News tagged with genetic mutations
Related topics: mutations , genes , cancer cells , cancer , proceedings of the national academy of sciences
About 15 percent of patients with Wolfram syndrome do not meet current diagnostic criteria
Researchers at IDIBELL and CIBERER Virginia Nunes and Miguel López de Heredia have collected data from 400 patients with Wolfram syndrome published worldwide in the last fifteen years to better understand the natural history ...
Genetics
Feb 28, 2013 |
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Study revises colorectal cancer risk down and other cancer risks up for women with Lynch Syndrome
Lynch Syndrome is a heritable genetic mutation that causes colorectal, endometrial and other cancers. A cooperative study that included the University of Colorado Cancer Center, published in this month's issue of the Journal of ...
Cancer
Feb 26, 2013 |
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Study reveals how people with a severe unexplained psychological illness have abnormal activity in the brain
Psychogenic diseases, formerly known as 'hysterical' illnesses, can have many severe symptoms such as painful cramps or paralysis but without any physical explanation. However, new research from the University of Cambridge ...
Neuroscience
Feb 24, 2013 |
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Cause of heart arrhythmia discovered using X-rays at CLS
Using powerful X-rays at the Canadian Light Source synchrotron, scientists have reconstructed the scenario of heart arrhythmia in action, making critical progress towards preventing deadly conditions and saving lives.
Medical research
Feb 22, 2013 |
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Molecular basis identified for tissue specific immune regulation in the eye and kidney
Scientists at The University of Manchester have made important advances in understanding why our immune system can attack our own tissues resulting in eye and kidney diseases. It is hoped the research will pave the way for ...
Immunology
Feb 20, 2013 |
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Discovery of previously unknown immunodeficiency
Severe autoimmunity in childhood can be an indication of a primary immunodeficiency (PID) – this has now been demonstrated in a 13-year-old patient by a research group from the MedUni Vienna belonging to ...
Genetics
Feb 19, 2013 |
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Pathway controlling cell growth revealed
A Melbourne-based research team has discovered a genetic defect that can halt cell growth and force cells into a death-evading survival state.
Cancer
Feb 18, 2013 |
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The same genetic defect causes Pompe disease in both humans and dogs
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 ...
Genetics
Feb 15, 2013 |
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Challenge to cancer gene patent fails in Australia
An Australian court Friday dismissed a challenge against the patenting of human genetic material in a landmark case which has devastated a cancer group that says it could stifle research.
Cancer
Feb 15, 2013 |
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Drug shown to reverse radioiodine resistance in some advanced thyroid cancers
The experimental drug selumetinib may allow some patients with advanced thyroid cancer to overcome resistance to radioiodine (RAI), the most effective therapy for the disease, according to new research from Memorial Sloan-Kettering ...
Cancer
Feb 14, 2013 |
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Imaging fish in 3-D : Automated system for high-speed analysis of vertebrate larvae could aid drug development (w/ Video
Zebrafish larvae—tiny, transparent and fast-growing vertebrates—are widely used to study development and disease. However, visually examining the larvae for variations caused by drugs or genetic mutations is an imprecise, ...
Medical research
Feb 13, 2013 |
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Some autism behaviors linked to altered gene
Scientists at Washington University School of Medicine in St. Louis have identified a genetic mutation that may underlie common behaviors seen in some people with autism, such as difficulty communicating ...
Neuroscience
Feb 12, 2013 |
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Consumers have few negative reactions to the results of genetic testing for cancer mutations
A 23andMe study of consumers' reactions to genetic testing found that even when the tests revealed high-risk mutations in individuals, those individuals had few negative reactions to the news. Instead of inducing serious ...
Cancer
Feb 12, 2013 |
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Mouse model improves understanding of clear cell sarcoma
Geneticists led by University of Utah Nobel Prize Laureate Mario R. Capecchi, Ph.D., have engineered mice that develop clear cell sarcoma (CCS), a significant step in better understanding how this rare and deadly soft tissue ...
Cancer
Feb 11, 2013 |
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Colon cancer exhibits a corresponding epigenetic pattern in mice and humans
Tumourigenesis is driven by genetic alterations and by changes in the epigenome, for instance by the addition of methyl groups to cytosine bases in the DNA. A deeper understanding of the interaction between ...
Genetics
Feb 07, 2013 |
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