Story ideas from the Journal of Biological Chemistry
... is not necessarily inherited have been linked to mutation in a gene that makes a protein called superoxide dismutase 1 (SOD1). But how the defective variants of the SOD1 protein might interact with other cellular components to cause the disease has remained unclear. Haining Zhu and colleagues looked at t...UVa researcher studying disease that cripples newborns
...ian research group, he helped discover the genetic mutation that causes DM1. The mutation occurs when a gene called myotonic dystrophy protein kinase (DMPK) makes extra copies of nucleotide ...Repair of DNA by Brca2 gene prevents medulloblastoma
...isease called Fanconi anemia, which is caused by a mutation in the human version Brca2. Children with Fanconi anemia are at increased risk for tumors and small brain size, among other problems. In the current study, the St. Jude team showed that mice lacking Brca2 had neurologic defects similar to those of hu...Executable biology -- Computer science sheds light on animal development
...By running their model with a wide variety of gene mutation scenarios and comparing results with available laboratory data, they found that the fate of C. elegans vulval precursor cells depends upon the time-sequence of two cellular signaling pathways, as well as a negative feedback loop that had not been des...Effect on breast tumors of DNA alternations in 3 genes described
...eristics of breast tumors. "It is well known that mutation in genes -- alterations in their sequence -- is one of the characteristics of tumors responsible for some of their disease properties," said Menghua Tao, Ph.D., research assistant professor of social and preventive medicine in the UB School of Public...University of Pittsburgh discovers genetic 'shut down' trigger in healthy immune cells
...rary of Science. "This kind of loss-of-function mutation can be very dangerous, and it is the first such mutation that has been identified in normal immune cells in blood," said Bora E. Baysal, M.D., Ph.D., assista...Gene mutation linked to cognition is found only in humans
... 5 million years ago. Gene sequencing revealed a mutation specific to humans that triggers a change in the s...icing site and a longer protein. Introducing this mutation into chimpanzee DNA resulted in the creation of type II neuropsin. "Hence, the human-specific mutati...Cancer cells 'reprogram' energy needs to grow and spread, study suggests
...tudy shows for the first time how a cancer-causing mutation can block their production. "There must be a st...pel-Lindau (VHL) syndrome, caused by a single gene mutation and characterized by the tendency to develop tumors in many parts of the body, including the kidney,...Gene mutation linked to increased athletic performance in whippets
...tes of Health (NIH), have now discovered a genetic mutation that helps to explain why some whippets run even f...Is Division of Intramural Research, reports that a mutation in a gene that codes for a muscle protein known as myostatin can increase muscle mass and enhance ra...Researchers learn more about genetic mutation linked to autism
...Iowa researchers have learned more about a genetic mutation that contributes to autism. The mutation occurred in sperm cells of a father, who does not have autism, but passed the condition on to two of...'Supermap' of avian flu yields new info on source/spread
... we could test through statistical analysis of the mutation data we organized in the evolutionary tree," says ...think it is important to track how this particular mutation is spreading because it appears to be so infective and deadly in mice," says Janies. For now, it ...Researchers create interactive map with Google technology to track avian flu spread
...ls, we think it is important to track how this PB2 mutation is spreading because it appears to be so infective and deadly in mice," said Janies. The team also used the supermap to visualize the spread of H5N1 in various parts of the world by specific orders of birds and mammals, including waterfowl, domest...Chinese medicinal compound stops formation of cysts in polycystic kidney disease in lab
...no more growth is needed. In people who have a mutation in one of these growth regulatory proteins, however, the message to stop growing never gets delivered, even when urine is flowing and the cilia are bending. It is as if the phone is ringing but the cell can't hear it. So, never sensing a signal to ...Minuscule molecules pack a powerful punch
...bryonic stem cells which they used to transfer the mutation into mice. Previous research showed that miR-155 was active in cells of the immune system and overactivity was found in lymphoma development. "Very little is known about the function of the hundreds of microRNA genes," said Dr Antony Rodriguez, lea...Short chromosomes put cancer cells in forced rest
...ce with nonoperating telomerase to mice carrying a mutation that predisposed them to Burkitts lymphoma, a rare but aggressive cancer of white blood cells. Telomerase helps maintain the caps or ends of chromosomes called telomeres, which shrink each time a cell divides and eventually - when the chromosomes get...Gene analysis might explain ethnic differences in sensitivity to chemotherapy in lung cancer
...hat involves shortening of the gene, a spontaneous mutation that increases EGFR levels, and increased copies of the gene caused by the tumors, he said. "Theyre all occurring together on a single chromosome, which results in a greatly increased amount of EGFR," he said. "The predicted end result would be a g...First demonstration of muscle restoration in an animal model of Duchenne muscular dystrophy
...ll types within the MD mouse model, overriding the mutation in the dystrophin gene that tells it to halt production of the protein. Instead of stopping, the full-length dystrophin protein is made. The drug enables enough protein to be made to correct defects in the muscle of the DMD mouse, and at the same tim...Brain networks strengthened by closing ion channels
...posure. "We find it remarkable to relate a genetic mutation in patients to the regulation by an ion channel of PFC neuronal networks," said Arnsten....Why some aphids can't stand the heat
...ding to new research. An overheated aphid with a mutation in that gene can't reproduce. The gene isn't eve...l cells inside the aphid. "It's the first time a mutation in a symbiont has been shown to have a huge impact on host ecology," said Nancy A. Moran, Regents' P......roximately 50% of NS cases are caused by a genetic mutation in a biochemical switch called SHP-2. SHP-2 is inv...nd mouse embryos, they found that the same kind of mutation in SHP-2 that can be found in NS patients disrupts the neuron-glial balance by further promoting the...