Associated Papers
Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.
Balch S et al.
Nature Communications, 2026
Idiopathic Pulmonary Fibrosis: Analysis of Predisposing Variants in Patients with Familial Forms.
Stanghellini I et al.
Biomedicines, 2026
The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.
Margariti A et al.
Life (basel, Switzerland), 2025
Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders.
Gomes WR et al.
Blood Advances, 2025
Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.
Carlund O et al.
Scientific Reports, 2025
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.
de Andrade KC et al.
Npj Genomic Medicine, 2025
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
RecQ helicase expression in patients with telomeropathies.
Silva JPL et al.
Molecular Biology Reports, 2024
Telomeric repeat-containing RNA is dysregulated in acute myeloid leukemia.
Catto LFB et al.
Blood Advances, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Advances in cellular senescence in idiopathic pulmonary fibrosis (Review).
Han S et al.
Experimental and Therapeutic Medicine, 2023
Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.
Groen K et al.
International Journal of Molecular Sciences, 2023
Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants.
Welfer GA et al.
Genes, 2023
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.
Zhang D et al.
The European Respiratory Journal, 2022
The spectrum of paroxysmal nocturnal hemoglobinuria clinical presentation in a Brazilian single referral center.
Pires da Silva BGP et al.
Annals of Hematology, 2022
Molecular genetics of idiopathic pulmonary fibrosis.
Mustafin RN
Vavilovskii Zhurnal Genetiki I Selektsii, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
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
Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis.
Deng Y et al.
Human Mutation, 2018
Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.
Maryoung L et al.
The Journal of Clinical Investigation, 2017
Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.
Newton CA et al.
The European Respiratory Journal, 2016
Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).
DiNardo CD et al.
Clinical Lymphoma, Myeloma & Leukemia, 2016
Two-step mechanism involving active-site conformational changes regulates human telomerase DNA binding.
Tomlinson CG et al.
The Biochemical Journal, 2015
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
In silico discrimination of nsSNPs in hTERT gene by means of local DNA sequence context and regularity.
Doss CG et al.
Journal of Molecular Modeling, 2013
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
Gramatges MM et al.
Blood, 2013
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.
Fernandez BA et al.
Respiratory Research, 2012
hTERT mutations associated with idiopathic pulmonary fibrosis affect telomerase activity, telomere length, and cell growth by distinct mechanisms.
Tsang AR et al.
Aging Cell, 2012
Idiopathic pulmonary fibrosis: update on genetic discoveries.
Garcia CK
Proceedings of the American Thoracic Society, 2011
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.
Diaz de Leon A et al.
Plos One, 2010
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.
Robart AR et al.
The Journal of Biological Chemistry, 2010
Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.
Hills M et al.
Annals of the New York Academy of Sciences, 2009
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
Human diseases of telomerase dysfunction: insights into tissue aging.
Garcia CK et al.
Nucleic Acids Research, 2007
In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.
Khan IA et al.
In Silico Biology, 2006