The current idea about how tuberous sclerosis occurs places mTORC1, a protein complex that regulates cell metabolism, as the major driving force behind the disease. But according to a new study published in the Proceedings ...
Feb 7, 2019
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A UCLA-led research team has identified genetic processes involved in the neurodegeneration that occurs in dementia—an important step on the path toward developing therapies that could slow or halt the course of the disease. ...
Dec 3, 2018
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481
Mutations in RAS proteins initiate many of the most aggressive tumors, and the search for pharmacological inhibitors of these proteins has become a priority in the battle against cancer. Michail Steklov, Francesca Baietti, ...
Nov 16, 2018
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A study in Biological Psychiatry has established a new analytical method for investigating the complex genetic origins of mental illnesses using brain cells that are grown in a dish from human embryonic stem cells. Researchers ...
Oct 16, 2018
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For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized ...
Oct 4, 2018
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129
Scientists at The Wistar Institute have unveiled part of the protein complex that protects telomeres—the ends of our chromosomes. The study, published online in Nature Communications, explains how a group of genetic mutations ...
Apr 11, 2017
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172
How does type 2 diabetes develop? A team of researchers headed by the Helmholtz Zentrum München and the Technical University of Munich has come closer to finding an answer to this problem. The team examined the functional ...
Mar 27, 2017
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Scientists studying the role of a protein complex in the normal development of the mouse brain unexpectedly created a mouse model that replicates clinical symptoms of patients with complex neurological disorders such as hyperactivity, ...
Mar 14, 2017
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In an international study, the drug everolimus has been shown to significantly reduce the frequency of seizures in patients with treatment-resistant epilepsy and tuberous sclerosis complex (TSC)—a genetic disease that causes ...
Sep 6, 2016
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Scientists at the Wellcome Trust Sanger Institute and their international collaborators have shown that Acute Myeloid Leukaemia (AML) is not a single disorder, but at least 11 different diseases, and that genetic changes ...
Jun 8, 2016
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