University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.
Jul 25, 2012
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Researchers at UMass Medical School have developed a genome-editing strategy to correct disease-causing DNA mutations in mouse models of human genetic diseases, according to research published in the Aug. 18 edition of Nature ...
Aug 14, 2018
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In early July, the German Institute for Quality and Efficiency in Health Care (IQWiG) conducted two early benefit assessments to investigate whether certain drug combinations with pembrolizumab have advantages in comparison ...
Sep 20, 2019
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Sodium chloride, better known as salt, is vital for the organism, and the kidneys play a crucial role in the regulation of sodium balance. However, the underlying mechanisms of sodium balance are not yet completely understood. ...
Aug 23, 2012
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Melbourne researchers have made a major step forward in understanding how changes in an essential cellular process, called minor class splicing, may cause a severe developmental disease.
Feb 10, 2014
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A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities.
Apr 18, 2013
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Acute myeloid leukemia (AML) is one of the most common forms of blood cancer among adults and is associated with a low survival rate, and leads to the inhibition of normal blood formation. Now, a research team at Lund University ...
Jun 3, 2020
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Researchers at the National Institutes of Health have created a novel gene therapy procedure that could preserve fertility in people with sickle cell disease and other genetic blood conditions. Infertility is a high-risk ...
Oct 12, 2023
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A recent study led by Gergely Lukacs, a professor at McGill University's Faculty of Medicine, Department of Physiology, and published in the January issue of Cell, has shown that restoring normal function to the mutant gene ...
Mar 12, 2012
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Obese children show greater exposure than nonobese children to a phthalate, a chemical used to soften plastics in some children's toys and many household products, according to a new study, which found that the obesity risk ...
Jun 26, 2012
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