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<title>Phys.org: Phys.Org news tagged with: mutations</title>
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<description>Phys.org internet news portal provides the latest news on science including: Physics, Nanotechnology, Life Sciences, Space Science, Earth Science, Environment, Health and Medicine.</description>

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     <title>Researchers use yeast to help piece together human genome sequence jigsaw</title>
   	 <description>Using yeast as a model, a team of Spanish researchers has made predictions about how individuals differ from one another by analysing genome sequences.</description>
     <link>http://phys.org/news240740746.html</link>
	 <category>Biology</category>
	 <pubDate>Thu, 17 Nov 2011 08:50:01 EST</pubDate>
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     <title>Analysis of the effects of a cow's genetic predisposition on the composition of its milk</title>
   	 <description>The genetic predisposition of cows has an effect on the fat and protein content of their milk. Researchers at Wageningen University have spent the past few years examining the scope and significance of genetic variation between cows for the differences in quality characteristics of milk. They have discovered a number of genes that contribute to this genetic variation. </description>
     <link>http://phys.org/news160215986.html</link>
	 <category>Biology</category>
	 <pubDate>Wed, 29 Apr 2009 09:27:30 EST</pubDate>
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     <title>PER:PER protein pair required for circadian clock function</title>
   	 <description>(PhysOrg.com) -- Scientists from Queen Mary, University of London have discovered a new protein complex operating in fruit fly circadian clocks, which may also help to regulate our own biological clocks.</description>
     <link>http://phys.org/news160215248.html</link>
	 <category>Biology</category>
	 <pubDate>Wed, 29 Apr 2009 09:14:51 EST</pubDate>
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     <title>New MR technique may help save women from unnecessary breast biopsies</title>
   	 <description>A new MR procedure that uses diffusion-weighted imaging (DWI) to determine whether or not a breast lesion is malignant or benign may help reduce unnecessary breast biopsies, according to a study performed at the National Institute of Health in Bethesda, MD. DWI is a method that produces images detecting the exchange of water molecules between tissue compartments (diffusion).</description>
     <link>http://phys.org/news159713601.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Thu, 23 Apr 2009 13:53:46 EST</pubDate>
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     <title>Genetic source of rare childhood cancer found; gene is implicated in other cancers</title>
   	 <description>The search for the cause of an inherited form of a rare, aggressive childhood lung cancer has uncovered important information about how the cancer develops and potentially sheds light on the development of other cancers.</description>
     <link>http://phys.org/news159465172.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Mon, 20 Apr 2009 16:53:20 EST</pubDate>
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     <title>First noninvasive technique to accurately predict mutations in human brain tumors</title>
   	 <description>Donald O'Rourke, MD, Associate Professor of Neurosurgery at the University of Pennsylvania School of Medicine and colleagues, were able to accurately predict the specific genetic mutation that caused brain cancer in a group of patients studied using magnetic resonance imaging (MRI). The researchers presented their findings this week at the American Association for Cancer Research 100th Annual Meeting 2009.</description>
     <link>http://phys.org/news159461589.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Mon, 20 Apr 2009 15:53:34 EST</pubDate>
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     <title>Autopsy study links prostate cancer to single rogue cell</title>
   	 <description>that's all it takes to begin a series of events that lead to metastatic cancer.  Now, Johns Hopkins experts have tracked how the cancer process began in 33 men with prostate cancer who died of the disease.  Culling information from autopsies, their study points to a set of genetic defects in a single cell that are different for each person's cancer.</description>
     <link>http://phys.org/news159206962.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Fri, 17 Apr 2009 17:09:51 EST</pubDate>
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     <title>Study points to disruption of copper regulation as key to prion diseases</title>
   	 <description>(PhysOrg.com) -- An investigation of a rare, inherited form of Creutzfeldt-Jakob disease suggests that disrupted regulation of copper ions in the brain may be a key factor in this and other prion diseases.</description>
     <link>http://phys.org/news159170135.html</link>
