Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...

The difference between hereditary (germline) and acquired (somatic) gene mutations in cancer can lead to much confusion. This is especially true if you’re hearing about genetic testing for a genetic ...

A single amino acid change in a neuronal ion channel called KCNQ2 blocks ion flow, prevents protein localization on axons, and results in severe epilepsy and slowed neurological development.

Molecular analysis showed that in most instances, responders harboured specific mutations in the gene that encodes EGFR. Exon 19 mutations characterized by in-frame deletions of amino-acids 747 ...

6–8 A good starting point to investigate the usefulness of iPSC technology in modelling human cardiovascular diseases is to study certain inherited arrhythmogenic diseases caused by relatively simple ...

Jan. 8, 2025 — Researchers describe minimal versatile genetic perturbation technology (mvGPT). Capable of precisely editing genes, activating gene expression and repressing genes all at the same ...

In KRAS, the variations at codons 12 and 13, which are the most frequent mutations associated with this protein, result in G12D and G13D substitution, respectively. Similarly, the most common mutation ...

1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...

Pharmacogenomics. 2012;13(2):223-231.

This gene mutation hampers the body’s ability to produce an enzyme that helps break down alcohol and eliminate its byproducts from the body, health experts said. An at-home DNA test could detect ...

Your DNA may predict more about you than the way you look. According to the genetic theory of aging, your genes (as well as mutations in those genes) are responsible for how long you'll live. Here's ...