Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.D712A
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TERT

NM_198253.3:p.D712A

Associated Papers

Human RPA is an essential telomerase processivity factor for maintaining telomeres.

Agrawal S et al.

Science (new York, N.y.), 2025

Cryo-EM structure of human telomerase dimer reveals H/ACA RNP-mediated dimerization.

Balch S et al.

Science (new York, N.y.), 2025

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

Virijevic M et al.

Familial Cancer, 2024

Telomerase Reverse Transcriptase Preserves Neuron Survival and Cognition in Alzheimer's Disease Models.

Shim HS et al.

Nature Aging, 2021

Telomerase therapy reverses vascular senescence and extends lifespan in progeria mice.

Mojiri A et al.

European Heart Journal, 2021

Telomerase promotes formation of a telomere protective complex in cancer cells.

Perera ON et al.

Science Advances, 2019

Transient introduction of human telomerase mRNA improves hallmarks of progeria cells.

Li Y et al.

Aging Cell, 2019

Structural, functional, and stability change predictions in human telomerase upon specific point mutations.

Kalathiya U et al.

Scientific Reports, 2019

Human telomerase protein: Understanding how the catalytic activity is suppressed under single substitutions of some conserved residues. A computational study.

Herrera FE et al.

Proteins, 2018

Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Zaug AJ et al.

Nucleic Acids Research, 2013

Human telomerase catalytic subunit (hTERT) suppresses p53-mediated anti-apoptotic response via induction of basic fibroblast growth factor.

Jin X et al.

Experimental & Molecular Medicine, 2010

Mutations in the tetramerization domain of p53: more than just keeping monomers apart.

Goldstein I et al.

Cell Cycle (georgetown, Tex.), 2009

Two independent regions of human telomerase reverse transcriptase are important for its oligomerization and telomerase activity.

Arai K et al.

The Journal of Biological Chemistry, 2002

Reconstitution of human telomerase activity in vitro.

Beattie TL et al.

Current Biology : Cb, 1998

Telomerase activation by hTRT in human normal fibroblasts and hepatocellular carcinomas.

Nakayama J et al.

Nature Genetics, 1998

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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."