Sentences with phrase «effects of the mutation in»

By examining the effects of mutations in the fruit fly's DNA, researchers have gained insights into everything from aging to addiction.

Wagenseil's novel approach, recently published in Heart and Circulatory Physiology, focused on the genetic signaling and mechanical effects of mutations in lysyl oxidase, or LOX.

Shokat believes the new results may make researchers go back and look at the assumptions they've made in interpreting the effects of mutations in other G - proteins» «off» switches.

Other projects focus on studying how mutations found in the genes for skeletogenic transcription factors cause skeletal and other defects in human patients and finding ways to overcome the negative effects of these mutations in patients.

Such treatments, if discovered, could counter not only the effects of mutations in SLC16A11, but also potentially any T2D - associated variants that may trigger the disease through similar mechanisms.

Not exact matches

This team also discovered 3,200 genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent in the population because of their detrimental effect on human health.

The probability of a randomly selected mutation in a randomly selected gene having precisely that effect is quite low, so just as with the stones in the field, a positive finding is more likely than not to be spurious — unless the experiment is unbelievably successful at sorting the wheat from the chaff.

In this paper, I tried to interpret evolution as a continually shifting balance, spatially and temporally, among what I called the pressures of mutation, selection, and migration on gene frequencies, in conjunction with the effects of random drift composed of random variations in these pressures and of local accidents of samplinIn this paper, I tried to interpret evolution as a continually shifting balance, spatially and temporally, among what I called the pressures of mutation, selection, and migration on gene frequencies, in conjunction with the effects of random drift composed of random variations in these pressures and of local accidents of samplinin conjunction with the effects of random drift composed of random variations in these pressures and of local accidents of samplinin these pressures and of local accidents of sampling.

«The identification of a mutation in PER3 with such a strong effect on mood is remarkable,» McCarthy says.

In nature, advantageous amino acid substitutions may be promoted by positive selection, but the general structural distributions of positively selected mutations and their effects on protein function remain poorly examined.

Using several techniques to gauge the effects of these mutations, which are the most common type of variant in the human genome, Akey estimated that more than 80 percent are probably harmful to us.

When compared to the enhanced alpha - synuclein production in the familial form of the disease, the modest effect created by the A to G mutation would be sufficient over a lifetime to increase the risk of PD, according to Soldner.

The mutation in alcohol dehydrogenase would have protected those who had it from some of the nefarious effects of alcohol and alcoholism.

One of the side - effects of this therapy is autoimmune intestinal inflammation — analogous to the inflammation that occurs in patients with the CTLA - 4 gene mutation.

Zebrafish are commonly used to model human diseases, in part because their larvae are transparent, making it easy to see the effects of genetic mutations or drugs.

The mutation is less common in non-Amish Caucasians of European descent (0.2 %), thus the higher prevalence of the mutation in the Amish makes it possible to characterize its full range of effects.

«We hypothesized that individual mutations in viral genes could be expected to have a range of effects on the virus's ability to replicate, to infect new cells and escape the immune system,» Carlson says.

P53 mutations tend to be clustered in the core of the protein, where it binds to DNA, and they have similar effects on its shape.

To determine the effect of mutations that reduce TET2 function in abnormal stem cells, the research team genetically engineered mice such that the scientists could switch the TET2 gene on or off.

She did her master's degree research project at the Institute of Biochemistry and Biophysics (IBB), also in Warsaw, looking at the effect of genetic mutations on the function of an enzyme involved in the biosynthesis of heme, using Saccharomyces cerevisiae as a model organism.

Similar to the naturally occurring effects of TET2 mutations in mice or humans, using molecular biology techniques to turn off TET2 in mice caused abnormal stem cell behavior.

According to new research published in PLOS Pathogens, certain mutations in the genome of influenza A may help counteract the weakening effects of other mutations.

The expansion of the human brain may have involved a snowball effect, in which initial mutations caused further mutations that enhanced the brain even more

The view of mutation put forward in the Three - Man Paper, which Schrödinger espoused so vigorously, had no effect on subsequent events, and his suggestion that new laws of physics would be discovered through the study of the material basis of heredity was completely mistaken.

The study, which compared each model's success in Caucasian women with those of Asian descent (Chinese, Japanese, Filipino, Korean and Vietnamese), also raised important questions about the effect of race on cancer development: When Caucasian and Asian patients with similar family histories of breast and ovarian cancer were compared, the Asian women had higher rates of genetic mutation, although the rates of these cancers for Asians have traditionally been lower.

