News tagged with journal of clinical investigation
Related topics: protein , mouse model , cells , cancer cells , immune system
Researchers untangle molecular pathology of giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation ...
Neuroscience
Apr 15, 2013 |
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Protecting against aging at the molecular level
Research from Western University and Lawson Health Research Institute sheds new light on a gene called ATRX and its function in the brain and pituitary. Children born with ATRX syndrome have cognitive defects and developmental ...
Medical research
Apr 08, 2013 |
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Researchers identify transcription factors that regulate retinal vascularization
The retina is a highly vascularized tissue, but too much or too little vascularization can lead to visual impairment and diseases such as familial exudative vitreoretinopathy or macular degeneration. In this issue of the ...
Medical research
Apr 08, 2013 |
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Researchers identify mutation that causes short-sightedness and hearing loss
(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to ...
Genetics
Apr 08, 2013 |
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Brain-building gene plays key role in gut repair
(Medical Xpress)—A gene with a colorful name – mindbomb 1 – plays a key role far beyond the brain. New research at Washington University School of Medicine in St. Louis shows that mindbomb 1 may be ...
Genetics
Apr 05, 2013 |
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Newly approved blood thinner may increase susceptibility to some viral infections
A study led by researchers at the University of North Carolina indicates that a newly approved blood thinner that blocks a key component of the human blood clotting system may increase the risk and severity of certain viral ...
Medical research
Apr 01, 2013 |
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Alternative fuel for your brain
Tight control of blood glucose levels is critical to mitigating the long-term complications of diabetes; however, the intensive insulin therapy required for this control is frequently accompanied by recurrent episodes of ...
Medical research
Apr 01, 2013 |
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Promoting muscle regeneration in a mouse model of muscular dystrophy
Duchenne muscular dystrophy (DMD) is a degenerative skeletal muscle disease caused by mutations in the protein dystrophin. Dystrophin functions to protect muscle cells from injury and loss of functional dystrophin results ...
Medical research
Apr 01, 2013 |
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Researchers decode biology of blood and iron disorders mapping out novel future therapies
Two studies led by investigators at Weill Cornell Medical College shed light on the molecular biology of three blood disorders, leading to novel strategies to treat these diseases.
Medical research
Mar 25, 2013 |
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Exploring the cause of sudden unexplained death in epilepsy
Dravet syndrome (DS) is a form of infantile-onset, treatment-resistant epilepsy that is caused by a mutation in the gene encoding a voltage-gated sodium channel, SCN1A. DS patients have a 30-fold increased risk of dying from ...
Medical research
Mar 25, 2013 |
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Lymphatic vasculature: A cholesterol removal system
Reverse cholesterol transport is a process in which accumulated cholesterol is removed from tissues, including the artery wall, and transported back to the liver for excretion. Little is known about how cholesterol is removed ...
Medical research
Mar 25, 2013 |
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Sorting out fertility after childhood cancer
As success rates in treating childhood cancers have improved, greater emphasis is being placed on quality of life issues following successful treatment. Many cancer treatments can lead to infertility, but there are few methods ...
Cancer
Mar 15, 2013 |
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Cytoskeletal dysregulation underlies Buruli ulcer formation
Mycobacterium ulcerans infects the skin and subcutaneous tissues and secretes a lipid toxin, mycolactone, which causes open skin lesions, known as Buruli ulcers.
Medical research
Mar 15, 2013 |
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Enhanced brain acetate metabolism may reward heavy drinkers
In addition to its well-known effects on the CNS, alcohol consumption has a significant impact on metabolism. After consumption, the body rapidly begins converting ethanol to acetate, which can serve as an energy source for ...
Addiction
Mar 08, 2013 |
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Full wired: Planar cell polarity genes guide gut neurons
The enteric nervous system (ENS), the "little brain" that resides within the gut wall, governs motility, secretion, and blood flow in the human gastrointestinal tract. Failure of the ENS to develop normally leads to congenital ...
Medical research
Mar 08, 2013 |
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