Sick Kids researchers identify gene for Shwachman-Diamond syndrome
...disease, meaning that a child needs to inherit two mutated genes (one from each parent) in order to have the disease. The SDS gene resides in a region of the human genome that was very difficult to map because it contains a lot of highly repetitious DNA sequence. It was found that in the normal state, every ...Newly-discovered role for Nf1 gene explains heart abnormalities associated with neurofibromatosis
...the puzzle by showing how the Nf1 gene which is mutated in those suffering from Neurofibromatosis is also essential in endothelial cells, the cells that make up blood vessels. Type 1 Neurofibromatosis affects many children, occurring in one in every 4,000 births. The researchers believe their findings m...Scientists identify gene that controls sex drive in male flies
...observed that adult male flies in which takeout is mutated maintained the ability to perform these behaviors, but did so less often apparently suffering from a decreased motivation to mate. "The new work shows that in well-fed flies the takeout gene is active almost exclusively in males and motivates them t...Scientists discover role for Cdk4 in making cells cancer resistant
...ve identified a few usual suspects: genes that are mutated in a large number of human cancers. For example, t...f p53 status or the presence of another frequently mutated tumor suppressor gene, Ink4a/Arf. The Cdk4 protein promotes progression through the G1 (initial) ph...Detecting bacteria in space: The good, the bad and the unknown
...craft. "We are not specifically looking for deadly mutated bacteria," Fox said. "We are more concerned about preventing everyday infections because, if you get sick in space, you don't have a hospital around the corner for treatment. Our goal is to avoid infections with routine monitoring to keep bacteria ...Study helps explain gene silencing in the developing embryo
... wrong with the Polycomb group, if these genes are mutated and cannot silence Hox, then development becomes abnormal." Writing in the Nov 1 issue of Science, Zhang and co-authors from UNC; Southern Methodist University, Dallas, Texas; and Memorial Sloan Kettering Cancer Center, New York, NY, report the purif...Stanford researchers develop gene therapy technique that sharply cuts risks
...ntegration sites that her team knows are safe. "We mutated the enzyme and evolved it so it will prefer one place over another," she said. Calos said this approach should be effective for treating diseases in several different human organs including skin, retina, blood, muscle and lung. She hopes to s...Researchers: Protein family key to helping plants adapt
... team uncovered the proteins' function by studying mutated Arabidopsis thaliana, a common research plant, to determine its response to the stress of growing in salty soil. The same mutations, called cpl1 and cpl3, also seem to alter response to cold and drought, and alter growth and flowering time. "It's bec...Transposable elements in malaria mosquito genome may offer a tool for control of disease spread
...ed that sometimes, when wildtype corn mutated, the mutated stock would later appear to revert at high frequency. "She had discovered that the mutation and reversion was caused by segments of the DNA moving in and out of a genetic locus in the genome," says Tu. "Until then, we thought of the genome as static....Scientists discover genetic defect responsible for microcephaly
... necessary for a baby to inherit two copies of the mutated gene to have the disorder. In affected families, each parent contributes one changed copy of the gene to the child who has the disorder. The parents are called MCPHA carriers because they have one normal copy of the gene and one changed copy of the g...Findings aid understanding of neurodegenerative diseases
...ulation. In Huntington's disease, for example, a mutated gene directs production of a protein with an increasing number of consecutive residues of the amino acid glutamine. When the number of residues expands past 40, the protein exhibits unusual biochemical properties, causing the protein to misfold. This...SMU and UNC researchers make an advance in our understanding of gene regulation
... particularly some leukemias. This may happen when mutated versions of the genes fail to work properly, causing an overproliferation of blood cells or failing to make cells differentiate properly. About 15 Polycomb-group genes have been discovered so far. The E(z) gene was discovered by Swedish researchers ...Big-bottomed sheep have a rare genetic mutation that builds muscle, not fat
...AM, N.C. -- Scientists have discovered an elusive, mutated gene named for the Greek goddess, Aphrodite Kallip...-bottomed sheep inherited a functional copy of the mutated gene from their father alone -- the mother's copy is turned off. Silencing of one parental copy is c...Stanford researchers devise novel gene therapy technique
...he first time researchers have stably replaced the mutated gene in this disease and introduces a new gene therapy technique that could be useful in a wide range of diseases. "We're very hopeful," said study leader Paul Khavari, PhD, associate professor of dermatology at Stanford. "This study was perfo...Breast cancer gene repairs damaged DNA
...n many organisms, and on the fact that it is often mutated in tumors -- that it carries out an important function in homologous-recombination-mediated repair," said Pavletich. Producing this large protein fragment of BRCA2 and crystallizing it for x-ray crystallographic studies was a formidable challenge. L...Sex-pheromone link to insect evolution
..., others on channel three. But when a female has a mutated delta-14 gene -- and by mutated I mean the gene is turned on -- it changes her channel from three to five. That means that out of 20...UT Southwestern researchers develop vaccine against deadly bioterrorism toxin ricin
...cine, UT Southwestern researchers, led by Vitetta, mutated the DNA encoding the active A chain of the toxin. They took out the site that inhibits protein synthesis, as well as the site responsible for inducing vascular leak. The latter was identified by Vitetta's group several years ago in its ongoing effort...Of mice and men: Deaf mouse leads scientists to new human hearing loss gene
...o insert a normal Tmie gene into mice that carry a mutated version of the gene, in an attempt to correct the problem. Kohrman's colleague Yehoash Raphael, Ph.D., M.Sc., who directs Kresge's Otopathology Laboratory, will continue to aid the reseach using an electron microscope to see the alterations that Tmie...CWRU scientists reveal how magnesium works on ion channels important for regulating blood pressure
...teins made of various amino acids; the researchers mutated some of these amino acids and recorded functional change that resulted from the mutations. Hypertension, Cui explained, results from the contraction of blood vessels, which causes an increase in blood pressure. "The diameter of blood vessels is contr......apy involves treating genetic disorders by using a mutated retrovirus to insert a new gene into a defective genome. Gene therapy could be made safer and more effective by knowing more about and taking advantage of a retrovirus's targeting specificity, he said. Retroviruses like HIV reproduce themselves by in...