That point mutation in TKTL1 means that the Neanderthal version of the protein has a lysine where the modern human version has an arginine. After conducting experiments with fetal human neocortex ...

They can also appear spontaneously during the replication of DNA. Mutations generally fall into two types: point mutations and chromosomal aberrations. In point mutations, one base pair is changed.

Hemophilia, a rare inherited bleeding disorder, is primarily caused by mutations in specific genes that impair the body’s ...

The method first takes a given SARS-CoV-2 spike protein sequence and simulates all possible single-point mutations. For each mutated version of the protein, DNMS uses the ProtBERT model to ...

Point mutations are often thought of as the raw material of evolution; these small changes include the substitution of one nucleotide with another (often referred to as a single-nucleotide ...

We used a novel geometric hyperbranched RCA (HRCA) reaction to detect point mutations in small amounts of human genomic DNA in solution. Furthermore, linear RCA, using pre-formed circles as ...

RIKEN researchers have demonstrated the protective effects of a specific genetic mutation against Alzheimer's disease in ...