Most families with autosomal dominant polycystic kidney disease (ADPKD) possess a genetic mutation in PKD1 that impacts the protein polycystin-1 (PC1).
Oct 26, 2022
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15
Researchers have uncovered cancer-like genetic mutations in the affected cells of people with scleroderma, pointing the way to potential new ways to treat the debilitating and sometimes fatal skin and connective tissue disease.
Oct 20, 2022
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15
Pediatric encephalopathies of genetic origin cause severe motor and intellectual disabilities from birth. One of these diseases, first identified in 2013, is caused by mutations in the GNAO1 gene. In order to understand the ...
Oct 10, 2022
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New educational materials to help the sickle cell disease community learn about gene therapies for the disease are now available from researchers at the National Human Genome Research Institute (NHGRI), part of the National ...
Sep 28, 2022
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Duchenne muscular dystrophy (DMD) is caused by a genetic mutation and affects one in every 5,000 boys born. Because the affected gene is on the X chromosome, girls are carriers of the mutant gene but develop the disease only ...
Sep 27, 2022
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982
Esophageal adenocarcinoma (EAC) is a type of cancer affecting the mucus-secreting glands of the lower esophagus—the tube connecting the throat to the stomach. It is the most common form of esophageal cancer and often preceded ...
Sep 22, 2022
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47
A common, spontaneous mutation in blood stem cells, which has been linked to higher risks of blood cancer and cardiovascular disease, may promote these diseases by altering the stem cells' programming of gene activity and ...
Sep 22, 2022
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For decades, researchers from all over the world have been working hard to understand Alzheimer's disease. Now, a collaboration between the Department of Biomedicine and the Department of Clinical Medicine at Aarhus University ...
Sep 22, 2022
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A mutation in a newly discovered small protein is connected to a significant increase in the risk for Alzheimer's disease, expanding the known gene targets for the disease and presenting a new potential avenue for treatment, ...
Sep 20, 2022
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893
A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe.
Sep 15, 2022
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