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 ...
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...
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Scientists have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue ofNatureMedicine, was conducted by researchers at theIcahn School of Medicine at Mount Sinaiin collabora...
Their mutation could release the CCW pose. Full size image The CW pose bound to a regulator In one of our CW switchΔPAA datasets, we observed density for a binding partner within the cleft in the FliG subunit (Fig. 5a,b and Extended Data Fig. 5b). This identifies one way that a ...
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...
Host SHP1 phosphatase antagonizes Helicobacter pylori CagA and can be downregulated by Epstein-Barr virus. Nat. Microbiol. 1, 16026 (2016). Article CAS PubMed Google Scholar Meimarakis, G. et al. Helicobacter pylori as a prognostic indicator after curative resection of gastric carcinoma: a ...
Every year, more than 100,000 women—a quarter of breast-related plastic surgery patients—have “reconstructive” procedures, mostly after mastectomies. They don’t all have the disease; preventive mastectomies got a boost in 2013, when actor Angelina Jolie, who has a gene mutation that puts ...
In addition, Nup358 and Nup153 were both identified in two genome-wide RNA interference (RNAi) screens for host factors involved in HIV-1 infection [56], [59]. A recent study showed that a single point mutation in the HIV-1 capsid protein could change the nuclear transport requirements of...
[36]. The presence of lipid-specific IgM in the cerebrospinal fluid has been identified as a negative prognostic marker in MS patients [51] and co- localization of IgM with activated complement on axons and oligodendrocytes has been shown before in MS [43]. Prominent somatic hyper-mutation of...