The absence of one copy of a single gene in the brain causes a rare, as-yet-unnamed neurological disorder, according to new research that builds on decades of work by a University at Buffalo biochemist and his colleagues.
Nov 13, 2018
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21
Medicine has two things to offer when viral pandemics hit: vaccines and therapeutics. While it is hard to undervalue the noble goal of rapidly developing and rolling out safe vaccines that effectively reduce disease severity, ...
Cancerous tumors trick myeloid cells, an important part of the immune system, into perceiving them as a damaged part of the body; the tumors actually put myeloid cells to work helping them grow and metastasize (spread). A ...
Jan 5, 2019
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The most common mutation in the human genome is the C>T mutation, which causes half of all genetic diseases resulting from point mutations. For example, the one causing Hutchinson-Gilford progeria syndrome, a genetic disease ...
Jun 2, 2022
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695
A genetic mutation which makes its bearers more likely to behave impulsively while intoxicated may shield them from obesity and change the way testosterone impacts insulin resistance, indicates a study conducted at the University ...
Aug 10, 2016
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3
University of Helsinki researchers have identified a genetic mutation which renders carriers susceptible to particularly impulsive and reckless behaviour when drunk. More than one hundred thousand Finns carry this mutation.
Nov 17, 2015
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1360
Researchers at Children's Hospital of Philadelphia (CHOP) have identified variants of a chaperone molecule that optimizes the binding and presentation of foreign antigens across the human population, a finding that could ...
Feb 24, 2023
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41
A team of researchers has identified the genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grows massively out of proportion. The discovery, which has implications for potential drug ...
Jul 27, 2011
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0
Autism spectrum disorder (ASD) is a heterogeneous disorder initiated early in development and characterized by abnormal social communication. Accumulating evidence supports the idea that specific mutations affect regulatory ...
Aug 3, 2020
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36
Non-alcoholic fatty liver disease (NAFLD) is the accumulation of fat in the liver unrelated to alcohol abuse or other liver diseases. It is often associated with obesity and diabetes and is considered a manifestation of metabolic ...
Nov 10, 2021
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55
