Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.V144M
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TERT

NM_198253.3:p.V144M

Associated Papers

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

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

Han S et al.

Experimental and Therapeutic Medicine, 2023

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.

Zhang D et al.

The European Respiratory Journal, 2022

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations.

Newton CA et al.

The European Respiratory Journal, 2017

Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations.

Nunes H et al.

The European Respiratory Journal, 2017

Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.

Maryoung L et al.

The Journal of Clinical Investigation, 2017

Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

Newton CA et al.

The European Respiratory Journal, 2016

Contributions of the TEL-patch amino acid cluster on TPP1 to telomeric DNA synthesis by human telomerase.

Dalby AB et al.

Journal of Molecular Biology, 2015

Identification of human TERT elements necessary for telomerase recruitment to telomeres.

Schmidt JC et al.

Elife, 2014

TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends.

Zhong FL et al.

Cell, 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

Idiopathic pulmonary fibrosis: update on genetic discoveries.

Garcia CK

Proceedings of the American Thoracic Society, 2011

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."