysfunction in dyskeratosis congenita iPSC-derived type II alveolar epithelial cells.
Fernandez RJ et al.
Elife, 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
A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita.
Yuan C et al.
Clinical, Cosmetic and Investigational Dermatology, 2022
Landscape of the complete RNA chemical modifications in the human 80S ribosome.
Taoka M et al.
Nucleic Acids Research, 2018
Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins.
Olivieri C et al.
Pediatric Reports, 2017
Enhancing a Wnt-Telomere Feedback Loop Restores Intestinal Stem Cell Function in a Human Organotypic Model of Dyskeratosis Congenita.
Woo DH et al.
Cell Stem Cell, 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 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
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
Alder JK et al.
Human Mutation, 2013
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.
Bellodi C et al.
Cell Reports, 2013
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
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
Agarwal S et al.
Nature, 2010
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Li JG et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.
Du HY et al.
Blood, 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
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
Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.
Wong JM et al.
Genes & Development, 2006
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Vulliamy TJ et al.
Blood, 2006
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A et al.
Expert Reviews in Molecular Medicine, 2004