Associated Papers
Interprotomer Communication and Functional Asymmetry in H/ACA snoRNPs.
Panwar HS et al.
Biorxiv : the Preprint Server for Biology, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
The importance of pseudouridylation: human disorders related to the fifth nucleoside.
Keszthelyi TM et al.
Biologia Futura, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
Yang Y et al.
Bmc Urology, 2022
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
Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis.
Ley B et al.
American Journal of Respiratory and Critical Care Medicine, 2019
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
Clonal hematopoiesis in patients with dyskeratosis congenita.
Perdigones N et al.
American Journal of Hematology, 2016
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
A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency.
Goldfarb S et al.
Pediatric Pulmonology, 2013
[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
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
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
Knight SW et al.
Human Genetics, 2001