Associated Papers
Mutation-specific structural changes in BRAF: understanding dimerization and drug binding for targeted therapy.
Zhao M et al.
Journal of Biomolecular Structure & Dynamics, 2025
Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.
Fiasconaro CA et al.
Diseases (basel, Switzerland), 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
Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders.
Kochman R et al.
Genes & Development, 2024
All-CLL: A Capture-based Next-generation Sequencing Panel for the Molecular Characterization of Chronic Lymphocytic Leukemia.
López-Oreja I et al.
Hemasphere, 2023
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Zade NH et al.
Journal of Cellular Physiology, 2023
In silico identification and characterization of small-molecule inhibitors specific to RhoG/Rac1 signaling pathway.
Dipankar P et al.
Journal of Biomolecular Structure & Dynamics, 2023
Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.
Khatoon F et al.
3 Biotech, 2022
Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson's Disease.
Anjum F et al.
Journal of Personalized Medicine, 2022
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
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
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
Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.
Nadeu F et al.
Leukemia, 2018
Pot1 OB-fold mutations unleash telomere instability to initiate tumorigenesis.
Gu P et al.
Oncogene, 2017
Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance.
Rajavel M et al.
Nucleic Acids Research, 2016
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
Genetic Testing in the Multidisciplinary Management of Melanoma.
Rashid OM et al.
Surgical Oncology Clinics of North America, 2015
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
Epigenetic dysregulation in meningiomas.
Wedemeyer MA et al.
Neuro-oncology Advances, 0