A team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC), working in collaboration with institutes in the U.S., has demonstrated that acquired mutations in the gene encoding the protein p53 contribute to the ...
Jan 16, 2023
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47
Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug. The study, ...
Jan 5, 2023
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59
Alpha-1 antitrypsin deficiency (AATD) is an important and under-recognized genetic cause of liver disease. The most common mutation associated with liver disease results from a single change within the DNA sequence known ...
Dec 6, 2022
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141
Two men buried long ago in a medieval graveyard in Co. Donegal had a genetic condition called multiple osteochondromas, which causes benign bone tumors. One of the disease mutations is a new discovery, so this is the first ...
Dec 5, 2022
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47
Context is known to influence many spheres. And now, researchers from Japan have found that a patients' health context—that is, the other conditions a patient has—can determine whether a specific gene mutation is helpful ...
Nov 17, 2022
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37
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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60
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
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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23
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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50
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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