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  1. Mutations in the polymerase that replicates mitochondrial DNA, Pol γ, lead to a range of human neuromuscular and ophthalmologic diseases. Loss of function of the TLS polymerase Pol η...

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      Metrics - DNA polymerases and human disease | Nature Reviews...

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      Full Size Image - DNA polymerases and human disease | Nature...

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      Full Size Table - DNA polymerases and human disease | Nature...

    • Genetic Mutation

      A mutation is a heritable change in the nucleotide sequence...

  2. 10 Οκτ 2024 · We recently linked CpG>TpG mutations to replication and hypothesized that errors introduced by polymerase ε (Pol ε) may represent an alternative source of mutations. Here we present a new...

  3. A mutation is a heritable change in the nucleotide sequence of an organism's DNA that ultimately serves as a source of genetic diversity. A single base change can create a devastating genetic...

  4. Our major focus is on the phenotypic consequences of mutation or ablation of individual DNA polymerase genes. We discuss phenotypes of current mouse models and altered polymerase functions and the relationship of DNA polymerase gene mutations to human cell phenotypes.

  5. 15 Δεκ 2020 · DNA polymerase mutations can cause hypermutant cancers, but the mechanisms of tumorigenesis and the impact of various DNA polymerase mutations on treatment response is poorly understood. In this issue of <i>Cancer Research</i>, Galati and colleagues investigate the effects of cancer-associated <i>DN</i> …

  6. Cells respond to DNA damage by instigating robust DNA damage response (DDR) pathways, which allow sufficient time for specified DNA repair pathways to physically remove the damage in a substrate-dependent manner.

  7. Here we review the properties and functions of DNA polymerases focusing on yeast and mammalian cells but paying special attention to the plant enzymes and the special circumstances of replication and repair in plant cells. Keywords: DNA Polymerase, DNA repair, DNA replication, TLS, translesion synthesis, fidelity.

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