	 <category>Chemistry</category>
	 <pubDate>Fri, 17 Apr 2009 06:55:57 EST</pubDate>
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     <title>Modern life's pressures may be hastening human evolution</title>
   	 <description>We're not finished yet. Even today, scientists say that human beings are continuing to evolve as our genes respond to rapid changes in the world around us. In fact, the pressures of modern life may be speeding up the pace of human evolution, some anthropologists think.</description>
     <link>http://phys.org/news158839250.html</link>
	 <category>Biology</category>
	 <pubDate>Mon, 13 Apr 2009 11:01:44 EST</pubDate>
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     <title>Biologists Discover How 'Silent' Mutations Influence Protein Production</title>
   	 <description>(PhysOrg.com) -- Biologists at the University of Pennsylvania have revealed a hidden code that determines the expression level of a gene, providing a way to distinguish efficient genes from inefficient ones.  The new research, which involved creating hundreds of synthetic green-glowing genes, provides an explanation for how a cell &quot;knows&quot; how much of each protein to make, providing just the right amount of protein to maintain homeostasis yet not too much to cause cell toxicity.</description>
     <link>http://phys.org/news158506251.html</link>
	 <category>Biology</category>
	 <pubDate>Thu, 09 Apr 2009 14:32:27 EST</pubDate>
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     <title>Egyptian toddler contracts bird flu</title>
   	 <description> An Egyptian toddler has contracted bird flu, the 62nd recorded case since the first outbreak of the disease in the country in 2006 and the second this week, state-news agency MENA reported on Friday.</description>
     <link>http://phys.org/news157986197.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Fri, 03 Apr 2009 14:03:45 EST</pubDate>
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     <title>Women with breast cancer family history may cut their risk through regular workout</title>
   	 <description>A new federally funded University of Pennsylvania School of Medicine study aims to learn whether women at high risk of breast cancer can use exercise to meaningfully reduce their risk of getting the disease. Building on evidence that reducing estrogen in the body reduces cancer risk, and that elite female athletes experience a drop in estrogen levels that often cause them to stop ovulating and menstruating, the WISER Sister trial will investigate two different levels of regular treadmill exercise as a possible intervention for breast cancer risk reduction.</description>
     <link>http://phys.org/news157903317.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Thu, 02 Apr 2009 15:02:21 EST</pubDate>
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     <title>Scientists identify gene linked to deadly disorder in newborns</title>
   	 <description>(PhysOrg.com) -- After 12 years of searching, UCLA scientists have tracked down the first known gene mutation responsible for a heartbreaking disorder that kills newborn babies.  Published in the April 1 online edition of the American Journal of Human Genetics, their findings will allow for earlier testing of embryos at risk for the disease.</description>
     <link>http://phys.org/news157807581.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Wed, 01 Apr 2009 12:27:11 EST</pubDate>
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     <title>Getting down to cancer basics</title>
   	 <description>Researchers have identified a new cancer gene - one that is common to many cancers and affects the most basic regulation of our genes. The new example - a gene on the X chromosome called UTX - is found in 10% of cases of multiple myeloma and 8% of esophageal cancers.</description>
     <link>http://phys.org/news157559436.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Sun, 29 Mar 2009 15:31:14 EST</pubDate>
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     <title>Egypt toddler contracts bird flu</title>
   	 <description> A two-year-old Egyptian girl has contracted bird flu, the 60th reported case since the first outbreak of the disease in the country in 2006, a health ministry spokesman said on Saturday.</description>
     <link>http://phys.org/news157453152.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Sat, 28 Mar 2009 09:59:55 EST</pubDate>
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     <title>Pilgrims' progress: Genetic data from 1630s backs health benefits of cancer screening</title>
   	 <description>In the 1630s, the Fry family came to the New World with more than just dreams of prosperity and freedom — they also came with a genetic mutation that increased the likelihood of colon cancer in hundreds, if not thousands, of their descendants. The scientists who traced that gene back almost 370 years are now reporting that routine screening and education can prevent people with the mutated gene from developing cancer.</description>
