Varaico: Literature-Extracted Genetic Variants

Gene:POT1
Variant:p.K90E
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POT1

NM_015450.3:p.K90E

Associated Papers

Active telomere elongation by a subclass of cancer-associated POT1 mutations.

Martin A et al.

Genes & Development, 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

Dissecting the oncogenic mechanisms of POT1 cancer mutations through deep scanning mutagenesis.

Martin A et al.

Biorxiv : the Preprint Server for Biology, 2024

Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.

Jiang YJ et al.

Frontiers in Oncology, 2024

Advances in the understanding and treatment of Cutaneous T-cell Lymphoma.

Bakr FS 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

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

Replication stress conferred by POT1 dysfunction promotes telomere relocalization to the nuclear pore.

Pinzaru AM et al.

Genes & Development, 2020

Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Tausch E et al.

Haematologica, 2020

33054084 (PubMed )
Supplement: 2019.229161.TAUSCH_SUPPL.pdf

Role of POT1 in Human Cancer.

Wu Y et al.

Cancers, 2020

Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer.

Orois A et al.

Hormones & Cancer, 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

The role of telomere binding molecules for normal and abnormal hematopoiesis.

Hosokawa K et al.

International Journal of Hematology, 2018

A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.

Wilson TL et al.

Familial Cancer, 2017

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.

Speedy HE et al.

Blood, 2016

Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis.

Pinzaru AM et al.

Cell Reports, 2016

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia.

Ramsay AJ et al.

Nature Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."