Sentences with phrase «people with the mutation»

Methods: Redox proteomics was used to identify oxidatively modified brain proteins in persons with mutations in the genes for presenilin - 1 (PS - 1).

In January the Food and Drug Administration (FDA) approved Kalydeco, the first drug to treat people with a mutation of that gene.

People with that mutation do not use folic acid and should not eat enriched foods.

People with the mutation also need to be monitored by an endocrinologist, because many will suffer from a condition in which their adrenal glands fail to produce enough of a stress hormone that is needed to fight infections.

«This suggests that dark - skinned people with this mutation probably don't develop melanoma as often and are therefore not tested for this specific mutation, presumably because they lack the risk - modifying pigmentation variants that increase the risk of melanoma,» says Dr Helgadottir.

The two studies together suggest that single copies of inactivating ANGPTL3 mutations are found in roughly one of every 250 people of European descent, whereas people with mutations in both copies of the gene — as in the family studied by Musunuru and colleagues — are much rarer.

Previous studies have shown that people with the mutation who also have certain pigmentation variants run an even higher risk of melanoma.

For people with this mutation, «the ridges don't even form to begin with, so that's going to interfere with sweat glands,» Reed says.

By picking out people with the mutation from a large population and then examining their lifestyles and family histories, researchers hope to be able to identify factors other than the mutation that are also linked to breast cancer.

Previous studies have found that several years before the disease manifests itself, the brains of people with the mutation undergo subtle changes, with a thinning of the regions involved in motor function.

If all ribosomes were alike, people with mutations in ribosomal components should have malfunctions all over their bodies, or might not ever be born.

This is useful clinical information and suggests that Amish people with the mutation should be monitored carefully and offered intervention as soon as symptoms arise.

People with this mutation can not turn soundwaves into signals that the brain can interpret, and so are deaf.

Like Krieger's mice, people with this mutation had high HDL but were also more likely to have coronary heart disease.

He was stunned recently when the Duke of Edinburgh, in for a formal visit, asked: «Why anyone would want to keep these people with mutations alive?»

While some people with these mutations had other health issues, such as infections, others did not, implying that mutations in CARD11 could cause atopic dermatitis without leading to other medical issues often found in severe immune system syndromes.

These findings may help explain why some people with mutations in certain ribosomal protein genes develop conditions such as Diamond - Blackfan anemia — a blood disorder in which the bone marrow doesn't make enough red blood cells — but don't have problems in other body tissues, Ware says.

Aside from a diminished sense of smell, people with the mutation were otherwise healthy.

The final yield was just 13 people with mutations that normally result in eight severe childhood disorders, the team reports today in Nature Biotechnology.

People with a mutation in the newfound gene have less gray matter (yellow) in the basal ganglia's caudate nucleus.

«People with mutations in the GABA receptor, who don't experience the same downsides from alcohol, may have fewer incentives to restrict their drinking.»

Assuming sequencing costs $ 5,000 now, it could cost $ 250,000 to find one person with a mutation.