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
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
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
Germline POT1 variants can predispose to myeloid and lymphoid neoplasms.
Lim TL et al.
Leukemia, 2022
Cancer-associated POT1 mutations lead to telomere elongation without induction of a DNA damage response.
Kim WT et al.
The Embo Journal, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 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
POT1-TPP1 telomere length regulation and disease.
Aramburu T et al.
Computational and Structural Biotechnology Journal, 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
The role of telomere binding molecules for normal and abnormal hematopoiesis.
Hosokawa K et al.
International Journal of Hematology, 2018
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
POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD et al.
Nature Genetics, 2014
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.
Ramsay AJ et al.
Nature Genetics, 2013
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.
Quesada V et al.
Nature Genetics, 2011