Study finds link between common neurological disorder and Alzheimer's disease
... linked to the disease are among the most commonly mutated genes in the entire human genome. The primary neurofibromatosis-related gene, called NF1, or neurofibromin, was identified in the early 1990s by Francis S. Collins, M.D., Ph.D., now director of the National Human Genome Research Institute. Another le...Researchers aim to control treatment-resistant head lice
...to come up with a way to actually grow colonies of mutated lice in their laboratory for closer study. Kyong Yoon, a Ph.D. student at the University of Massachusetts at Amherst, described the work to scientists attending the 224th national meeting of the American Chemical Society, the world's largest scientif...Ras gene causes cancer via different pathways in humans vs. mice
... dishes, genetically modified the cells to express mutated forms of Ras, then traced how the protein produced by the Ras gene promoted cells to transform. As expected, Ras exerted its malignant effects in mice cells primarily through a protein called Raf, whose specific job is to modify a chain of addition......a mutated, constitutively active Ras protein. This mutated form of Ras can contribute to the transformation of normal cells into malignant cells by conferring upon them the ability for deregulated growth, proliferation and cancer cell invasion. Ras is constitutively active in 30% of human tumors, including ...Cause of hepatitis A virulence pinpointed
...kedly more severe. Conversely, chimeras containing mutated forms of 2C and VP1/2A did not cause disease. We...ted monkeys with just such an attenuated virus, it mutated within those animals, although it did not cause disease. Feces from the animals, however, contained......y, as natural selection will favour animals with a mutated zona pellucida protein that evades the immune response. But Peacock points out that sperm can only fertilise eggs if the proteins on their head bind to the ZP proteins. So for resistance to appear, both egg and sperm proteins would have to mutate sim...New predictive marker found for prostate and colon cancer
...ther protein called htt, which is expressed by the mutated gene responsible for Huntington's disease an inherited, progressive form of dementia. Although both proteins are found in parts of the cell where movement of material occurs, their exact role is unknown. The connection to the Huntington's gene could...Noggin mutation causes rare congenital hearing loss
...ccurring early in embryonic development. Since the mutated gene is dominant over the normal version, a child has a 50:50 chance of being born with the syndrome, if one parent carries the mutation. Comparing DNA from nine members of one family and three members of another family with closely related symptoms,...Researchers develop mouse model of Rett syndrome
...gh cells are "normal," they can compensate for the mutated gene. After 14 years of searching, a scientist i... Zoghbi's lab found that a gene called MECP2 was mutated in the Rett Syndrome patients they studied. Earlier research suggested that the MeCP2 protein was re...New cholesterol disorder discovered As predicted from gene's role
...he team predicted the clinical effects of having a mutated CYP7A1 gene and then identified several hundred pe...n as differential DNA melting, which pinpoints the mutated genes based on their abnormal mobility when the DNA is placed in an electrical field....Researchers identify protein that regulates killer cells
...by the body's immune system that attack foreign or mutated cells like caused by viruses or cancer. "This research gives us a better understanding of how the immune system works. As a result, we have a better understanding of how viruses and cancer try to get around this process. One day, we will hopefully be...Researchers identify gene for most common paediatric malignant brain tumour
...to (U of T) have identified a novel gene that when mutated results in medulloblastoma, the most common malign...n HSC's Clinician-Scientist Training Program. The mutated gene has lost the ability to suppress two signaling pathways (Hedgehog and Wnt) that are important i...Research into rare disease leads to discovery of six new breast cancer-susceptibility genes
...opy of a flawed BRCA2 gene and had transferred the mutated gene to their child. The finding proved that the chain of events or pathway that begins with the Fanconi anemia genes leads directly to BRCA1 and 2, which work together to repair damaged DNA. If BRCA1 or 2, or any of the Fanconi genes are defectiv...Natural resistance of pigment cells to sunlight may make deadly skin cancer tough to treat
...rsmeyer, MD. When either the MITF or BCL2 gene is mutated or missing, the whiskers and fur of mice turn from black to gray or white because melanocytes have died. A mutant MITF gene is involved in a human genetic disorder that causes, among other abnormalities, locks of white hair from birth. The investigat...New gene therapy tool successfully treats mice with hemophilia A
...ns-splicing. The experimental procedure repairs a mutated section of the gene responsible for hemophilia A, ...nventional DNA gene therapy. "Among these, only a mutated segment of the gene is repaired rather than the entire gene. Also, very large pieces of DNA cannot ...RING Finger proteins target cellular molecules for disposal
... is a variety of E3 ubiquitin ligase. Cells with a mutated or non-functioning SCF will divide when they're not supposed to if particular proteins are not destroyed properly during the cell cycle phase in which the decision to proliferate is made. Essentially, these cells now contain "a chronic 'go' signal,"...Worms point the way on nerve disease
...orsin A found in human nerve cells and known to be mutated in people with early-onset dystonia. With a new grant of $43,325 from the Dystonia Medical Research Foundation, Rose's lab will now study how OOC-5 interacts with other proteins in the worm. They hope that this will show how Torsin genes work in hum...UCSF finding offers provocative insight into what drives cancer
... proteins that make cells proliferate and that get mutated in cancer, such as the cyclin dependent kinases an...ancer is so relatively rare: c-Myc is likely to be mutated in one or other of the hundred thousand billion cells in our bodies hundreds of times each day. If s...UT Southwestern researchers identify gene responsible for a rare body-fat disorder
...rom all over the world for the past 16 years. The mutated form of the AGPAT2 gene was identified in the 11 families that participated in the study. Characterized by partial or complete lack of body fat at birth, individuals affected by this disorder develop severe diabetes as teen-agers. Other complications...Study suggests mechanism for heart defect that kills young athletes
... cardiomyopathy, typically have one normal and one mutated copy of the gene. If a human embryo lacked two copies of TNNT2, it would never survive, says Sehnert. Still, the researchers are hopeful that the new finding can contribute to future gene therapy strategies that might allow only the normally function...