Gene mutation found for a form of juvenile-onset motor neuron disease
...of neurology and pediatrics, said that finding the mutated gene opens up avenues of investigation for motor neuron diseases in general. Learning more about the biological repercussions of the mutation may lead to insights on how motor neurons are damaged in other forms of ALS. "After scientists figure out wh...Hemochromatosis, inflammation and anemia
...ol, now links the gene HFE to ACD. The HFE gene is mutated in patients suffering from the common iron overloa...us consequences for the organism. HFE is the gene mutated in the common genetic disease hemochromatosis, a condition in which the body becomes overloaded with...Sticklebacks reveal secrets to evolutionary change in Stanford study
...e animal rather than altering its shape. Mice with mutated Pitx1, for example, die soon after birth. In the sticklebacks, however, the group found alterations in the location of the Pitx1 gene activity. Although the Pitx1 protein doesn't show up in the developing pelvic region of the fish lacking hind fins, ...Purdue scientists finding ways to outsmart crop-damaging bugs
...s-resistance, meaning the chemicals react with the mutated molecule. "Insects have a tremendous capacity to a...ult, if not impossible, to find compounds toxic to mutated insects, Pittendrigh said. However, this study shows it may not be as difficult to identify negative...Laboratory rat gene sequencing completed
...their last common ancestor, the rodent lineage has mutated more than the human lineage, Brent pointed out, wh... The results of the analysis show that the rat has mutated slightly more frequently than the mouse from the last common ancestor."It's not clear how to explain...Scientists develop new cloning technique that dramatically shortens the search for genes
...ion, then search through the plant's DNA until the mutated gene of interest is identified. For example, if re...us hunt for genes. I started from the premise that mutated genes produce mutated proteins and may even prevent the production of the protein entirely." In hea...Bioreactor boosts chemical fermentation by 50 percent: study
...from the bioreactor, they found that the cells had mutated and changed several key enzyme activities. Production of enzymes for propionic acid formation had increased, and the enzyme for succinate production had decreased. Aside from giving Swiss cheese its characteristic smell and flavor, propionic a...Awards honor Alt's three decades of genetic cancer research
...singly malignant. (The p53 protein is known to be mutated in almost half of human cancers, including breast,... that a tumor suppressor gene has to be completely mutated or gone to contribute to cancer," he says. "We need to think in a new way about tumor suppressive ge...Diet a major factor in breast cancer time for government action
...diet and hormonal risk factors in women carrying a mutated BRCA1 and BRCA 2 gene, the most common mutation found in breast cancer. These women have a very high lifetime risk of developing breast cancer, and most of them develop the disease in their 30s or 40s. However, he said, it is not clear why some m...UT Southwestern researchers cite recent advances in underlying causes of rare body-fat disorders
...pe of familial partial lipodystrophy. In 2002 the mutated gene, AGPAT2, linked to congenital generalized lipodystrophy, was identified. In 2002 researchers, in collaboration with researchers with the National Institutes of Health, reported that replacing the protein leptin drastically reduced triglyceride ...UT Southwestern researchers discover link that could aid in treatment of kidney cyst diseases
...on of the PKHD1 gene was markedly decreased in the mutated mice. Mutations of PKHD1 cause autosomal recessive...ith the transcription of PKHD1, a gene known to be mutated in autosomal recessive polycystic kidney disease," said Dr. Thomas Hiesberger, assistant professor o...Gene required for formation of blood cells
...A gene called Mixed-Lineage Leukemia (MLL) gene is mutated in some forms of human leukemia and is thought to play a role in blood cell development. MLL regulates a special set of genes known as HOX genes that are important for embryonic development of the body. Dr. Stanley Korsmeyer and colleagues from Dana-...Johns Hopkins gene hunters pinpoint new cancer gene target
...ecade, until now, no study revealed that they were mutated in cancer. Kinases have been the focus of recent drug development strategies, with some kinase-inhibiting compounds, such as Gleevec and Herceptin, already being used clinically to inhibit tumor growth. "These findings open the door to developing s...Researchers find a protein that controls cell growth
...roup demonstrated that cells with high levels of a mutated form of Skp2 promoted the degradation of p27. As a result, these cells entered the S phase of the cell cycle faster than control cells with unmutated Skp2. The premature entry of a cell into the S phase is a potential cause of genetic instabili......ic wisdom is that inherited disease results when a mutated protein communicates a defective message in the ce...ation of a defective protein. In general, when the mutated RNA falls victim to the decay mechanism, the disease is usually milder than when it escapes it all t...New genomics tool boosts diabetes research
...cessfully map the location of key gene regulators, mutated forms of which are known to cause type 2 diabetes.... develop medications that modify the activities of mutated forms of HNF4, which could possibly prevent diabetes in some at-risk individuals. Also, these findin...Schering-Plough scientists identify protein essential for cholesterol absorption from intestine
...erives from its similarity to another gene that is mutated in individuals with the rare disorder Niemann-Pick disease. NPC1L1 has no role in Niemann-Pick disease. Linking NPC1L1 to cholesterol absorption Schering-Plough molecular biologists led by Scott Altmann, Ph.D., associate principal scientist, Cardi...Other highlights in the February 18 issue of JNCI
...sion was not affected, and the PML gene was rarely mutated and was not subject to loss of heterozygosity. The authors present evidence that a proteasome-dependent mechanism may lead to PML destabilization in some cancer cells. Study Characterizes Gene Silencing in Precursor to Cervical Cancer Infection wi...JCI table of contents, 16 February 2004
...n methylation The proteins Rho and Ras are often mutated in human tumors. One characteristic that they share is that they end at their carboxyl-terminal with the CAAX motif. The amino acids constituting the AAX segment are cleaved and the remaining isoprenylcysteine is methylated by the enzyme Icmt. These ......eighboring squares were previously unoccupied, the mutated person had a high probability of reproducing and passing along the mutation. The mutation itself remained most common in the migratory wave front, a situation Cavalli-Sforza refers to as "surfing" the migratory wave. Over the course of 64,000 simulat...