What is the role of chromatin structure in mutations? What is the effect of transcription on mutation rates?

We identified de novo missense mutations in exon 8 of CaV1.2 in both individuals. One was an analogous mutation to that found in exon 8A in classic TS, G406R. This is called a non-truncating PKD1 mutation. Patients with PKD2 mutations not only have a milder disease but a later onset of symptoms which can lead to ... While most DNA replicates with fairly high fidelity, mistakes do happen, with polymerase enzymes sometimes inserting the wrong nucleotide or too many or too ... MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function. The mutations mean that the cells that should ... Jul 1, 2019 ... Mutations in IDH genes prevent cells from differentiating, or specializing, into the kind of cells they are ultimately supposed to become. Rarely, it is caused by an illness-causing mutation in other genes such as TARDBP, VCP, CHMP2B, SQSTM1, UBQLN2 or TBK1. Genetic FTD is passed down in families ... Endogenous mouse tau has been reported to assemble into filaments in a neurodegenerative condition caused by inactivation of the gene encoding the prolyl ... Mar 11, 2021 ... In a recent breakthrough, researchers have been able to calculate when the JAK2 mutation that causes MPN disease first appeared in two ... Mar 4, 2025 ... Changes (mutations) in genes as a cause of AML. Cancer is caused by changes in the DNA inside our cells. DNA is the chemical in our cells ... Jan 6, 2025 ... Gene mutations are changes in a gene's DNA that can affect how the gene works. These changes can cause the body to not function properly. More ...