A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and diabetes. Scant and conflicting ...
Aug 1, 2022
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1011
Genetic mutations which cause a debilitating hereditary kidney disease affecting children and young adults have been fixed in patient-derived kidney cells using a potentially game-changing DNA repair-kit. The advance, developed ...
Jul 29, 2022
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49
Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing ...
Jul 28, 2022
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1
As new omicron subvariants of COVID-19 continue to sweep across the United States, researchers at the University of Missouri have identified specific mutations within the virus' spike protein that help omicron subvariants ...
Jul 18, 2022
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60
p53 is one of the most important proteins in cancer biology. Often referred to as a "guardian of the genome," p53 becomes activated in response to various cellular stressors like DNA damage. Its activation induces different ...
Jul 12, 2022
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21
Sickle cell disease is an extremely debilitating condition that affects up to 40% of the population in African countries, with patients suffering episodes of excruciating pain, organ damage and reduced life expectancy. This ...
Jul 6, 2022
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64
How long someone lives with Parkinson's disease may be down to specific gene mutations, according to new research presented today at the Eighth European Academy of Neurology (EAN) Congress.
Jun 27, 2022
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6
A novel staging framework that assesses the progression of Huntington's disease (HD), similar to the way cancer is staged 0 to 4, has been developed by UCL scientists as part of an international consortium; this 'significant' ...
Jun 16, 2022
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11
Three decades ago, UC Santa Barbara neuroscientist Kenneth S. Kosik first started studying a Colombian family afflicted with a genetic form of early-onset Alzheimer's disease. He and fellow researchers realized that they ...
Jun 14, 2022
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31
New research from UT Southwestern suggests that RNA exosomes—the cellular machines that degrade old molecules of RNA—play a key role in the development of B cells, which are critical to the immune system's ability to ...
Jun 13, 2022
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