News tagged with mutated protein
Further support for a role of synaptic proteins in autism spectrum disorders
A new study combines genetic and neurobiological approaches to confirm that synaptic mutations increase the risk of autism spectrum disorders (ASDs). It also highlights a role for modifier genes in these disorders. Published ...
Feb 09, 2012 |
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Same genes linked to early- and late-onset Alzheimer's disease
The same gene mutations linked to inherited, early-onset Alzheimer's disease have been found in people with the more common late-onset form of the illness.
Feb 01, 2012 |
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DGK-alpha helps cancer cells gain traction and mobilize
Metastasizing cancer cells often express integrins that provide better traction. A new study in The Journal of Cell Biology reveals how a lipid-converting enzyme helps the cells mobilize these integrins.
Jan 23, 2012 |
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Researchers find mutation causing neurodegeneration
A Jackson Laboratory research team led by Professor and Howard Hughes Medical Investigator Susan Ackerman, Ph.D., has discovered a defect in the RNA splicing process in neurons that may contribute to neurological disease.
Jan 19, 2012 |
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Method identifies mutations that drive genetic diseases
(PhysOrg.com) -- For the first time, a new computational method allows researchers to identify which specific molecular mechanisms are altered by genetic mutations in proteins that lead to disease. And they ...
Jan 19, 2012 |
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Massive DNA search uncovers new mutations driving blood cancer
The most comprehensive search to date of DNA abnormalities in chronic lymphocytic leukemia (CLL) has unearthed several new altered genes that drive this common blood cancer, a finding that could potentially ...
Dec 12, 2011 |
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Disease progression halted in rat model of Lou Gehrig's disease
Amyotrophic lateral sclerosis (ALS; also known as Lou Gehrig's disease) is an incurable adult neurodegenerative disorder that progresses to paralysis and death. Genetic mutations are the cause of disease in 5% of patients ...
Dec 12, 2011 |
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How brain tumors invade
Scientists have pinpointed a protein that allows brains tumors to invade healthy brain tissue, according to work published this week in the Journal of Experimental Medicine.
Dec 12, 2011 |
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Proteins linked to longevity may be involved in mood control
(Medical Xpress) -- Over the past decade, MIT biologist Leonard Guarente and others have shown that very-low-calorie diets provoke a comprehensive physiological response that promotes survival, all orchestrated by a set of ...
Dec 09, 2011 |
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Cancer-related pathway reveals potential treatment target for rare pediatric disease
Cancer researchers studying genetic mutations that cause leukemia have discovered a connection to the rare disease cherubism, an inherited facial bone disorder in children.
Dec 08, 2011 |
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Cell surface mutation protects against common type of malaria
A mutation on the surface of human red blood cells provides protection against malaria caused by the parasite Plasmodium vivax, research led by Case Western Reserve University School of Medicine shows.
Dec 01, 2011 |
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Sickle cell anemia as malaria defense
Sickle cell anemia causes pain, fatigue and delayed growth, all because of a lack of enough healthy red blood cells. And yet genetic mutations that cause it - recessive genes for the oxygen-carrying hemoglobin protein - have ...
Nov 30, 2011 |
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Cystic fibrosis drug reverses genetic abnormality in the CF mutation
The Lung Institute of WA (LIWA) has recently made a breakthrough in the search for a drug to improve the quality of life of patients with Cystic Fibrosis (CF).
Nov 28, 2011 |
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Neurons grown from skin cells may hold clues to autism
Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge "disease-in a-dish" ...
Nov 27, 2011 |
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Neuroscientists find that two rare autism-related disorders are caused by opposing malfunctions in the brain
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Medicine & Health / Neuroscience
Nov 24, 2011 |
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