variants – try shaklee

Two unrelated cases with biallelic variants of CHEK2: a new condition with constitutional chromosomal instability? – European Journal of Human Genetics

Stolarova L, Kleiblova P, Janatova M, Soukupova J, Zemankova P, Macurek L, et al. CHEK2 germline variants in cancer susceptibility: dead end rather than checkmate. Cells. 2020;9:2675. Zhang J, Willers H, Feng Z, Ghosh JC, Kim S, Weaver DT, et al. Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair. Mol Cell Biol. 2004;24:708–18. CAS …

Research links genetic variants to fatal drug-induced brain infection

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Credit: Pixabay/CC0 Public domain New research has confirmed a strong link between four genetic mutations and progressive multifocal leukoencephalopathy (PML), a rare but often fatal brain infection that can be triggered by dozens of FDA-approved drugs. The research, published in Frontiers in Neurology on December 14, will allow physicians to screen out patients at highest …

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Whole-genome treasure links new genes and variants to autism | Spectrum | Autism Research News

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The largest analysis to date of whole-genome sequences from people with autism links new genes and variants to the disease. The results and sequences – from 5,100 people with autism and 6,212 without – are on a cloud-based platform and are available to trained researchers. This effort is the latest advancement of the ongoing MSSNG …

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Genetic variants that offered protection during the Black Death are also associated with current autoimmune disorders – Neuroscience News

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Summary: People with selected variants of the ERAP2 and TICAM2 genes were 40% more likely to survive the Black Death, the researchers found. However, in modern humans, those with the ERAP2 gene are more likely to suffer from autoimmune diseases such as Crohn’s disease. Source: University of Illinois Infectious diseases are among the strongest selective …

Genetic variants that offered protection during the Black Death are also associated with current autoimmune disorders – Neuroscience News Read More »