In mice with a genetic deletion of DARPP - 32 or with point mutations in phosphorylation sites of DARPP - 32, the effects of D - amphetamine, LSD, and PCP on two behavioral parameters — sensorimotor gating and repetitive movements — were strongly attenuateIn mice with a genetic deletion of DARPP - 32 or with point mutations in phosphorylation sites of DARPP - 32, the effects of D - amphetamine, LSD, and PCP on two behavioral parameters — sensorimotor gating and repetitive movements — were strongly attenuatein phosphorylation sites of DARPP - 32, the effects of D - amphetamine, LSD, and PCP on two behavioral parameters — sensorimotor gating and repetitive movements — were strongly attenuated.

This expansion may have involved a kind of snowball effect, in which initial mutations caused changes that were not only beneficial in themselves but also allowed subsequent mutations that enhanced the brain still further.

«One of the major and immediate downstream effects of myc activation is a dramatic increase in the capacity of affected cells to make protein,» Ruggero said «This, in turn, leads to increased cell survival and proliferation, and to unstable genomes that foster additional mutations that turn these abnormal cells into tumor cells.»

The scientists now are planning a study to assess the effect of supplemental glutamine and leucine, another amino acid that activates mTORC1, in people with atopic dermatitis with and without CARD11 mutations.

That pattern of inheritance would suggest the strong effect of a single gene mutation, and it would most likely crop up in families that had a lot of shared genes through the intermarriage of first cousins.

In the new study, the researchers examined the effects of gene mutations known to be associated with ASD in humanIn the new study, the researchers examined the effects of gene mutations known to be associated with ASD in humanin humans.

This time, it's a specific mutation in the EPSPS gene that guards the plant against the effects of glyphosate.

When scientists use CRISPR / Cas 9 to insert genes, there could be unintended effects or mutations in other parts of the genome.

Because it doesn't aim at reducing mosquitoes» health or ability to reproduce — reducing «fitness» in the Darwinian sense — a FREP1 inactivation would create less of an opportunity for mosquito mutations that resist its effects.

«Because the C282Y gene helps to control the effects of lead in the body and the mutation was spread randomly in the children, the findings of our study are difficult to explain unless lead is, in fact, part of the cause of ADHD, not just an association,» explained Nigg.

On the other hand, without high levels of suPAR, the ability of the genetic mutation of APOL1 to exert its damaging effects is impaired, which helps identify patients in most need of suPAR lowering or future anti-suPAR therapy.

The study focuses exclusively on the type of evolution known as purifying selection, which favors mutations that have no or only a small effect in a fixed environment.

With the advent of genome engineering, scientists are now introducing hundreds of different human mutations in other species to study their effects and develop new drugs.

«So perhaps in this age of cancer genomics showing how diverse and heterogenous human cancer is, we should be focusing on the common effects that different mutations lead to,» he says.

Since whole - brain radiation is associated with significant cognitive effects and the use of additional radiation therapy for progression is common in this population, the Yale researchers suspect that patients with the ALK mutation would benefit from radiation focused on individual metastases.

We have been using cell culture models and zebrafish as an assay to determine the effects of BMP on signaling, but we also want to be able to understand what the effect of the mutation is in the tissue and organ systems.

Not only does this let them build up complex tissue components like the mammary gland, but also to experiment with specifically adding in a single cell with a known cancer mutation to different parts of the organoid to observe its effects.

The discovery of a «maternal age effect» by a team of Penn State scientists that could be used to predict the accumulation of mitochondrial DNA mutations in maternal egg cells — and the transmission of these mutations to children — could provide valuable insights for genetic counseling.

Still, these disorders can provide some intriguing insights, says W. Ted Brown of the Institute for Basic Research in Developmental Disabilities in Staten Island, N.Y. «Mutations in one gene can produce a set of effects that dramatically resemble aging.

But in a polyploid organism such as wheat, mutations in individual genes often have no apparent effect, because additional copies of the mutated gene compensate for the loss.

The speedup that Pande envisions would allow computers to simulate many proteins at once, or much more rapidly study the effects of different chemicals or mutations on proteins, says biological physicist José Onuchic of the University of California, San Diego, who was not involved in the project.

Importantly, normal cells in the body do not have SETD2 mutations, so these effects of WEE1 inhibition are potentially very selective to cancer cells.»

As in the previous group, the effect was most pronounced among patients who received chemotherapy rather than radiation — but most women in the second group had received an older kind of chemotherapy, so the researchers couldn't confirm the effect of the NQO1 * 2 mutation on the now - common epirubicin therapy.

It's important to note that the effect of these mutations was observed in Ashkenazi Jewish populations and non-Jewish populations.

Such dramatic effects on brain size and function are unlikely in human carriers of BRCA1 mutations, the authors of the study note, but they propose the findings could shed light on the gene's role in brain evolution.