Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chatter. The study helps find a better drug target for the Angelman syndrome treatment.
Sep 14, 2023
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A mammalian protein previously shown by UT Southwestern microbiologists to inhibit the virus that causes COVID-19 in cell culture also protected live mouse models, significantly limiting infection in the lung cells and diminishing ...
Jul 31, 2023
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University of Queensland researchers have used genetics to reveal that much of the risk of developing a common and sometimes fatal intestinal disease is inherited.
Jul 5, 2023
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People with Down syndrome, or trisomy 21, a genetic condition caused by an extra copy of human chromosome 21, experienced a remarkable increase in life expectancy during the 20th century. In the early 1900s, less than 20% ...
Jun 6, 2023
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Therapeutic nanocarriers engineered from adult skin cells can curb inflammation and tissue injury in damaged mouse lungs, new research shows, hinting at the promise of a treatment for lungs severely injured by infection or ...
Jun 6, 2023
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Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies, and they can even help establish an early diagnosis. Historically, the visual evaluation and use of some classic anthropometric ...
May 10, 2023
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Every cell in our body is able to turn genes (DNA) on or off, producing RNA, but when genes are "turned on" to the wrong level it can result in a variety of health conditions.
May 2, 2023
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About 13,200 men and another 2,300 women in the United States over age 50 are estimated to have VEXAS syndrome, according to a new study. Long considered a mystery illness until its genetic basis was identified in 2020, the ...
Jan 24, 2023
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Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome ...
Jan 20, 2023
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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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