Knockout Mouse Reveals Genetic Mechanism In Defective Mammalian Ear Development
... the team that reported last year on developmental defects inJagged2 knockout mice from The Jackson Laboratory. He describes the pathway --first studied in the fruit fly -- as a molecular mechanism that mediatescommunication between cells as they differentiate during embryonic development.In humans, Notch pa...Researchers Discover Genetic Mutation For Rare Form Of Dwarfism
...arkedly impaired. The study suggests that defects in the receptor may be a more commoncause of growth hormone deficiency than previously suspected, Levine says. "This family serves as a living laboratory for diagnostic tests andtreatment to bypass the broken signaling pathways and restore gr...Heavy Traffic At The Nuclear Pore: How Proteins And RNA Leave The Cell Nucleus
...nce the proper regulation of the cell cycle.Subtle defects may thus have consequences for health and disease of the completeorganism....Genetic Mutations Linked To Rare Metabolic Disease
... who first describedit, the defects prevent the normal absorption of vitamin B-12.If left untreated, the disease can be fatal. While serious, the syndrome is exceedingly rare -- only one person in amillion may develop...UI Study Reveals Important Information About Molecular Defect In Limb Girdle Muscular Dystrophy
...ups. Despite rapid advances regarding the genetic defects that cause limb girdlemuscular dystrophy, researchers know little about the molecular defectsunderlying the disease. Through their cell culture model, Campbell and Holt wereable to show that complete assembly of the sarcoglycan complex is dependent o...New Gene May Help Scientists Understand More About How the Body Grows
... could lead to new strategies for preventing birth defects in humanbeings and for repairing defects in the human nervous system. This study was supported by Genetics Institute, the National Science ...Scientists Discover Function For Type III TGF-Beta Receptor
...art defects. In fact, many affected children have defects in valves or septathat can be explained by failure...ion cells to transform andmigrate. Recently, these defects have been associated with damage to a region ofchromosome 1 that includes the gene for the Type III ...Genetic Research Boosts Understanding Of Iron's Path Through Body, Diseases Of Iron Metabolism
...of mice dating back to the 1920s and '30s that had defects socarefully described by hematologists that she could tell they likely hadmutations in iron transport genes. This work led her group to identify theintestinal iron transporter. At the same time, it raised doubts about the current dogma regar...Folic Acid Lowers Risk Of Cardiovascular Disease
...atically protects against the development of birth defects like spina bifidain humans. More recent evidence has suggested a correlation between high levelsof homocysteine in blood and an increased risk of cardiovascular disease orspina bifida. In the mid-1990s, scientists discovered that increased folic ac...Yeast Provides Evidence For Continuous Membrane Theory
...and polycystic kidney disease, which are caused by defects in Golgifunction. The researchers studied a particular region of the cell where anorganelle called the endoplasmic reticulum (ER) seems to give rise to anotherorganelle called the Golgi apparatus. This process occurs at specific placesalong ...UCSF Lab Makes Observation That Could Explain Ability Of Modified Cold Virus To Kill Cancer Cells
...e earlier finding that, while some tumorcells with defects in p53 function have mutations in the gene itself, othershave a defect in p14ARF, and that this defect indirectly disables p53 function. "We have some very nice images that show that when normal cells are infectedwith ONYX-015, p53 is induced, and t......trides in diagnosing andtreating the many profound defects that affect the pediatric heart. But when theheart muscle itself is damaged, right now there is nothing we can do." Principal investigator Harold S. Bernstein, MD, PhD is assistant professor ofpediatrics, investigator of the Cardiovascular Research...Researchers Track Path Of Safer Gene Delivery Method
...n growing tissue-engineered bone for repairingbone defects by delivering growth factors that increase the proliferation ofcells. Mikos and Godbey point out that it is a versatile method. With thePEI/DNA complex, they are not limited by the gene or genes that they want todeliver. PEI/DNA can be inject...Symposium Probes Impact Of Toxins On Development
...n environmental toxins and disease,including birth defects and cancer. "Horizons in Developmental Toxicology ...g of research talks about chemically-induced birth defects inchildren. The symposium is organized by the new UW-Madison Environmental Health SciencesCenter an...Genetic testing and modified diets may save babies born with genetic defect
...iver, heart or muscular abnormalities suggestiveof defects in the body's use of fatty acids -- which ordinarily are used tosupply energy and for other essential functions. Eight of the infants died --seven almost immediately and the other died 18 months later, despite treatment. "The remaining 16 pat...SFVAMC-UCSF scientists solve a key protein structure
... facilitate thedevelopment of therapies to correct defects within this essential energyproduction system. Tea...should increase our understanding of how molecular defects in thechain may produce damaging oxygen free radicals, which are thought to play arole in disease an...New mechanism for regulating gene expression discovered
...to scientists' understandingof developmental birth defects and a variety of other medical conditions. Now, Northwestern researchers have gained new insight into how genes areexpressed. In the June 23 issue of the journal Nature, cell and molecular biologistElizabeth Goodwin and colleagues a...Gene protects tubby mouse strain from hearing loss
... shared molecular pathways underlying the multiple defects in tubby,including maturity-onset obesity, insulin...TULP2, and TULP3. Thesemutated genes cause sensory defects in mice similar to retinitis pigmentosa andcone-rod dystrophy in humans. Tubby mice develop ...Gene located for rare fat disorder
...," Garg said. "If we can find out why thesegenetic defects cause loss of fat and complications associated with insulinresistance, we hope to be able to learn more about common types of obesity, suchas truncal obesity and how it leads to insulinresistance, diabetes and lipid problems." The UT Southwestern res......dtissues that might be manipulated to heal genetic defects in organs and tissuesthroughout the body. The scientists caution, however, that the restorative effects were well belowwhat would be required if the technique were to be used for clinical treatment.But they believe there are ways to improve the meth...