Kalydeco (ivacaftor) is a drug used to treat cystic fibrosis, a disorder that affects many organs, particularly the lungs. Cystic fibrosis is Australia's most commonly inherited disorder.
May 3, 2017
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Fragile X syndrome, the leading inherited cause of intellectual disability, is due to a genetic mutation that largely eliminates the fragile X protein, a critical element of normal brain development and function.
May 17, 2022
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The cotransporter NKCC1 moves sodium, potassium and chloride ions across the cell membrane of many cell types, including intestinal epithelial cells. Two patients with mutations in NKCC1 suffered from severe intestinal dysfunction ...
Apr 22, 2020
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Cerebral edemas are accumulations of fluid into the intra- or extracellular spaces of the brain and it can result from several factors such as stroke or head trauma, among others.
Mar 19, 2012
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Researchers have discovered that a protein that transports sodium, potassium and chloride may hold clues to how glioblastoma, the most common and deadliest type of brain cancer, moves and invades nearby healthy brain tissue. ...
May 1, 2012
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A new drug that inhibits neonatal seizures in rodent models could open up new avenues for the treatment of epilepsy in human newborns. Researchers have identified that gluconate—a small organic compound found in fruit and ...
May 15, 2019
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Researchers studying the root cause of cystic fibrosis have made a major advance in our understanding of silent gene changes with implications for the complexity of cystic fibrosis. The findings are published today in [16 ...
May 17, 2017
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A study in The Journal of General Physiology examines the consequences of muscle activity with surprising results, indicating that the extracellular accumulation of potassium that occurs in working muscles is considerably ...
Jan 17, 2013
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A drug developed to treat genetic diseases such as Duchenne muscular dystrophy and cystic fibrosis may need a radical rethink. In a new study published on 25 June in the open access journal PLOS Biology, researchers question ...
Jun 25, 2013
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