The Department of Neurology at Niigata University has developed a new in silico method for evaluating the pathogenicity of missense variants using AlphaFold2 (MOVA).
Jun 14, 2023
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From 2002 to 2005, about 800 people in Minnesota and Utah drank more than 1,500 milkshakes, and they got to say they were doing it for science.
Apr 24, 2018
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Genetic confirmation of the suspected diagnosis of "hereditary colorectal cancer" is of great importance for the medical care of affected families. However, many of the variants identified in the known genes cannot currently ...
Dec 7, 2023
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The advent of whole genome sequencing technology has prompted an explosion in research into how genetics are associated with disease risk. But the vast majority of genetics research has been done on people of European ancestry, ...
Nov 15, 2023
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Researchers discover a link between an increase in protein Ba of the complement immune system and the eventual development of thrombotic microangiopathy in patients who have received an allogeneic hematopoietic stem cell ...
Aug 26, 2021
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Recent advances in the development of cancer therapies have increased long-term survival and prognosis. However, the increased burden and prevalence of harmful side effects, including cardiomyopathy, have emerged alongside ...
Apr 10, 2019
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Researchers at the University of Helsinki, in cooperation with two research groups in the United States, have discovered that some Finnish mothers carry rare gene variants that protect them from pre-eclampsia, also known ...
Jul 3, 2017
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Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX. These genetic variants may ...
Jun 12, 2024
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