"Missense" mutations — changes in a DNA sequence that swap one amino acid for another — in nearly 5,000 human proteins are known to cause genetic diseases, such as Huntington's disease and ...

Missense mutations are genetic alterations arising from the substitution of a single base pair (bp) in an amino acid (aa) sequence with a different base pair, resulting in the translation of a ...

This DNA has suffered a mutation, either through mis-copying (when its parent cell divided), or through the damaging effects of exposure to radiation or a chemical carcinogen.

Sequencing of phenotyped clinical subjects will soon become a method of choice in studies of the genetic causes of Mendelian ... 13,032 human disease-causing mutations from UniProt and 8,946 ...

The inherited mutated gene WNT9B, which functions normally in embryonic prostate development, increases risk of adult prostate cancer, according to the Vanderbilt University Medical Center study ...

In a Phase I/II trial, patients with X-linked chronic granulomatous disease will receive a treatment created using a new ...

Childhood or young adult onset patients usually with acromegaly can also have mutations in the AIP gene without a known family history of pituitary adenoma. DNA (Deoxyribose Nucleic Acid) is the ...

Applied since the 1930s to accelerate the process of developing and selecting new valuable agronomic traits, mutation breeding uses a plant’s own genetic make-up, mimicking the natural process of ...