A new role for cohesin in regulating alternative splicing has been identified, providing insights into splicing mutations in human disease.
A new Brown University computer analysis that predicts the effect of genetic mutations on how the body splices mRNA indicates as many as a third of disease-related mutations may be linked to splicing problems -- more than ...
Jun 13, 2011
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A new study demonstrates the dynamic role cilia play in guiding the migration of neurons in the embryonic brain. Cilia are tiny hair-like structures on the surfaces of cells, but here they are acting more like radio antennae.
Nov 12, 2012
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Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, ...
Feb 15, 2013
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Trinity College Dublin researchers have found that one in 347 men and one in 436 women can be expected to develop motor neurone disease during their lifetime. Motor neurone disease (MND) is a devastating condition which causes ...
Jul 23, 2019
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Initially the occurrence of progressive retinal degeneration - progressive retinal atrophy, in man called retinitis pigmentosa - had been identified in Schapendoes dogs. Retinitis pigmentosa is the most common hereditary ...
Jun 22, 2011
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Gene mutations accumulating in cells are typical of the development of cancer. Finnish researchers have found that a similar accumulation of mutations occurs also in some patients with rheumatoid arthritis.
Jun 21, 2017
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Treating women with early stage breast cancer with a combination of chemotherapy and the molecularly targeted drug Herceptin significantly increases survival in patients with a specific genetic mutation that results in very ...
Oct 5, 2011
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(HealthDay)—Iressa (gefitinib) has been approved by the U.S. Food and Drug Administration to treat patients with metastatic non-small-cell lung cancer (NSCLC) with a specific genetic mutation (epidermal growth factor receptor ...
Jul 14, 2015
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In a paper published in the Nov. 9 issue of the Journal of Neuroscience, researchers at the University of California, San Diego School of Medicine and University of Washington describe in deeper detail the pathology of a ...
Nov 9, 2011
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