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Novel AI tool not only identifies genetic mutations but also predicts the type of disease

4+ mon, 3+ day ago  (457+ words) Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of disease those mutations may trigger. The method, called V2 P (Variant…...

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Study reveals bile as reservoir for microplastics in humans

1+ week, 4+ day ago  (603+ words) Plastic pollution has become one of the defining environmental issues of modern life, and microplastics are now known to enter the body through food, drink, and air. Study reveals bile as reservoir for microplastics in humans Plastic pollution has become…...

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AI model ranks genetic variants from severe to mild disease mutations

4+ mon, 2+ week ago  (383+ words) By combining deep evolutionary signals with human population data, the pop EVE model provides a novel approach to identifying the most damaging genetic mutations. This highlights previously hidden disease genes and provides clinicians with a powerful new way to prioritize…...

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Ion channel TRPV4 found to regulate relief after scratching an itch

1+ mon, 3+ week ago  (434+ words) In a new study from the laboratory of Roberta Gualdani, professor at the University of Louvain in Brussels, researchers reveal an unexpected role for the ion channel TRPV4 in mechanically evoked itch. We were initially studying TRPV4 in the context of pain....

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Cryo-EM reveals how proteins are protected during synthesis

4+ mon, 4+ week ago  (453+ words) Proteins are often called the building blocks of cells, but even those building blocks need to be built. One of the most important steps in the process of building proteins is glycosylation, when sugar molecules (glycans) are attached to the…...

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New findings explain why eccentric training prevents common sprinting injuries

1+ day, 16+ hour ago  (256+ words) "Previous research has shown that exercises such as the Nordic hamstring exercise are very effective at reducing hamstring injury risk," said first author Dr. Max Andrews, who conducted the study as a visiting researcher at Stanford and is now a…...

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New cryopreservation technique reduces cracking risk in organ freezing

6+ mon, 4+ week ago  (347+ words) To preserve organs outside the body for an extended period, researchers use vitrification, which involves freezing tissue in a solution and preserving it in a glassy state, allowing cells to be "frozen in time" without the risk of damage from…...

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Diverse biobank study links genetics to disease risk and treatment

3+ week, 2+ hour ago  (272+ words) A new study by UCLA Health published in Cell presents a major advancement in the future of personalized medicine by pinpointing new connections between people's genes, disease risk and medicine response by using a clinically well-characterized and diverse population-represented biobank....

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Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms

5+ mon, 1+ week ago  (474+ words) Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of rare disease, and present case studies of affected patients through a collaboration with Boston Children's Hospital. The findings help to identify genetic…...

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Researchers use tiny glass capillaries to sample living cancer cell parts

1+ day, 5+ hour ago  (238+ words) Dr Monica Felipe-Sotelo, Senior Lecturer in Radiochemistry and Analytical Chemistry, co-author of the study from the University of Surrey, said: The team used tiny glass capillary tips - ten micrometres wide for whole cells, three micrometres for subcellular structures - to extract…...