Discovery-driven research leads to breakthrough in understanding rare Sengers syndrome
Melbourne researchers have unlocked important information that could lead to improved treatment of a rare and serious genetic condition.
Jul 14, 2017
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Melbourne researchers have unlocked important information that could lead to improved treatment of a rare and serious genetic condition.
Jul 14, 2017
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Researchers find key molecule that could lead to new therapies for anemia and other iron disorders
May 11, 2017
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Working with mouse, fly and human cells and tissue, Johns Hopkins researchers report new evidence that disruptions in the movement of cellular materials in and out of a cell's control center—the nucleus—appear to be a ...
May 4, 2017
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A new rare muscle disorder has been identified by researchers at Ruhr-Universität Bochum (RUB). This hereditary disease is caused by a defect in the BICD2 gene that manifests itself in altered cellular transport processes ...
Mar 22, 2017
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For more than a decade, researchers have tried to figure out the role of a membrane transport protein involved with a rare, hereditary condition that results in vision loss. Numerous papers have been published, but no single ...
Dec 1, 2016
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A minor hiccup in the sequence of a human gene can have devastating impacts on health. Such flaws cause cystic fibrosis (CF), a disease affecting the lungs and other vital organs, often leading to death by the age of 30.
Sep 9, 2016
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Scientists have discovered a new way to attack Staphylococcus aureus bacteria. The team, from Imperial College London, have revealed how the bacteria regulates its salt levels.
Aug 16, 2016
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An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays. The mutation disrupts normal protein ...
Jul 28, 2016
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Cystinuria occurs in one out of every 7,000 in the world, one out of every 10,000 -20,000 in Japan, but its curative treatment has not been established. AGT1/SLC7A13, a protein, is an unknown factor that binds with the protein ...
Apr 4, 2016
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To date, studies in pregnant women examining transport of drugs across the placenta are rare and inadequate, said Tomo Nabekura, PhD. Such knowledge could be vital to preserving fetal health. In a new laboratory study, Nabekura ...
Oct 14, 2015
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