Researchers determine genetic cause of Timothy syndrome
...s in autism. Cell culture studies of the mutated version of the channel revealed that it did not re...channels in general. "Our findings showed that the mutated region is required for inactivation of the channel, which was not previously appreciated," he said. ......iology in Los Angeles. Earlier studies showed that mutated mice without amelogenin produced defective enamel. Other experiments set out to pinpoint the part of the protein responsible, pointing researchers toward the proteins so-called carboxyl terminusa region made up of many negatively charged amino acids....Researchers ID chlorophyll-regulating gene
...eak through the soil surface. "We found that mutated plants had twice the levels of protochlorophyll th...die when they were exposed to light." The mutated seedlings failed to switch off production of protochlorophyll throughout the germination period, so ...Anthrax enzyme images reveal secrets of antibiotic resistance, suggest new drug design
... cell make folate," White said, "and if the enzyme mutated enough to avoid the antibiotic, the change in shape of this critical part of DHPS would destroy its ability to bind DHPP anyway. Either way, our new molecule looks like it could be the basis of a very effective new antibiotic against anthrax bacteria...Scientists discover potential new way to control drug-resistant bacteria
...e viruses to infect and destroy bacteria that have mutated and become drug-resistant." "This powerful and innovative research opens up numerous possibilities for developing drugs and vaccines that can control resistant bacteria, which are a growing public health concern," says David L. Klein, Ph.D., who o...Experimental drug shown to block mutant protein causing blood disease
...bnormal FLT3 kinases. MPD is caused by a different mutated kinase, FGFR1, which is inhibited by PKC412. The mutation occurs when two broken pieces of the chromosome that carries the FGFR1 gene join together abnormally. The findings suggest, the authors write, that PKC412 may be effective in treating MPD, as ...Loss of the neuronal adhesion protein d-catenin leads to severe cognitive dysfunction
...interact with Presenilin 1, the protein most often mutated in Familial Alzheimer's disease. Despite these observations, until now there has been no evidence that specific deletions of d-catenin were sufficient to produce cognitive deficits. Also, although adhesion proteins have been shown to be critical for...Convulsions in worms mimic epileptic seizures
...the LIS1 mutation. Caldwell's team now thinks that mutated LIS1 might misdirect the movement of synaptic vesicles. If vesicles fail to migrate properly to the end of the cell, GABA neurons might release less neurotransmitter and therefore not fire properly. That, in turn, could lower the worms' convulsion th...Researchers identify the genome's controlling elements
..., such as diabetes and cancer, are associated with mutated gene regulators, which is one reason why scientists are so interested in them. The problem is that very few of these regulators have been identified in any organism. Locating their landing sites is essential to identifying their function, and there...Mouse study shows NPAS3 and NPAS1 genes may be linked to psychosis
...whether the abnormal behavior we observed in these mutated mice can be directly connected with human disease. On the other hand, we find it intriguing that members of a Canadian family carrying a mutation in the human NPAS3 gene have been reported to suffer from schizophrenia." Normal mice in a pen will cl...How an insidious mutation fools DNA replication
...ymerase's function as it created both accurate and mutated strands from the template. The biochemists encountered a surprise when they analyzed the polymerase crystals with either the correct or mismatched nucleotides. "We saw that, ironically, when the polymerase binds the correct cytosine opposite 8-oxogua......in the genome.Although laboratory experiments with mutated mlo-genes confirmed a correlation to the resistance, the detailed genetic analysis revealed no causal differences between the DNA sequence of the mlo gene from resistant and susceptible plants. Thus, the precise mechanism behind this resistance remai...Leukemia stem cells identified by Stanford researchers
...d that the cancer started when a normal adult cell mutated and gained the ability to self-renew. Another surp...t proteins activating the Wnt pathway are commonly mutated in several types of cancer. What's more, a strain of mice in which Wnt is inappropriately activated ...Evolvability could be a driving force in drug resistance
...on that recorded how much and how rapidly proteins mutated based on external changes in their environment. As...creased likelihood of survival among proteins that mutated more frequently. "Selection for evolvability would help explain a growing body of experimental resul...UCSD researchers are first to demonstrate molecular link between inflammation and cancer
...lls. It is a normal process the body uses to kill mutated or chemically transformed cells, as well as useful cells that have outlived their purpose. Evading apoptosis is one of the hallmarks of cancer. In their study, the UCSD team found that apoptosis was increased in mice bred without IKK beta. Specifica...UCI study reveals gene linked to breast cancer can suppress tumors
...er in men; up to 80 percent of women who have this mutated gene ultimately develop breast cancer. Healthy BRCA1 genes are involved with repairing DNA damage, promoting chromosome stability and regulating cell growth activity, but this study has identified a novel and potentially important role as a tumor sup......d bone that form the vertebrate head. In zebrafish mutated for a gene called integrina5, the authors report, a specific region of the jaw support (hyosymplectic) cartilage fails to develop. Integrins are cell surface proteins that promote cell adhesion and signaling. Crump et al. show that Integrina5 promote...JCI Table of Contents, 15 July 2004
...d a dominant negative mechanism, which is that the mutated fibrillin-1 proteins created by this single mutated gene would interfere with the normal mechanisms for building connective tissue. While this molecula...Findings suggest need for new view of p53 cancer protein's interaction with DNA
PHILADELPHIA Perhaps the most commonly mutated of all cancer-linked genes is the gene for a tumor suppressor called p53. Scientists estimate that at least half of human cancers involve mutant p53. In the course of performing its regular duties, the normal p53 protein binds to DNA, and a number of...U of T microbiologists achieve results with pattern recognition software
...mple of how to do this in biology." To create each mutated strain, the researchers used a technique in which adding the drug doxycycline to the yeast cells disables an individual gene. This technique is a reliable alternative to the more common method of causing mutations by radiation, because the mutations ...