     <link>http://phys.org/news157212038.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Wed, 25 Mar 2009 15:01:06 EST</pubDate>
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     <title>Recently identified genetic heart disorder often deadly for young patients</title>
   	 <description>A study that included young patients with a recently recognized rare type of cardiomyopathy (a disorder of the heart muscle) linked to a genetic mutation finds that progression of this disease may be rapid and often results in early death, according to a study in the March 25 issue of JAMA.</description>
     <link>http://phys.org/news157134083.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Tue, 24 Mar 2009 17:21:49 EST</pubDate>
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     <title>First treatment for muscular dystrophy in sight: Scientists successfully harness exon-skipping</title>
   	 <description>Genetic researchers at Children's National Medical Center and the National Center of Neurology and Psychiatry in Tokyo published the results of the first successful application of &quot;multiple exon-skipping&quot; to curb the devastating effects of Duchenne muscular dystrophy in an animal larger than a mouse. Multiple exon-skipping employs multiple DNA-like molecules as a &quot;DNA band-aids&quot; to skip over the parts of the mutated gene that block the effective creation of proteins.</description>
     <link>http://phys.org/news156435829.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Mon, 16 Mar 2009 15:25:36 EST</pubDate>
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     <title>Blood brothers: Spanish newborn helps heal sibling</title>
   	 <description> A Spanish boy with a serious form of anemia has recovered after a groundbreaking procedure using blood from the umbilical cord of his genetically-selected brother, authorities said Friday.</description>
     <link>http://phys.org/news156163100.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Fri, 13 Mar 2009 11:39:07 EST</pubDate>
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     <title>Scientists create mouse model of melanoma that generates hope for the use of targeted therapies</title>
   	 <description>Researchers have developed a new mouse model that allows them to replicate normal pigment cells at the earliest stages of conversion to malignant skin cancer in humans. After testing the mouse with a combination of two drug therapies, the team found the treatment caused a statistically significant regression in cancer cell development.</description>
     <link>http://phys.org/news156094787.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Thu, 12 Mar 2009 16:40:11 EST</pubDate>
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     <title>Variant form of amyloid beta hinders amyloidogenesis, development of Alzheimer's disease</title>
   	 <description>Alzheimer's disease causes misfolding and aggregation of a protein fragment known as amyloid beta and its deposition as plaques in the brain. This process triggers a cascade of event that leads to neurodegeneration. A new study has found that the deadly transformation of amyloid beta into neurotoxic aggregates can be prevented through its interaction with a variant form of the amyloid beta itself. This opens up new prospects for therapies for the disease.</description>
     <link>http://phys.org/news156088909.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Thu, 12 Mar 2009 15:02:34 EST</pubDate>
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     <title>Parkinson's-linked mutation makes neurons vulnerable to calcium-induced death</title>
   	 <description>A new study reveals the mechanism by which a genetic mutation linked with Parkinson's disease (PD) renders dopamine neurons particularly vulnerable to cell injury and death. The research is published by Cell Press in the March 13th issue of the journal Molecular Cell.</description>
     <link>http://phys.org/news156085299.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Thu, 12 Mar 2009 14:02:12 EST</pubDate>
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     <title>New test successfully identifies life-threatening heart disease</title>
   	 <description>A study led by investigators at Beth Israel Deaconess Medical Center (BIDMC) has demonstrated that a new immunohistochemical test is reliable in diagnosing  a dangerous arrhythmic heart disease known as arrhythmogenic right ventricular cardiomyopathy (ARVC.) Reported in the March 12 issue of The New England Journal of Medicine (NEJM), the new findings offer the possibility of a highly sensitive and specific means of identifying this life- threatening condition at an early stage, when it can be treated with by implanting a cardiac defibrillator.</description>
     <link>http://phys.org/news156013932.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Wed, 11 Mar 2009 18:12:50 EST</pubDate>
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     <title>Mutation of BRCA gene influences women's views of preventive mastectomy</title>
