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
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
CoPixie, a novel algorithm for single-particle track colocalization, enables efficient quantification of telomerase dynamics at telomeres.
Prince S et al.
Nucleic Acids Research, 2024
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
Burren OS et al.
Nature Genetics, 2024
POT1 and multiple primary melanomas: the dermatological phenotype.
Maas EJ et al.
Journal of Medical Genetics, 2024
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Andreotti V et al.
Genes, 2024
A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer.
Shen S et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort.
Simonin-Wilmer I et al.
Journal of Medical Genetics, 2023
Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Goldstein AM et al.
Jaad International, 2023
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
Heritable defects in telomere and mitotic function selectively predispose to sarcomas.
Ballinger ML et al.
Science (new York, N.y.), 2023
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
Mondschein R et al.
Cancers, 2022
Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.
Lim TL et al.
Leukemia, 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
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
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
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
Germline mutations in Protection of Telomeres 1 in two families with Hodgkin lymphoma.
McMaster ML et al.
British Journal of Haematology, 2018
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