Associated Papers
Pathway-Informed Machine Learning Identifies Genetic Predictors of High-Dose Methotrexate-Induced Mucositis in Pediatric Acute Lymphoblastic Leukemia.
Zhang XYC et al.
Clinical Pharmacology and Therapeutics, 2026
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 in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 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
Genetic Mutations Driving Aplastic Anemia: A Focus on Key Allelic Changes.
Burceaga F et al.
European Journal of Haematology, 2025
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.
Baldazzi C et al.
International Journal of Molecular Sciences, 2025
StarTRAC-CYP2D6: a method for CYP2D6 allele-specific copy number determination using digital PCR.
Wang WY et al.
Frontiers in Pharmacology, 2025
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
Mutation analysis of the TERT gene in ovarian cancer patients of the Turkish population by next generation sequencing method.
Capar Gorali B et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2023
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Goldstein AM et al.
Jaad International, 2023
Rare germline alterations of myeloperoxidase predispose to myeloid neoplasms.
Kongkiatkamon S et al.
Leukemia, 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
Germline mutations among Polish patients with acute myeloid leukemia.
Bąk A et al.
Hereditary Cancer in Clinical Practice, 2021
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Reilly CR et al.
Blood, 2021
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.
Baratella E et al.
Diagnostics (basel, Switzerland), 2021
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.
Váraljai R et al.
Cancers, 2021
Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.
Tomlinson CG et al.
Leukemia, 2021
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
Krenke K et al.
Clinical Genetics, 2019
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.
Kapuria D et al.
Hepatology (baltimore, Md.), 2019
Telomerase Variants in Patients with Cirrhosis Awaiting Liver Transplantation.
Chiu V et al.
Hepatology (baltimore, Md.), 2019
Epidemiological, clinical and genetic characterization of aplastic anemia patients in Pakistan.
Akram Z et al.
Annals of Hematology, 2019
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg A et al.
European Journal of Human Genetics : Ejhg, 2018
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.
Przychodzen B et al.
Oncotarget, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.
Donati B et al.
Cancer Medicine, 2017
The hypomorphic TERT A1062T variant is associated with increased treatment-related toxicity in acute myeloid leukemia.
Both A et al.
Annals of Hematology, 2017
Telomerase and telomere biology in hematological diseases: A new therapeutic target.
Allegra A et al.
Leukemia Research, 2017
Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.
Liang WS et al.
Genome Research, 2017
Structural Analysis Reveals the Deleterious Effects of Telomerase Mutations in Bone Marrow Failure Syndromes.
Hoffman H et al.
The Journal of Biological Chemistry, 2017
Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.
Donaires FS et al.
Plos One, 2017
The molecular genetics of the telomere biology disorders.
Bertuch AA
Rna Biology, 2016
Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis.
Mosrati MA et al.
Oncotarget, 2015
Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients with acute myeloid leukemia (AML).
Aref S et al.
Medical Oncology (northwood, London, England), 2014
Telomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.
Zhang Y et al.
Plos One, 2014
Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.
Gramatges MM et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2013
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
Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation.
Ziegler P et al.
Annals of Hematology, 2012
Prostate cancer risk alleles and their associations with other malignancies.
Cooper PR et al.
Urology, 2011
Telomerase mutation: a genetic risk factor for cirrhosis.
Chaiteerakij R et al.
Hepatology (baltimore, Md.), 2011
Constitutional telomerase mutations are genetic risk factors for cirrhosis.
Calado RT et al.
Hepatology (baltimore, Md.), 2011
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
The genetics and clinical manifestations of telomere biology disorders.
Savage SA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Variation at the TERT locus and predisposition for cancer.
Baird DM
Expert Reviews in Molecular Medicine, 2010
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M et al.
Human Mutation, 2009