Poor prognosis linked to BRCA1 mutations
...k. However, the poor prognosis associated with the mutated gene is mitigated by chemotherapy. The breast cancer susceptibility genes, BRCA1 and BRCA2, were identified over eight years ago, but the best way of treating women who develop hereditary breast cancer associated with mutations in these genes is stil...Common genetic damages in non-dividing cells lead to the creation of mutant proteins
... The Emory scientists present direct evidence that mutated proteins can be manufactured through this transcription pathway. They analyzed cells that were completely normal with respect to their DNA repair mechanisms as well as cells with various components of their DNA repair machinery eliminated. For some...Research collaboration identifies gene essential to puberty
...nally found that the gene that codes for GPR54 was mutated in all those with IHH and in none of the unaffected family members. Blood samples from unrelated normal individuals showed no mutations in the same gene, but analysis from other IHH patients revealed another individual an African American male who...JCI table of contents, 15 October, 2003
...dence that may help explain how two genes that are mutated in patients with tuberous sclerosis complex (TSC), a genetic disorder that produces widespread benign tumors in the brain, skin, lungs, and kidneys, contribute to regulating cell growth and organ size. TSC is caused by mutations in either of two clas...Nerve disorder in mice and men linked to mutated gene
...them," Burmeiser says. "Unless we can identify the mutated gene, it's hard to develop a diagnostic test or a therapy to help people with the disease." A paper describing the research study will be published online October 12 by Nature Genetics, and will appear in the November issue of the journal. It is the ...Genes that regulate hearing link humans and fruit flies in new way
...er hearing disorders. The scientists found that a mutated fruit fly gene controlling hearing and the mutated human counterpart gene both produced similar consequences: hearing loss as well as limb deformities ...UCSD researchers discover gene able to suppress retrovirus insertion mutations
...d that the novel form of Nxf1 restored function to mutated genes by increasing the amount of normal product made by the mutated gene, and alleviated abnormalities in two very different mouse mutations. "The properties of this ge...New findings in yeast may reveal why growing older is the greatest carcinogen in humans
...y, or LOH, a condition characterized by missing or mutated chromosomes. This finding suggests that the yeast Saccharomyces cerevisiae, a simple, single-celled organism, may be an ideal model for understanding the complexities of age-related cancer development in humans. "Yeast gives us, for the first time, t...Identifying cancer genes Will it really lead to better treatment?
...tation occurs. A small number of drugs targeted at mutated cancer genes have already been shown to act effectively. "Undoubtedly, these advances have changed the way we think about cancer drug development. BRAF is a promising target and we have initiated a program of drug development targeted at this gene....OHSU scientists uncover key protein for Fanconi anemia, cancer susceptibility
...y syndrome. When both parents carry a defective or mutated FA gene, children are at increased risk of developing the disorder, which can lead to birth defects, bone marrow failure and increased incidence of cancer, including leukemias and solid tumors. In addition, there is a growing appreciation among scien...Geneticists show ripple effects of gene mutations
...we could see how many genes were perturbed when we mutated one gene, but we could also look at the overlap of the ripples." In addition, the researchers were able to identify the numbers of male- or female-specific genes that were affected. Finally, in what Anholt called the "tour de force" of the study, the...Purdue research plots new field in plant genomics
...ing the plant's ionome. Using the results from the mutated plants, the next phase of the research is to identify which genes in a plant cell play a role in ion regulation. The research team will do this by comparing the elemental profile of the mutant plants to the elemental profile of normal, or "wild-type,...Northwestern's Cancer Genetics Program pinpoints gene that increases cancer risk by 26 percent
...unseling for TGFBR1*6A," he says. "By spotting a mutated gene in an individual, we can sometimes detect cancer years earlier through increased cancer screening. Through genetic counseling and genetic testing, we aim to reduce the incidence of cancer among individuals with increased risk," explains Taya Yo...Leishmania mutant provides insight into disease and may lead to a vaccine
...d Spth, Ph.D, avoided this problem by developing a mutated parasite incapable of causing disease. This enable... "But we and others have confirmed it." Since the mutated parasites did not survive in macrophages, the investigators have no idea what type of cell did allow...Stanford researcher finds method to define genetic 'words'
...ers may want to know the function of a gene that's mutated in people with a genetic disease. Kim's database could pinpoint a role for the disease gene, guiding future research in that disorder. Kim added that his data also could be used to identify genes that have changed function over time. He said some gen...Tipping the balance of prion infectivity
...rrier -- such that for example, the chimeric prion mutated to favor the Sc-infecting form no longer infected the Ca yeast strain. Importantly, the researchers found this effect both in test tube mixtures of the prions and in the yeast cell cultures themselves. The findings emphasize the importance of lookin...Disease-causing genetic mutations in sperm increase with men's age
..., also a professor of pediatrics. "Because the few mutated sperm are more likely to be used to make a baby th...d fibroblast growth-factor receptor-2 (FGFR2). The mutated versions of FGFR-2 don't bind to its usual targets with the same affinity, perhaps contributing to t...Modifier gene controls severity of neurological disease in mice
...tiate and cut off the electrical signal. Mice with mutated forms of Scn8a have a range of neurological defects and movement disorders, depending on their specific mutation. "We used B6 mice with a splice site mutation in Scn8a that affects the amount of protein produced by the gene," says Buchner, who is fir...Stem cell defects are key to Hirschsprung's disease
...the intestinal nervous system." "We found that the mutated genes causing Hirschsprung's disease act in neural crest stem cells to impair their ability to form a normal intestinal nervous system," Morrison adds. Neural crest stem cells are one variety of tissue or "adult" stem cells. Unlike embryonic stem ce......entified genes the most well known being the gene mutated in cystic fibrosis. However, an important discovery emanating from their multi-species comparative sequence analyses was the presence of substantial numbers of previously unidentified DNA segments that are conserved across a wide range of species, bu...