LOS ANGELES, Jan. 30 (Xinhua) -- U.S. scientists have identified how a gene mutation affects T cell function to promote immune disorders and then tested a treatment based on the discovery--successfully fixing donated immune cells from a 16-year-old boy with an abnormally low level of white...
How the discovery of a mutation in a young Spanish girl with severe lupus is forging the path for new treatments A team of scientists from different parts of the world came together to investigate the cause of an unusually severe case of lupus in a seven-year-old Spanish girl. Whole genome...
Modern apps can sometimes generate so much data that it’s hard to make sense of it all. In this episode of the Azure Enablement Show, David, Uli, and Eric...
For example, many rare missense variants identified may or may not have an impact on gene function and can be problematic to interpret in a clinical setting. Thus, there is a need for a systematic approach to applying, reporting, and evaluating variants identified. One important aspect is to ...
For example, many rare missense variants identified may or may not have an impact on gene function and can be problematic to interpret in a clinical setting. Thus, there is a need for a systematic approach to applying, reporting, and evaluating variants identified. One important aspect is to ...
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"In our study, the mutant protein made by the ACTA2 mutation caused the cells in the artery wall to be stressed, but there are many other factors that can stress cells. We are now working on the risk factors for coronary artery disease, like hypertension, that would also stress the cells...
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Pseudogene: DNA sequences that once encoded protein sequences, but which are no longer transcribed into messenger RNA (mRNA) in a way that translates to functional protein. Stratum: Region on the sex chromosomes where recombination has been suppressed. Strata can be identified by spatial clusters ...