Associated Papers
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
TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.
Yu G et al.
Journal of Medical Case Reports, 2025
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.
Zhang D et al.
The European Respiratory Journal, 2022
Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.
Quaio CRD'C et al.
Scientific Reports, 2022
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.
Tomlinson CG et al.
Leukemia, 2021
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
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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.
Kapuria D et al.
Hepatology (baltimore, Md.), 2019
Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.
Maryoung L et al.
The Journal of Clinical Investigation, 2017
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Collopy LC et al.
Blood, 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
Insights into diseases of human telomerase from dynamical modeling.
Flores SC et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2013
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
A spectrum of severe familial liver disorders associate with telomerase mutations.
Calado RT et al.
Plos One, 2009
Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.
Calado RT et al.
European Journal of Clinical Investigation, 2009
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M et al.
Human Mutation, 2009
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
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
Calado RT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Vulliamy TJ et al.
Biochimie, 2008
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Marrone A et al.
Blood, 2007
Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
Xin ZT et al.
Blood, 2007
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