Researchers determine genetic cause of Timothy syndrome
...der, "it certainly is a reasonable hypothesis that abnormal calcium signaling could contribute to the disorder in some cases," he said. ...New study indicates arsenic could be suitable as first-line treatment in type of leukaemia
...od cells, characterized by a rapid accumulation of abnormal white cells in the bone marrow and the blood, resulting in anaemia, bleeding and susceptibility to infections. It occurs in people of all ages, although it is more common in older people. The five-year survival rate for patients receiving the current...UT Southwestern biochemist honored with NIH Director's Pioneer Award
...ck" functions have a broad range of outcomes, from abnormal eating and sleeping patterns to signs of depression. Studies of the genetic link to sleep patterns may help researchers better understand and treat insomnia and other sleep-related disorders, while a clearer picture of the relationship between cir...Marijuana use could cause tubal pregnancies
... pregnancy failure. In support of this hypothesis, abnormal muscular contraction that prevents human embryos from reaching the uterus is one known cause of ectopic pregnancy, Dey said. Polymorphisms (different forms) of the CB1 gene have been associated with drug dependency in humans. Dey and his colleagues p...Study explores gene transfer to modify underlying course of Alzheimer's disease
...everity, the density of amyloid plaques (which are abnormal protein deposits in the brains of patients with Alzheimer's disease), and loss of synapses in the brains of Alzheimer's disease patients. Alzheimer's disease is a common disease in aging, currently affecting approximately 4.5 million Americans. The...Experimental drug shown to block mutant protein causing blood disease
...orms of cancer. Because inhibitor drugs strike the abnormal kinases in cancer cells without harming normal tis... the first drugs to treat cancers by shutting down abnormal kinase signal switches. Gleevec blocks uncontrolled growth signals in Chronic Myelogenous Leukemia a...Key stimulator of colorectal cancer identified
...otes cell survival and polyp formation. Polyps are abnormal growths in the colon and rectum that are believed ...nd that agents which stimulate PPARd may encourage abnormal cell growth in certain populations at risk for CRC. In addition, it is possible that blocking PPARd ...Research suggests new avenue for stopping, preventing colon cancer
... that drugs that activate PPARdelta "may encourage abnormal cell growth in certain populations at risk for colorectal cancer," DuBois cautioned. DuBois credited Sudhansu K. Dey, Ph.D., who directs the division of Reproductive and Developmental Biology at Vanderbilt, with maintaining the PPARdelta "knockout" m...Protein is key for digestive function of the pancreas
...ogy of the pancreas and provides some insight into abnormal processes that may lead to pancreatic disease. Wh...s. This suggests that VAMP8 may be involved in the abnormal secretion of digestive enzymes associated with pancreatitis. Further research is needed to establis...Spontaneous mutation produces new MAO A/B knockout mouse
...sult in irregular neurotransmitter levels, causing abnormal behavior. Realizing the connection between neurotransmitter levels and behavior, psychiatrists routinely use MAO A inhibitors as antidepressants and MAO B inhibitors for Parkinson's disease. By making knockout mice lacking either MAO A or MAO B, Jean...Disruption of protein-folding causes neurodegeneration, mental retardation
... need to perform their recycling tasks, leading to abnormal accumulation of the molecules the lysosome is supposed to break down. These diseases are responsible for most severe cases of nerve degeneration and mental retardation among children. The discovery identifies for the first time the endoplasmic retic...Common cold virus can cause polio in mice when injected into muscles
...e began to display symptoms of polio, including an abnormal gait, dropfoot, and lower hind limb paresis. The researchers were left wondering how this intramuscular portal of entry could affect the virus's ability to access the types of cells normally infected by polio. In studying the virus' action within inf...Optimizing protein's 'death domain' halts leukemia in laboratory study
...rwhelms the system when it is trying shut down the abnormal cell, causing the cell to reproduce, dangerously out of control, when it should be dying. The pro-death part of the apoptosis toolbox includes a number of molecules known as BH3-only proteins. To ensure that cells destroy themselves when appropriate,...Rare deficit maps thinking circuitry
...cation conspicuously just before the functionally abnormal areas raised suspicions; and a path analysis conf...nted for by defective input from this structurally abnormal area. The researchers hypothesize that it is likely the primary site of the visuospatial constructio...Veterinarians discover first known case of canine distemper in a wild tiger
...gress that wandered into a Russian town exhibiting abnormal behavior had the disease, which is fatal in cats. It is suspected that the tiger caught the disease from an infected domestic dog. Despite heroic efforts to save her, the tiger died. "With less than 500 Siberian tigers left in the wilds of Russia, ...Mouse study shows NPAS3 and NPAS1 genes may be linked to psychosis
...ne this week. "It's too early to tell whether the abnormal behavior we observed in these mutated mice can be directly connected with human disease. On the other hand, we find it intriguing that members of a Canadian family carrying a mutation in the human NPAS3 gene have been reported to suffer from schizo...Genetic clues found for common congenital brain disorder
...15 percent of the mice that had one normal and one abnormal version of both ZIC1 and ZIC4 had abnormalities in the cerebellum that were very similar to the brains of patients with Dandy-Walker. They also lacked coordination and were unable to right themselves if they fell over. Although the authors conclude...New model can aid in understanding immune system diseases
... too well," Bishop said. "The viral protein causes abnormal survival and activation of these B cells." Lymph ...reveal whether the normal protein can suppress the abnormal protein, a function which, if it exists, could be useful in the development of therapeutics. In add...New mechanism for display of foreign proteins to immune system
...system to the presence of virus infected cells and abnormal cells like cancer cells. The findings provide new ...T lymphocytes to spring into action and battle the abnormal cells. One of the ways that sentinel cells accomplish crosspresentation has been described in detail...Stanford researcher's findings may shed light on common, deadly birth defect
...le problems within the skull: a cleft lip or other abnormal facial features can read like a map of brain development gone awry. Now for the first time, researchers at the Stanford University School of Medicine and the University of California-San Francisco have provided a powerful example of how one genetic p...