Researchers find controlling element of Huntington's disease
A three molecule complex may be a target for treating Huntington's disease, a genetic disorder affecting the brain. This finding by an international research team including scientists from the German Center for Neurodegenerative ...
Diseases, Conditions, Syndromes
Feb 26, 2013 |
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Why living against the clock is a risky business
Living against the clock—working late-night shifts or eating at inappropriate times, for example—can come with real health risks, metabolic syndrome, obesity, and diabetes among them. Now, researchers reporting in Current Bi ...
Medical research
Feb 21, 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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Researchers find possible genetic clues to organ development, birth defects (w/ Video)
(Medical Xpress)—Using cutting-edge time-lapse photography, University of Southern California (USC) researchers have discovered clues to the development of the head at the cellular level, which could point scientists to ...
Medical research
Feb 11, 2013 |
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Experimental gene therapy treatment for Duchenne muscular dystrophy offers hope for youngster
Jacob Rutt is a bright 11-year-old who likes to draw detailed maps in his spare time. But the budding geographer has a hard time with physical skills most children take for granted—running and climbing trees are beyond ...
Genetics
Feb 07, 2013 |
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Scientists find protein that reins in runaway network
Marked for death with molecular tags that act like a homing signal for a cell's protein-destroying machinery, a pivotal enzyme is rescued by another molecule that sweeps the telltale targets off in the nick of time.
Medical research
Jan 22, 2013 |
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Study points to a safer, better test for chromosomal defects in the fetus
A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a study published ...
Genetics
Jan 10, 2013 |
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Genetic defect causing fragile X-related disorders more common than thought
A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Genetics
Dec 20, 2012 |
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A genetic defect in sex cells may predispose to childhood leukemia
Researchers at the Sainte-Justine University Hospital Center and the University of Montreal have found a possible heredity mechanism that predisposes children to acute lymphoblastic leukemia (ALL), the most ...
Genetics
Dec 17, 2012 |
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Faulty gene linked to condition in infants
(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading ...
Genetics
Dec 12, 2012 |
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Biologists achieve repair and read-through of stop mutations responsible for Usher syndrome
After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to ...
Genetics
Dec 04, 2012 |
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International study points to inflammation as a cause of plaque buildup in heart vessels
Fifteen new genetic regions associated with coronary artery disease have been identified by a large, international consortium of scientists—including researchers at the Stanford University School of Medicine—taking a ...
Genetics
Dec 02, 2012 |
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In new study, common drug reverses common effect of Becker muscular dystrophy
Cedars-Sinai Heart Institute researchers have found in an initial clinical trial that a drug typically prescribed for erectile dysfunction or pulmonary hypertension restores blood flow to oxygen-starved muscles in patients ...
Medical research
Nov 28, 2012 |
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Brain displays an intrinsic mechanism for fighting infection
(Medical Xpress)—White blood cells have long reigned as the heroes of the immune system. When an infection strikes, the cells, produced in bone marrow, race through the blood to fight off the pathogen. ...
Medical research
Nov 19, 2012 |
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Surprising genetic link between kidney defects and neurodevelopmental disorders in kids
About 10 percent of kids born with kidney defects have large alterations in their genomes known to be linked with neurodevelopmental delay and mental illness, a new study by Columbia University Medical Center (CUMC) researchers ...
Genetics
Nov 15, 2012 |
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