Associated Papers
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
Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.
Wan H et al.
Cell Reports. Medicine, 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
Working title: Molecular involvement of p53-MDM2 interactome in gastrointestinal cancers.
Yedla P et al.
Cell Biochemistry and Function, 2024
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.
Sokkar MF et al.
Journal, Genetic Engineering & Biotechnology, 2023
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
Utilization of cytologic cell blocks for targeted sequencing of solid tumors.
Vormittag-Nocito E et al.
Cancer Medicine, 2023
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
NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas.
Peterson C et al.
International Journal of Molecular Sciences, 2021
Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists.
Crisà E et al.
International Journal of Molecular Sciences, 2021
Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.
Xu J et al.
Scientific Reports, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Whole-Exome Sequencing Reveals Recurrent but Heterogeneous Mutational Profiles in Sporadic WHO Grade 1 Meningiomas.
González-Tablas M et al.
Frontiers in Oncology, 2021
TERT and TERC mutations detected in cryptic dyskeratosis congenita suppress telomerase activity.
Terada K et al.
International Journal of Laboratory Hematology, 2020
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Jungwirth G et al.
Acta Neuropathologica Communications, 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
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Marsh JCW et al.
Blood Advances, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Dumanski JP et al.
Endocrine-related Cancer, 2017
Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.
Donati B et al.
Cancer Medicine, 2017
Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.
de Unamuno Bustos B et al.
Scientific Reports, 2017
Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.
Erman B et al.
Scandinavian Journal of Immunology, 2017
Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21.
Zhang M et al.
Oncotarget, 2016
The molecular genetics of the telomere biology disorders.
Bertuch AA
Rna Biology, 2016
Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci.
Kachuri L et al.
Carcinogenesis, 2016
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Telomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.
Zhang Y et al.
Plos One, 2014
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
Coghlan MA et al.
Bmj Open Respiratory Research, 2014
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
Medical genetics and epigenetics of telomerase.
Koziel JE et al.
Journal of Cellular and Molecular Medicine, 2011
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Kirwan M et al.
Human Mutation, 2009
Genetic and environmental factors influencing human diseases with telomere dysfunction.
Ly H
International Journal of Clinical and Experimental Medicine, 2009
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.
Du HY et al.
Blood, 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