... the first time, scientists have discovered a single gene defect that causes thoracic aortic aneurysms and ... none of the family members without the ACTA2 defect had any vascular disease, helping to rule ...
... using a technique called RNA interference to knock out the function of each gene, they were able to determine how gene defects may contribute to mitochondrial diseases.
The study team found that one ...
... action of COMT is central to proper vascular function in the placenta,” notes Kalluri. “This study offers the possibility of screening for COMT gene defects in pregnant women to predict preeclampsia.”
... and elongated head of ancient Egypt’s King Akhenaten may be attributed to two genetic defects called aromatose excess syndrome and craniosynostosis, said Yale School of Medicine dermatology professor ...
... syndrome (NBS). Both disorders arise from defects in a central component of the cell's machinery that repairs ... mouse models of each the diseases to analyze how the gene defects in ATLD and NBS give rise ...
CHAPEL HILL, N.C., May 18 (UPI) -- U.S. cancer researchers say they've determined that defects in a specific gene might eventually lead to breast cancer.
... against cancer no longer works adequately. A Dutch researcher set out to find the genes responsible for ... discovered a new FA gene and established that FA gene defects could also cause cancer in people ...
... other scientists to develop drugs or gene therapies that can treat the diseases. For example, if a particular gene defect causes poorly constructed connections between certain neurons, a drug might ...
... group now supports the idea that the HPRT gene defects cause neurological problems by directly ... research identified a number of abnormally expressed genes in HPRT-deficient mice and in human HPRT- ...
Discovery of a deafness-causing gene defect in mice has helped identify a new protein that protects ... proper distribution of potassium in the inner ear.
"Genes in the claudin family number at least 24 ...
... infections. Some patients also develop gastrointestinal inflammation, as occurred in the patient in whom the new gene defect was discovered. CGD, which occurs in 1 in 200,000, is usually diagnosed in ...
STANFORD, Calif., Oct. 15 (UPI) -- U.S. scientists say they've discovered how the absence of a gene associated with autism and schizophrenia influences the behavior of mice.
A recent mouse study found a genetic defect that may be responsible for type 1 diabetes – if it works the same way in humans.
LONDON (Reuters) - An international research team has pinpointed a genetic mutation that can raise a healthy person's blood sugar to harmful levels, putting them at higher risk of serious problems ...
... disease. Much of its work builds on pioneering research by Charles A. Stanley, M.D., in identifying the specific gene defects that cause HI. Stanley is a co-author of the current study ...
