New research, published in Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone ...
Mar 14, 2013
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The unusually high incidence of early-onset Alzheimer's disease in this isolated cattle town has thrust it to the forefront of global efforts to find a cure for the debilitating malady.
Dec 17, 2012
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The aorta, the body's largest artery, is like a hose through which our blood flows. When the hose is squeezed, the pump (i.e., the heart) is forced to work harder. In a new study, Yale researchers investigated factors that ...
Feb 9, 2016
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By identifying a protein that acts as a genetic modifier, scientists at Cold Spring Harbor Laboratory (CSHL) have solved the mystery of why some infants are born with a grave syndrome consisting of cleft palate and major ...
Jun 14, 2013
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One in five very low-birth-weight, premature infants suffers a life-threatening brain hemorrhage, often originating in a vital region known as the germinal matrix. In a recently published study in the journal Developmental ...
Mar 13, 2018
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The cells of a subset of myeloproliferative neoplasms (MPNs), slow-growing blood cancers, have frameshift mutations in their calreticulin (CALR) gene that are associated with the disease. The tail end of this gene's mutated ...
Sep 20, 2022
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An assay designed to measure normal and abnormal forms of the huntingtin protein – the mutated form of which causes Huntington's disease (HD) – was successful in detecting levels of the mutant protein in a large multicenter ...
Aug 29, 2013
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A gene mutation has been found to contribute to non-alcoholic fatty liver disease (NAFLD), a form of liver disease closely linked to obesity, in normal weight subjects. Carriers of the PNPLA3 mutant genotype were found to ...
Jul 22, 2015
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Genetic risk is the contribution our genes play in the chance we have of developing certain illnesses or diseases. Genes are not the only deciding factor for whether or not we will develop certain diseases and their influence ...
May 7, 2014
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New research into Rett syndrome therapeutics suggests that a small molecule already reported to improve respiratory problems associated with the disease may also improve spatial memory and motor skill defects.
Jul 5, 2017
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