Journal of Clinical Investigation
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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A nanogel-based treatment for lupus
Systemic lupus erythematosus (SLE) is disease in which the immune system mistakenly attacks healthy tissues, resulting in inflammation and tissue damage. Current treatments are focused on suppression of the immune system, ...
Diseases, Conditions, Syndromes
Mar 01, 2013 |
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A coordinated response to cardiac stress
Myocardial hypertrophy, a thickening of the heart muscle, is an adaptation that occurs with increased stress on the heart, such as high blood pressure. As the heart muscle expands, it also requires greater blood flow to maintain ...
Cardiology
Mar 01, 2013 |
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Pulmonary fibrosis: Between a ROCK and a hard place
Pulmonary fibrosis is a scarring or thickening of the lungs that causes shortness of breath, a dry cough, fatigue, chest discomfort, weight loss, a decrease in the ability of the lungs to transmit oxygen to the blood stream, ...
Medical research
Feb 22, 2013 |
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How to mend a broken heart: Advances in parthenogenic stem cells
Parthenogenesis is a form of asexual reproduction during which unfertilized eggs begin to develop as if they had been fertilized. It occurs naturally in many plants and a few invertebrate (some bees, scorpions, parasitic ...
Medical research
Feb 22, 2013 |
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New insight into RASopathy-associated lymphatic defects
The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling.
Diseases, Conditions, Syndromes
Feb 08, 2013 |
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A gut feeling about neural stem cells
Proper function of the digestive system requires coordinated contraction of the muscle in the wall of the intestinal tract, regulated by the enteric nervous system. Damage or loss of these neurons can result in intestinal ...
Medical research
Feb 01, 2013 |
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An important LINC in human hearing
In this issue of the Journal of Clinical Investigation, Karen Avraham and colleagues at Tel Aviv University identified a genetic mutation in two families with hereditary high frequency hearing loss.
Medical research
Jan 25, 2013 |
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Prostate cancer cells thrive on stress
Not surprisingly, a cancer diagnosis creates stress. And patients with prostate cancer show higher levels of anxiety compared to other cancer patients.
Cancer
Jan 25, 2013 |
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Could probiotics help HIV patients?
Antiretroviral (ARV) drugs are the first line therapy for patients with HIV; however, ARV-treated, HIV-infected individuals still have a higher mortality rate than uninfected individuals. During the course of infection, HIV ...
HIV & AIDS
Jan 16, 2013 |
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