Associated Papers
Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis.
Evrard O et al.
Erj Open Research, 2026
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Lee JK et al.
Journal of Clinical Immunology, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
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
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
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
[Hoyeraal-Hreidarsson syndrome with combined immunodeficiency and enterocolitis caused by a DCK1 gene variant].
Yang CR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
Zhang MJ et al.
Brain and Behavior, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Re-equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction.
Sun C et al.
The Embo Journal, 2020
Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.
Vieri M et al.
International Journal of Molecular Sciences, 2020
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Crowley E et al.
Gastroenterology, 2020
Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience.
Lega S et al.
Inflammatory Bowel Diseases, 2020
Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in Dictyostelium Discoideum.
Rodriguez-Centeno J et al.
Cells, 2019
Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Borie R et al.
The European Respiratory Journal, 2019
Candidate genes of idiopathic pulmonary fibrosis: current evidence and research.
Zhou W et al.
The Application of Clinical Genetics, 2016
Telomere-regulating genes and the telomere interactome in familial cancers.
Robles-Espinoza CD et al.
Molecular Cancer Research : Mcr, 2015
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
Lim BC et al.
Gene, 2014
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
Alder JK et al.
Human Mutation, 2013
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
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
Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.
Ashbridge B et al.
Biochemistry, 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
Identification of a novel mutation in DKC1 in dyskeratosis congenita.
Kurnikova M et al.
Pediatric Blood & Cancer, 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: 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 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: 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
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
Sznajer Y et al.
European Journal of Pediatrics, 2003
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
One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).
Heiss NS et al.
Genetic Counseling (geneva, Switzerland), 2001