Associated Papers
Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.
Fiasconaro CA et al.
Diseases (basel, Switzerland), 2025
Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia.
Black GS et al.
Genome Research, 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
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
Genetic and Epigenetic Inheritance at Telomeres.
Lister-Shimauchi EH et al.
Epigenomes, 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 novel somatic PLCG2 variant associated with resistance to BTK and SYK inhibition in chronic lymphocytic leukemia.
Raghunathan V et al.
European Journal of Haematology, 2021
Investigation of conformational dynamics of Tyr89Cys mutation in protection of telomeres 1 gene associated with familial melanoma.
Amir M et al.
Journal of Biomolecular Structure & Dynamics, 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
Impact of Gln94Glu mutation on the structure and function of protection of telomere 1, a cause of cutaneous familial melanoma.
Amir M et al.
Journal of Biomolecular Structure & Dynamics, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.
Gu P et al.
Oncogene, 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
Recent developments in brain tumor predisposing syndromes.
Johansson G et al.
Acta Oncologica (stockholm, Sweden), 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