Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R865C
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TERT

NM_198253.3:p.R865C

Associated Papers

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR et al.

Jama Network Open, 2024

39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf

Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.

Virijevic M et al.

Familial Cancer, 2024

Advances in cellular senescence in idiopathic pulmonary fibrosis (Review).

Han S et al.

Experimental and Therapeutic Medicine, 2023

Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants.

Welfer GA et al.

Genes, 2023

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

The clinical and functional effects of TERT variants in myelodysplastic syndrome.

Reilly CR et al.

Blood, 2021

Insights into diseases of human telomerase from dynamical modeling.

Flores SC et al.

Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2013

Variations in the exome of the LNCaP prostate cancer cell line.

Spans L et al.

The Prostate, 2012

hTERT mutations associated with idiopathic pulmonary fibrosis affect telomerase activity, telomere length, and cell growth by distinct mechanisms.

Tsang AR et al.

Aging Cell, 2012

Medical genetics and epigenetics of telomerase.

Koziel JE et al.

Journal of Cellular and Molecular Medicine, 2011

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Diaz de Leon A et al.

Plos One, 2010

Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.

Hills M et al.

Annals of the New York Academy of Sciences, 2009

Genetic and environmental factors influencing human diseases with telomere dysfunction.

Ly H

International Journal of Clinical and Experimental Medicine, 2009

Telomere shortening in familial and sporadic pulmonary fibrosis.

Cronkhite JT et al.

American Journal of Respiratory and Critical Care Medicine, 2008

Telomere maintenance and human bone marrow failure.

Calado RT et al.

Blood, 2008

Human diseases of telomerase dysfunction: insights into tissue aging.

Garcia CK et al.

Nucleic Acids Research, 2007

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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."