By studying the effects of DNA variants between people, researchers can gain insights into the genetics of diseases. It allows them to tailor medical treatment to a person's genetic makeup.
May 3, 2023
0
2
The enzyme TBK1 is an important component of the innate immune system that plays a critical role in the defense against viruses. Upon mutation-induced loss of TBK1 function, patients show an increased susceptibility to viral ...
Mar 10, 2023
0
24
Researchers at Children's Hospital of Philadelphia (CHOP) have identified variants of a chaperone molecule that optimizes the binding and presentation of foreign antigens across the human population, a finding that could ...
Feb 24, 2023
0
41
SPOP is the most mutated protein in prostate cancer and plays a role in endometrial, uterine and other cancers. Despite this importance, how SPOP mutations drive cancer has been incompletely understood. Scientists at St. ...
Jan 23, 2023
0
31
Genetic background has an effect on the metabolism of the essential polyunsaturated fatty acids alpha-linolenic acid and linoleic acid, a recent study from the University of Eastern Finland shows.
Nov 18, 2022
0
2
Context is known to influence many spheres. And now, researchers from Japan have found that a patients' health context—that is, the other conditions a patient has—can determine whether a specific gene mutation is helpful ...
Nov 17, 2022
0
37
People are already calling it the Machete Paper.
Nov 8, 2022
0
53
A new study shows how mutation of the ADAR1 gene sets off biochemical pathways that produce an autoimmune response that harms the developing brain and other areas of the body.
Jul 28, 2022
0
77
The most common mutation in the human genome is the C>T mutation, which causes half of all genetic diseases resulting from point mutations. For example, the one causing Hutchinson-Gilford progeria syndrome, a genetic disease ...
Jun 2, 2022
0
695
New findings from researchers at Memorial Sloan Kettering Cancer Center (MSK) and published today in the journal Nature Communications report the results of using a comprehensive sequencing approach on 114 pediatric, adolescent, ...
May 18, 2022
0
42
