Associated Papers
Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.
Smoom R et al.
Nucleic Acids Research, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.
Smoom R et al.
Biorxiv : the Preprint Server for Biology, 2024
MUTATIONEXPLORER- A WEBSERVER FOR MUTATION OF PROTEINS AND 3D VISUALIZATION OF ENERGETIC IMPACTS.
Philipp M et al.
Biorxiv : the Preprint Server for Biology, 2024
The many faces of the helicase RTEL1 at telomeres and beyond.
Hourvitz N et al.
Trends in Cell Biology, 2024
Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.
Tobai H et al.
Pediatric Blood & Cancer, 2023
Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
He M et al.
The Turkish Journal of Pediatrics, 2023
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Awad A et al.
Nucleic Acids Research, 2020
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Marsh JCW et al.
Blood Advances, 2018
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C et al.
Frontiers in Immunology, 2017
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Keel SB et al.
Haematologica, 2016
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Fedick AM et al.
Clinical Genetics, 2015
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Glousker G et al.
British Journal of Haematology, 2015
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Deng Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ et al.
American Journal of Human Genetics, 2013