Associated Papers
Active telomere elongation by a subclass of cancer-associated POT1 mutations.
Martin A et al.
Genes & Development, 2025
Dissecting the oncogenic mechanisms of POT1 cancer mutations through deep scanning mutagenesis.
Martin A et al.
Biorxiv : the Preprint Server for Biology, 2024
The genomic and evolutionary landscapes of anaplastic thyroid carcinoma.
Zeng PYF et al.
Cell Reports, 2024
Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort.
Simonin-Wilmer I et al.
Journal of Medical Genetics, 2023
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
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
Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.
Ramassone A et al.
Journal of Hematology & Oncology, 2019
Investigation of deleterious effects of nsSNPs in the POT1 gene: a structural genomics-based approach to understand the mechanism of cancer development.
Amir M et al.
Journal of Cellular Biochemistry, 2019
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
Dissecting Fission Yeast Shelterin Interactions via MICro-MS Links Disruption of Shelterin Bridge to Tumorigenesis.
Liu J et al.
Cell Reports, 2015
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
POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD et al.
Nature Genetics, 2014