News tagged with gene defect
Rare genetic disease successfully reversed using stem cell transplantation
Sep 17, 2009 |
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A recent study by Scripps Research Institute scientists offers good news for families of children afflicted with the rare genetic disorder, cystinosis. In research that holds out hope for one day developing a potential therapy ...
Gene discovery reveals a critical protein's function in hearing
Aug 21, 2009 |
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Discovery of a deafness-causing gene defect in mice has helped identify a new protein that protects sensory cells in the ear, according to a study led by University of Iowa researchers. The findings, which ...
Single gene defect can cause stroke, other artery diseases
May 01, 2009 |
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For the first time, scientists have discovered a single gene defect that causes thoracic aortic aneurysms and dissections as well as early onset coronary artery disease, ischemic stroke and Moyamoya disease. ...
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Research on pigs may lead to answers for human male infertility
Biology /
Feb 09, 2009 |
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In the late 1990s the Finnish Yorkshire pig population was threatened by a genetic defect which spread at an alarming rate and led to infertility. The defective KPL2 gene in porcine chromosome 16 caused pig spermatozoa to ...
Heart attack risk from smoking due to genetics
Dec 19, 2007 |
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Heart attacks among cigarette smokers may have less to do with tobacco than genetics. A common defect in a gene controlling cholesterol metabolism boosts smokers’ risk of an early heart attack, according to a new study in ...
New cataract gene discovered
Feb 14, 2008 |
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The international team of researchers was able to identify the location and defect in the coding region of the gene through analysis of genetic material (DNA) from members of a large Swiss family, the majority ...
Amount of gene surplus determines severity of mental retardation in males
Dec 10, 2009 |
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Researchers have discovered a new explanation for differences in the severity of mental illness in males. The more excess copies of a certain gene, the more serious the handicap. The genetic defect is situated on the X-chromosome; ...
Slimming gene regulates body fat
Nov 02, 2009 |
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Scientists at the University of Bonn, Germany, have discovered a previously unknown fruit fly gene that controls the metabolism of fat. Larvae in which this gene is defective lose their entire fat reserves. Therefore the ...
Discovery of genetic defect may lead to better treatments for common gut diseases
Oct 08, 2009 |
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New findings related to an uncommon genetic disorder may impact the diagnosis and treatment of inflammatory bowel disease (IBD), the most common chronic gastrointestinal illness in children and teens. Two ...
Epilepsy halted in mice
Aug 03, 2009 |
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Scientists at Leeds have prevented epilepsy caused by a gene defect from being passed on to mice offspring - an achievement which may herald new therapies for people suffering from the condition.
Kids with autism may have gene that causes muscle weakness
Apr 13, 2008 |
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Some kids with autism may have a genetic defect that affects the muscles, according to research that will be presented at the American Academy of Neurology 60th Anniversary Annual Meeting in Chicago, April 12–19, 2008.
Fish oil protects against diseases like Parkinson's, study
Apr 19, 2009 |
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Dr. Nicolas Bazan, Director of the Neuroscience Center of Excellence, Boyd Professor, and Ernest C. and Yvette C. Villere Chair of Retinal Degenerative Diseases Research at LSU Health Sciences Center New Orleans, will present ...
Unlikely genetic suspect implicated in common brain defect
Aug 09, 2009 |
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A genetic search that wound its way from patients to mouse models and back to patients has uncovered an unlikely gene critically involved in a common birth defect which causes mental retardation, motor delays ...
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