Associated Papers
Exploring the spectrum of central nervous system tumours in carriers of germline POT1 variants.
Nielsen EN et al.
Journal of Medical Genetics, 2026
Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.
Li T et al.
Cancer Medicine, 2024
38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
POT1 Regulates Proliferation and Confers Sexual Dimorphism in Glioma.
Jalali A et al.
Cancer Research, 2021
A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies.
Nathan V et al.
British Journal of Haematology, 2021
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.
Ceglie G et al.
Frontiers in Pediatrics, 2020
Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series.
Jacobs DI et al.
Neuro-oncology, 2018
The shelterin complex and hematopoiesis.
Jones M et al.
The Journal of Clinical Investigation, 2016
Recent developments in brain tumor predisposing syndromes.
Johansson G et al.
Acta Oncologica (stockholm, Sweden), 2016
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
Calvete O et al.
Nature Communications, 2015
Germline mutations in shelterin complex genes are associated with familial glioma.
Bainbridge MN et al.
Journal of the National Cancer Institute, 2015
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