Leading reason for corneal transplants comes into focus
...e the chromosome locus for the most common genetic mutation resulting in Fuchs," he said. "It's a painstaking process of elimination, but now we are closing in on the gene that causes what we believe is the most widespread form of Fuchs, not just the rare types in individual families. Our methods have clearl...Resistance and genetic sensitivity to sleeping sickness
... of study consists in comparing the frequency of a mutation in subjects with symptoms and in healthy individuals. When the frequency of a mutation is significantly higher in the sick subjects than in the healthy ones, this mutation is associated w...Newly discovered behavior in cancer cells signals dangerous metastasis
...n their behavior and don't necessarily need a gene mutation to alter their behavior," said Sebastian Oltean, M.D., Ph.D., research associate and first author of the journal article. "Alterations in gene splicing can be much more subtle in nature but still have a major impact on the cancer cell and can be ta...Experimental cancer drugs counter muscle deterioration seen in muscular dystrophy
...f skeletal muscles. All are inherited, caused by a mutation in one of a group of genes responsible for maintaining muscle integrity. Puri's team studied the disease's most common form, Duchenne muscular dystrophy, which affects one in 3,500 male births, according to the National Institute of Neurological Dise...Cellular traffic backups implicated in skeletal malformations
... Center researchers report the identification of a mutation that causes severe skeletal deformities in zebrafi...rtened body. The pathway affected by the crusher mutation is key to transporting proteins outside of the cell. All proteins are made in the endoplasmic reticu...Embryonic selection of sex avoids conceiving blind children
...selection, it would be essential to know the exact mutation in the chromosome, something which has not been achieved in this particular case. This embryonic selection enables the prevention of the transmission of this disease to future generations and may be a way to reduce the number of victims of Retinos...A wolf in sheep's clothing: Plague bacteria reveal one of their virulence tricks
...an 80 percent survival rate, showing that Prehna's mutation drastically lowered Yersinia's harmful effects. "Altering this binding site not only impairs the bacteria's ability to disrupt the host cytoskeleton," Stebbins says, "but it decreases its virulence significantly." "It's rare to find something that h...Fruit fly aggression studies have relevance to humans, animals
...g 19 families of flies, each of which had a single mutation in one of the genes identified in the microarray experiment. Fifteen of those 19 mutant families did, in fact, display abnormal aggression compared to non-mutants, confirming the role of those specific genes in aggressive behavior. Those genes were ...Researchers discover new gene responsible for brittle bone disease
A team of researchers has identified a new genetic mutation responsible for osteogenesis imperfecta (OI), a co...e disease. That left open the possibility that the mutation causing OI was spontaneous, that something went wrong for the first time in the gene of the person d...Zinc plays important role in brain circuitry
...ew key player: zinc. By engineering a mouse with a mutation affecting a neuronal zinc target, researchers have...ising the neurons' ability to respond to zinc. The mutation in the receptor, called the glycine receptor, targets the same receptor known to be mutated in human...Buildup of damaged DNA in cells drives aging
...none. Further analysis of the boy’s DNA revealed a mutation in a gene known as XPF, which codes for part of a ...ly surprised by the finding that the patient had a mutation in XPF, because mutations in this gene typically cause xeroderma pigmentosum, which is a disease cha...Circadian gene helps the brain predict mealtime
...s have found the first evidence that a single gene mutation can render mice totally unable to predict the time...iological levels is specifically associated with a mutation in the Period 2 gene, a gene that previous work had shown to play an important role in the brain's a...Jefferson scientists find aging gene also protects against prostate cancer development
...king a prostate cancer with cells overexpressing a mutation for the androgen receptor, which is resistant to c...o Dr. Pestell, prostate cancer cells can express a mutation that makes patients resistant to current forms of treatment such as hormonal therapy. Such therapy f...St. Jude finds clues to hearing loss from chemotherapy
... to cause hearing loss, and it was not known which mutation each mouse had. Therefore, the St. Jude team scree... center of the brain. Understanding how a specific mutation disrupts that cascade might lead to ways to repair the damage, Zuo said. For example, one type of d...Crohn's disease gene identified
... as well as about the genetics of the disease. One mutation appears to offer significant protection from IBD, and will be a crucial target for drugs that might better manage Crohn's disease and ulcerative colitis." Previous genetic studies found a link between Crohn's disease and mutations in a gene known ...UCSD study reveals how plants respond to elevated carbon dioxide
... discovery of the first known plant with a genetic mutation that makes it strongly insensitive to increased levels of carbon dioxide, which will provide additional information about the mechanism of plants' response to carbon dioxide levels. However, the researchers caution that a number of factors in additio...Scientists solve 30-year-old mystery of mutant mouse's kidney woes
...s have located the source of a 30-year-old mystery mutation that causes similar problems in a mouse line. Sc...have known of the mouse line's naturally occurring mutation since the early 1970s. Researchers at Washington University School of Medicine in St. Louis are the ...Jefferson scientists identify gene mutation potentially involved in breast cancer initiation
... in New York have found evidence suggesting that a mutation in a gene that normally helps block the formation ...fferson's Kimmel Cancer Center, found that a known mutation in the Caveolin-1 gene is present in approximately 19 percent of all breast cancers that are fed by ...Inheriting a tendency to brain infection
...ound in our patient." Beutler's mouse carried a mutation in a gene called unc93b. The French team sequenced...rited two mutated copies of the gene--although the mutation in her case was different. She had survived two episodes of the disease, which had left her partiall...Tamed 11,400 years ago, figs were likely first domesticated crop
...he parthenocarpic trees. "Once the parthenocarpic mutation occurred, humans must have recognized that the resulting fruits do not produce new trees, and fig tree cultivation became a common practice," Bar-Yosef says. "In this intentional act of planting a specific variant of fig tree, we can see the beginnin...