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
Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.
Togashi Y et al.
Surgery Today, 2025
Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.
Ikoma Y et al.
Leukemia, 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
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Davidson AL et al.
Genome Medicine, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Complex interaction network revealed by mutation of human telomerase 'insertion in fingers' and essential N-terminal domains and the telomere protein TPP1.
Lambert-Lanteigne P et al.
The Journal of Biological Chemistry, 2023
Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.
Yun J et al.
Human Genomics, 2023
A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia.
Gurnari C et al.
Hematological Oncology, 2022
Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia.
Janczar S et al.
Pediatric Blood & Cancer, 2022
Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.
Fiesco-Roa MÓ et al.
Frontiers in Oncology, 2022
Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.
Li R et al.
Nature Communications, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 2021
TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.
Terada K et al.
International Journal of Laboratory Hematology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P et al.
Genome Medicine, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.
Donaires FS et al.
Plos One, 2017
Multiple Mechanisms Contribute to the Cell Growth Defects Imparted by Human Telomerase Insertion in Fingers Domain Mutations Associated with Premature Aging Diseases.
Chu TW et al.
The Journal of Biological Chemistry, 2016
Telomerase mutations in smokers with severe emphysema.
Stanley SE et al.
The Journal of Clinical Investigation, 2015
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia.
Aalbers AM et al.
Leukemia, 2013
Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita.
Nishio N et al.
Pediatric Transplantation, 2011
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
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
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
Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.
Liang J et al.
Haematologica, 2006