Tag: "mutation" at biology news
JCI table of contents: June 21, 2007
...leagues from Institute Cochin in Paris show that a mutation
in AT1 that makes the receptor more sensitive to angiotensin II and the effects of its ligand longer lasting, causes a modest increase in blood pressure, as well as cardiac, vascular, and renal fibrosis, and cardiac dysfunction in mice. This new anim...
Autism-related proteins control nerve excitability, researchers find
...ctrum disorders, the researchers also engineered a mutation
in neuroligin-1 comparable to one observed in huma...twofold decrease in excitability, showing that the mutation
interferes with the stability of the synapses, Dr. Kavalali said....
Fat fish put obesity on the hook
... zebrafish by introducing the same type of genetic mutation
that causes severe obesity in humans. The genetic change blocks the activity of a receptor, the melanocortin-4 receptor, which is at the heart of a device in our brains called the adipostat. The adipostat regulates body weight homeostatically, like ...
Muscle weakness: New mutation identified
... The Journal of Physiology, has identified a novel mutation
associated with muscle weakness and distal limb de...d by persons with a regulatory protein tropomyosin mutation
is directly related to a mechanism by which the mutant tropomyosin modulates contractile speed and f...
Screening approach leads to discovery of gene linked to breast cancer
...eloping breast cancer at an early age. Rather, the mutation
arises during a woman's life, causing an overprodu... in turn, spurs cell growth and proliferation. The mutation
is found in 30-40 percent of all breast cancers, making it a prime target for future drugs for the d...
On the defense: Conserved features of plant innate immunity
...lleagues study a plant autoimmune model in which a mutation
in one immune receptor, SNC1, causes constitutive activation of the plant's immune response. Dr. Li's group found that 3 key downstream effectors of the SNC1 pathway -- MOS4, AtCDC5 and PRL1 -- are homologous to components of the human spliceosome-as...
Banding together: RAS signaling of circadian output
...well as some affective disorders. While the band mutation
has facilitated Neurospora clock observation, rese...ms. The Dartmouth team demonstrate that the band mutation
is a dominant point mutation
in ras-1 that causes a slight increase in GTP exchange, and therefore s...
Scientists decode RNA mystery, will help aim drug therapies
...RNAs, thus providing a way to suppress or bypass a mutation
in a gene says Dinman. However, some drugs work o...best used for non-cognate cases. The nature of the mutation
responsible for a specific disease, whether it is near- or non-cognate, will determine the therapeut...
BRCA2 carriers at increased risk for deadly form of prostate cancer
... patients with the Icelandic BRCA2 999del5 founder mutation
and those without the mutation. Using a pool of ma...ts diagnosed in Iceland between 1955 and 2004. The mutation
was present in 30 patients (5.7%). The mutations carriers were younger at the time of diagnosis a...
'Lucky 13' as new gene discovery offers further hope for childhood blindness
...tani community. "If a parent is found to carry a mutation
in the LCA5 gene, the risk of blindness in their c...very important for everybody to know exactly which mutation
they've got, because the treatments being tested are specific for different kinds of retinal degener...
Genetic defect links respiratory disease and congenital heart disease
...cilia, primary ciliary dyskinesia (PCD). A genetic mutation
that impairs cilia movement causes the disease. A few children treated for PCD at UNC-Chapel Hill also had heterotaxy - an abnormal position of the heart and lungs associated with congenital heart disease. The research team wondered if PCD and hete...
ChemGenex announces publication confirming activity of Ceflatonin in T315I-Positive CML
...ciated with the T315I Bcr-Abl mutation. The T315I mutation
is known to confer resistance to both Gleevec (ima...ted resistance is increasing and confirm that this mutation
is likely to become the prevalent mutation
in those who fail tyrosine kinase inhibitor therapy. The ...
Researchers identify fifth gene responsible for Joubert syndrome
...ape of a molar tooth. The researchers discovery of mutation
in the gene (RPGRIP1L) now paves the way for definitive DNA testing that can more conclusively diagnose JS in some patients, and also identify asymptomatic carriers who might unknowingly pass the condition to their future children. In addition to i...
Crucial progress in understanding Fragile X mental retardation protein
...h FXS. Fragile X syndrome is mainly caused by a mutation
in the FMR1 gene on the X chromosome, leading to the loss of FMRP, which is abundantly expressed in the brain and testes. Without this protein, brain development is hampered and nerve cells cannot communicate with each other appropriately, resulting...
Bigger horns equal better genes
...n length discrepancies are evidence to support the mutation
accumulation theory of ageing, which is the idea that, because natural selection weakens with age, genetic mutations have effects that accumulate over time. Therefore, differences in genetic quality become more apparent as an organism ages. Coltma...
American Chemical Society's Weekly PressPac -- May 30, 2007
...cing defective genes with normal copies. In SCD, a mutation
in the gene that encodes for beta globin results in abnormal hemoglobin that gives red blood cells a sickle shape. Concerns about potential risks and other problems with viral vectors, however, have become barriers to use of gene therapy. Using l...
Discovery in orange cauliflower may lead to more nutritious crops
...w, Cornell researchers have identified the genetic mutation
behind the unusual hue. The finding may lead to mo...aize, potato, rice, sorghum and wheat. The genetic mutation
recently isolated by Cornell plant geneticist Li Li and colleagues -- and described in the December ...
JCI table of contents -- June 1, 2007
...common mutations observed in patients with HBIM a mutation
in Gne/Mnk produced lower amounts of sialic acid, had blood and excess protein levels in their urine, and had structural defects in the glomerulus (a bundle of capillaries in the kidney that are actively involved in the filtration of blood). The aut...
Researchers discover inherited mutation for leukemia
...searchers have discovered the first inherited gene mutation
that increases a person's risk for chronic lymphoc...the disease. The study shows that the inherited mutation
greatly reduces the gene's protective activity. Furthermore, a second kind of change occurs later th...
Understanding why C. difficile causes disease -- it's hungry
...rotein called C that prevents R from acting. A mutation
in the C protein gene, leaving R unchecked, is the cause of the hypervirulent strain. Sonenshein and his colleagues are currently working to identify a protein that might shut down the gene that codes for R. By identifying such a protein, Sonenshein...
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