Sentences with phrase «effect of mutations»

The difficulty in predicting effects of the mutation in the KRT71 gene is partly explained by the variance in appearance due to the effects of other hair trait genes, e.g. hair length and furnishings.

«It's looking at effects of mutations across different levels of biological organization.

«My work focuses on the molecular functions of SRY as a biophysical system, for example, while one bench away is a classmate who monitors the biological effects of mutations in a mammalian cell - culture system.

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.

The researchers considered two possible explanations: Disease suppression might be the result of one or two additional substitutions on the same gene that buffer the harmful effect of the mutation; or suppression may be caused by numerous small substitutions throughout the genome that form an aggregate «shield.»

«Second gene modifies effect of mutation in a dog model of ALS.»

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.

Researchers at the University of Oxford have discovered that a cellular mechanism preferentially protects plant genes from the damaging effects of mutation.

We are examining the biochemical effects of these mutations on the splicing process as well as studying the alterations in gene expression and alternative splicing caused by these mutations.

It appears that smoking increases the cancer forming effect of the mutation and increases the cancer risks in the CDKN2A mutation carriers.

Dlx5 homedomain / DNA complex; structure, binding and effect of mutations related to split - hand and foot malformation syndrome.

To determine the biological effects of the mutations are as this tells us something about how melanoma is caused and in the end that might help us to find new treatments for melanoma

If we can develop therapies that help them fight off the negative effects of the mutation, we're hopeful that people could expect more healthy years, thanks to the remarkable ability of the brain to cope with damage.

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.

The method has now been tested on a neuropeptide receptor and has been shown to be able to predict with great reliability both the effects of mutations and the receptor's ability to bind a series of different molecules.

Amaro wasn't just interested in the behavior of healthy p53: She wanted to understand the effects of mutations that the gene for p53 is prone to.

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.

And Brown notes that still - unidentified genes may moderate the effect of the mutation and spare the vision of most of the deaf.

Other researchers echo his warnings against exaggerating the effects of the mutation in human carriers, pointing out that there are probably around 100,000 carriers in Finland, but only a fraction of these have turned or will ever turn to violence.

«It's exciting to provide a characterized example of how genetic background can influence the effects of mutations.

This information is particularly valuable when indels are found in genes that already have drugs designed to counter the effects of mutation.

To investigate the earliest signals within a cell nucleus that lead to DIPG, researchers focused on the effects of a mutation in histone H3, a protein that acts like a spool on which the thread of DNA is wrapped, regulating gene expression.

We are now beginning to be able to compute the effect of mutations in the context of the rest of the genome.

Such interactions, when the effect of a mutation is dependent on another, are known as epistasis.

Because the effect of mutations on protein function might be dependent on the broader context of the human sequence, this approach will also lead to serious false negative conclusions, Katsanis warns.

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.

«This discovery makes it considerably easier to develop new medications that simulate the effect of this mutation,» explains Prof. Schunkert.

Tropsha now develops models to test the relation between structure and activity of drug candidates and studies protein folding and the effects of mutations on protein structure.

Until now, biologists have only had crude methods for estimating the average rates and effects of mutations.

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

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

By creating random mutations in the Cdc55 gene, the team analysed the resulting 987 mutant yeast strains, characterized the mutations and worked backwards to identify the role of the gene by looking at the effect of the mutations on the resulting colonies.

As it turns out, the effects of this mutation could be offset fairly easily, simply by having people with that polymorphism eat more niacin.

Tracing the effect of the mutation on TIA1 structure, the researchers found that it altered the properties of a highly mobile «tail» of the protein.

That might mean designing new drugs that block the effect of the mutation.

To further test the consequence of mating preference on the evolution of menopause, we modeled the effect of mutations having delayed age of onset, using stochastic, computer simulation of a population with constant size, without pre-existing diminished fertility in females, and involving mutations that affected fertility as well as mortality.

The effects of mutations and other genetic changes in cancer cells play out in the complex networks of molecular interactions or «signaling pathways» involved in cell growth, proliferation, and other hallmarks of cancer biology.

Scientists at the University of Dundee have identified the effects of a mutation that gives rise to a form of intellectual disability.

Moreover, researchers analysed in detail the effect of these mutations by using advanced engineering and genetic edition techniques and were able to demonstrate that the mutations are pathogenic since they impair the repair capacities of the EDC4 gene.

Evolution becomes blind to the effects of mutations that promote ageing as long as those effects only kick in after reproduction has started.

Final confirmation would depend on studies of the effects of the mutation of the expression of gene products at the levels of RNA and protein.

The effects of mutations may also vary depending on which ethnic group a person belongs to.

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.

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.

Researchers at Whitehead Institute have now uncovered a role for the protein - folding chaperone HSP90 in humans, not only as a modifier of the effects of mutations, but as a mediator of the impact of the environment on the function of mutant proteins.

The hope is to create a drug that mimics the effects of this mutation.

Although you can see the effect of the mutation on the zebrafish embryo, you do not know which gene is affected.