Associated Papers
Pathological Diagnosis of Thyroid Nodules with Preoperatively Detected TERT Promoter Mutations in the Absence of BRAFV600E: A Bi-Center Series of 52 Cases.
Alzumaili BA et al.
Thyroid : Official Journal of the American Thyroid Association, 2025
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
Fernández-Varas B et al.
Human Molecular Genetics, 2024
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
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 2023
A study of Telomerase Reverse Transcriptase rare variants in myeloid neoplasia.
Gurnari C et al.
Hematological Oncology, 2022
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.
Douglas SPM et al.
Scientific Reports, 2022
Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M et al.
Genes, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Reilly CR et al.
Blood, 2021
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
Benyelles M et al.
Human Molecular Genetics, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
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
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.
Kapuria D 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
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.
Przychodzen B et al.
Oncotarget, 2018
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Zaug AJ et al.
Nucleic Acids Research, 2013
Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia.
Calado RT et al.
Leukemia, 2012
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
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
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
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
Mutations of telomerase complex genes linked to bone marrow failures.
Yamaguchi H
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2007
Human diseases of telomerase dysfunction: insights into tissue aging.
Garcia CK et al.
Nucleic Acids Research, 2007
[Bone marrow failure due to telomerase complex gene mutations].
Yamaguchi H
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2006
Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ et al.
International Journal of Hematology, 2005
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
Yamaguchi H et al.
The New England Journal of Medicine, 2005
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Vulliamy TJ et al.
Blood Cells, Molecules & Diseases, 0