Associated Papers
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
Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort.
Simonin-Wilmer I et al.
Journal of Medical Genetics, 2023
A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families.
Hakkarainen M et al.
Ejhaem, 2022
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.
Kim WT et al.
The Embo Journal, 2021
POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.
Shen E et al.
Journal of Medical Genetics, 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
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
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.
Shi J et al.
Nature Genetics, 2014