Associated Papers
Active telomere elongation by a subclass of cancer-associated POT1 mutations.
Martin A et al.
Genes & Development, 2025
In silico and in vitro mutational analysis to investigate the structure and pathogenicity of POT1 missense variants.
Nguyen T et al.
Nar Molecular Medicine, 2025
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
Pot1b -/- tumors activate G-quadruplex-induced DNA damage to promote telomere hyper-elongation.
Takasugi T et al.
Nucleic Acids Research, 2023
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
POT1-TPP1 binding stabilizes POT1, promoting efficient telomere maintenance.
Aramburu T et al.
Computational and Structural Biotechnology Journal, 2022
Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.
Kim WT et al.
The Embo Journal, 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
Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population.
Malińska K et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2020
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer.
Srivastava A et al.
Cancers, 2020
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
The enigma of excessively long telomeres in cancer: lessons learned from rare human POT1 variants.
Gong Y et al.
Current Opinion in Genetics & Development, 2020
POT1-TPP1 telomere length regulation and disease.
Aramburu T et al.
Computational and Structural Biotechnology Journal, 2020
Structural and functional analysis of the human POT1-TPP1 telomeric complex.
Rice C et al.
Nature Communications, 2017
Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer.
Chen C et al.
Nature Communications, 2017
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
Speedy HE et al.
Blood, 2016
The shelterin complex and hematopoiesis.
Jones M et al.
The Journal of Clinical Investigation, 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
Genetics of familial melanoma: 20 years after CDKN2A.
Aoude LG et al.
Pigment Cell & Melanoma Research, 2015
Mutations in POT1 predispose to familial cutaneous malignant melanoma.
Trigueros-Motos L
Clinical Genetics, 2014
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Shi J et al.
Nature Genetics, 2014