Study describes basic mechanism in cell growth control involving damaged DNA
...pigmentosum, a rare hereditary disease involving a defect in DNA repair mechanisms induced by ultraviolet ra... cancer, but its abundance in the cell may cause a defect in the checkpoint pathway. And that's what we're studying now," said Xiong....Acoustics meeting in San Diego
...ion, also can potentially characterize the type of defect qualitatively (e.g., fatigue cracks) and quantitatively (e.g., percentage porosity, crack size, etc.). Such a technique may lead to more sophisticated quality control in the manufacture of these state-of the-art airplanes. (4aSA3) OCEAN NOISE AND ...Gene-altered mouse is model for rare autoimmune syndrome
...er applied to this animal model. For example, the defect in Id3 may cause different effects in different strains of mice with other genetic deficiencies -- offering even further opportunity for understanding the intricacies of immune system development. Zhuang and his colleagues are also collaborating...Gene for Joubert syndrom with excessive brain folds discovered by UCSD researchers and Harvard team
...y exciting finding because it is the first genetic defect clearly associated with this condition. Although Joubert Syndrome is relatively rare, we think that the genes causing this condition are going to underlie more common childhood brain and behavioral abnormalities, such as autism, mental retardation, ...Single genetic defect links many risk factors for heart disease and stroke
... lineage." Such a pattern immediately suggested a defect in the mitochondrial genome, because those genes a...d a specific mutation in all affected people. That defect was the substitution of a single DNA unit, or base, in the gene that coded for a specific transfer R...Singled out: Spotting mutant neurons in normal brains offers clues to Fragile X
...en this molecular function and the Fragile X brain defect has remained a mystery. Employing a fruit fly model of the disease, the researchers utilized a new technique that allows the generation of single mutant nerve cells that are marked by their expression of a glowing fluorescent protein, making these ne...NIH funds rare childhood disease to provide insights into the origins of adult cancer
...50 percent of DBA patients have at least one birth defect and that there is an increased risk for cancer later in life. "While Diamond Blackfan anemia is rare, it carries an increased risk for some cancers, giving us a new approach for examining the origins of cancer susceptibility," said Jeffrey M. Lipto...Research team discovers possible genetic mechanism behind congenital heart defects
...pressed just half of the protein, the result was a defect that resembled one seen in infants," added Dr. Bruneau, also Canada Research Chair in Developmental Cardiology and member of U of T's Heart & Stroke/Richard Lewar Centre of Excellence. Using a novel way of reducing gene function called in vitro RNAi,...Pediatric cardiology researchers describe findings in neurologic outcomes, heart devices
...rgery. This study found that children with a heart defect called tetralogy of Fallot were more likely to have worse neurological outcomes following surgery if they also had a genetic syndrome or a particular variant of a gene. Children with tetralogy of Fallot are born with multiple abnormal heart structure...Researchers discover molecular timekeeper in bone development
...e bone-formation process, they discovered that the defect was in the earliest steps, where the cartilage foundation was being laid and filled with minerals. Before the foundation was complete, minerals were being deposited too soon, allowing bone to harden before it was ready. ...New gene therapy promising for treating Fabry disease
...inistered a day or two after birth can correct the defect long term in Fabry mice, ensuring they produce the appropriate enzyme at relevant levels. Further testing will be required before the therapy can be tried in humans. "Our previous strategies targeted genetic correction of the disease in adult anima...JCI table of contents, November 15 2004
...usly unknown whether this was an inherited genetic defect or the result of environmental triggers. ...kin cells from patterned skins lesions possessed a defect in the gene ATP2C1, which encodes a calcium pump protein, present on the chromosome derived from the...Researchers piece together the puzzle of Hailey-Hailey skin disease
...kin cells from patterned skins lesions possessed a defect in the gene ATP2C1, which encodes a calcium pump p...ormal form of this gene, would compensate for this defect and result in the remaining skin cells being normal. However, in this case, the chromosome obtained ...Aging affects susceptibility to type 2 diabetes
...usly unknown whether this was an inherited genetic defect or the result of environmental triggers. T2DM is caused by the development of insulin resistance in muscle and liver coupled with the progressive failure of beta cells in the pancreas to produce sufficient quantities of insulin to overcome the increa...Other highlights in the November 17 JNCI
...cle, and the p53 gene is the most frequent genetic defect in human tumors. The protein Pirh2 was recently discovered to negatively regulate p53 by targeting the protein for degradation. In a new study of human and mouse lung tumors, Miguel A. Villalona-Calero, M.D., of Ohio State University in Columbus, and...Genetic defect confers risk of major depression, resistance to SSRI drug therapy
DURHAM, N.C. A newly discovered genetic defect might represent an important risk factor for major...on in some patients with depression." The genetic defect is the first genetic variant of functional consequence in the production of serotonin identified in ...Stowers researcher publishes DNA double-strand break repair discovery in Science
...arker phospho-H2A.X/v to signal the cell that this defect has been successfully repaired. "These findings answer fundamental questions about DNA double-strand break repair," says Robb Krumlauf, Ph.D., Scientific Director of the Stowers Institute. "They may ultimately help to formulate new strategies o...Combined stem cell-gene therapy approach seen as potential treatment for cystic fibrosis
...cause infection. Finding ways to correct the gene defect responsible for CF has been the focus of much research and some clinical studies are even looking at gene therapy approaches. To date, no studies have evaluated the potential of adult stem cells or the use of stem cells in combination with ex vivo ge...Enzyme allows B cells to resist death, leading to leukemia
...es of disease, B-CLL is the result of an undefined defect in the programmed signals that trigger normal B cell death (apoptosis). Livio Trentin and colleagues from Padua University School of Medicine now demonstrate that high levels of expression and altered cellular location of an enzyme in B cells known a...Current human embryonic stem cell lines contaminated UCSD/Salk team finds
... called "feeder cells" from mice with a human-like defect in Neu5Gc production. They noted that they have recently produced such a mouse. Another possibility being attempted by groups in other parts of the world is to use human embryo-derived connective tissue cells as the feeder layer in the culture. A ...