   	 <description>Women whose cells harbor harmful mutations in the BRCA genes are likely to view preventive mastectomy as the best way to reduce their risk and fears of developing breast cancer, despite other, less drastic options available. That is the conclusion of a new study published in the April 1, 2009 issue of CANCER, a peer-reviewed journal of the American Cancer Society. The study's findings could help physicians and other clinicians as they discuss test results with women who undergo BRCA gene testing.</description>
     <link>http://phys.org/news155810166.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Mon, 09 Mar 2009 09:36:59 EST</pubDate>
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     <title>Researchers discover gene mutations that cause childhood brain cancer</title>
   	 <description>Researchers funded by the Canadian Cancer Society have discovered eight similar genes that, when mutated, appear to be responsible for medulloblastoma - the most common of childhood brain cancers. The findings are published today in the online edition of the journal Nature Genetics.</description>
     <link>http://phys.org/news155749926.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Sun, 08 Mar 2009 16:52:53 EST</pubDate>
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     <title>New Stanford list of HIV mutations vital to tracking AIDS epidemic</title>
   	 <description>In a collaborative study with the World Health Organization and seven other laboratories, researchers at the Stanford University School of Medicine have compiled a list of 93 common mutations of the AIDS virus associated with drug resistance that will be used to track future resistance trends throughout the world.</description>
     <link>http://phys.org/news155558471.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Fri, 06 Mar 2009 10:41:53 EST</pubDate>
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     <title>'Personalized' genome sequencing reveals coding error in gene for inherited pancreatic cancer</title>
   	 <description>Scientists at the Sol Goldman Pancreatic Cancer Research Center at the Johns Hopkins Kimmel Cancer Center have used &quot;personalized genome&quot; sequencing on an individual with a hereditary form of pancreatic cancer to locate a mutation in a gene called PALB2 that is responsible for initiating the disease.  The discovery marks their first use of a genome scanning system to uncover suspect mutations in normal inherited genes.</description>
     <link>http://phys.org/news155484949.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Thu, 05 Mar 2009 14:16:20 EST</pubDate>
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     <title>Cats' eye diseases genetically linked to diseases in humans</title>
   	 <description>About one in 3,500 people are affected with retinitis pigmentosa (RP), a disease of the retina's visual cells that eventually leads to blindness. Now, a University of Missouri researcher has identified a genetic link between cats and humans for two different forms of RP. This discovery will help scientists develop gene-based therapies that will benefit both cats and humans.</description>
     <link>http://phys.org/news155395035.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Wed, 04 Mar 2009 13:17:57 EST</pubDate>
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     <title>Newly discovered gene plays vital role in cancer</title>
   	 <description>(PhysOrg.com) -- Gene p53 protects against cancer and is usually described as the most important gene in cancer research. However, scientists at the Swedish medical university Karolinska Institutet have now shown that a previously unknown gene, Wrap53, controls the activity of p53. As the regulation mechanism is relatively unexplored, the study opens up new routes to solving the mystery of cancer.</description>
     <link>http://phys.org/news154959805.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Fri, 27 Feb 2009 12:26:11 EST</pubDate>
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     <title>Study identifies new gene associated with ALS</title>
   	 <description>A collaborative research effort spanning nearly a decade between researchers at Massachusetts General Hospital (MGH) and King’s College London (KCL) has identified a novel gene for inherited amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease). This is the fourth gene associated with familial forms of the devastating neurological disorder. Two papers, published in the February 27 edition of Science, report mutations in FUS/TLS, a gene known to play a role in DNA repair and the regulation of gene expression. The mutations affect the behavior of the FUS/TLS protein within cells and lead to deposits of abnormal protein within motor neurons. </description>
     <link>http://phys.org/news154880974.html</link>
	 <category>Medicine &amp; Health</category>
	 <pubDate>Thu, 26 Feb 2009 14:30:17 EST</pubDate>
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