Sentences with phrase «defect in this gene»

Currently, there is no cure for the debilitating diseases caused by defects in these genes.

They hope eventually to understand the actual biochemical defect in the gene.

Hemophilia B is caused by defects in the gene for factor IX, a blood clotting protein.

Limb malformations are among the most common human birth defects, including the rare disorder Holt - Oram Syndrome, characterized by external shortened arms and hands and associated with defects in a gene closely related to Tbx4.

Although mutations had been identified in other genes important for the recycling of bile acids, this is the first report in humans of disease - associated defects in this gene, called Organic Solute Transporter - beta (SLC51B).

X-linked SCID, the most common form of SCID, is caused by defects in a gene encoding a critical protein called the common gamma chain.

Because of defects in the gene for the enzyme, fat clogs up blood vessels in the gut and pancreas of those with LPLD.

In his previous work, CSHL Associate Professor Zach Lippman and Israeli colleagues identified a rare example of hybrid vigor involving a genetic defect in the gene that makes florigen, a hormone that controls the process of flowering and flower production.

It is not known whether tryptophan byproducts from L. reuteri induce the cells to develop in people as they do in mice, but defects in genes related to tryptophan have been found in people with inflammatory bowel disease.

Even small defects in the genes that assemble tubulin are associated with serious developmental disorders, such as Kenny - Caffey syndrome and Giant Axonal Neuropathy.

He grew intrigued by ASPM after other researchers discovered that serious defects in the gene cause microcephaly — a drastic reduction in the size of the brain's cerebral cortex, the region responsible for such higher brain functions as abstract thought and planning.

One of the off - target enzymes is called PNPLA6; previous studies have linked defects in the gene encoding for PNPLA6 to rare neurological disorders.

Children born with one form, LCA2, have defects in a gene called RPE65 that helps the retina's light - sensing cells make rhodopsin, a pigment needed to absorb light.

Defects in this gene mean it can no longer fulfil its role as a regulator that helps purge the body of autoreactive immune cells termed T cells that can react against the body's own proteins, mistaking them for a foreign invader.

They want functional tests demonstrating that defects in your gene improve the growth, survival, proliferation, or metastatic potential of cells.

We plan to extend this discovery by developing a model of TBK1 glaucoma that will facilitate studies of the basic mechanisms by which defects in genes cause the disease.

Built on a new understanding of how a particular defect in a gene can disrupt the workings of the body, the drug zeroes in on critical proteins inside cells to keep them functioning.

A single defect in a gene that codes for a histone — a «spool» that wraps idle DNA — is linked to pediatric cancers in a study published today in the journal Science.

He is also developing a yeast model of a rare disease called Lesch - Nyhan syndrome, in which individuals develop severe neurological and behavioral symptoms due to defects in a gene affecting purine metabolism.

In humans, we are aware of a few cancers which are caused by inherited defects in genes, such as the BRCA - 1 and BRCA - 2 genes.

People with LPLD lack the enzyme because of defects in the gene that makes it.

I mentioned earlier that veterinarians believe that the underlying cause of hypertrophic cardiomyopathy (and perhaps the other cardiomyopathies as well) is a genetic defect in genes that direct how the heart muscle is constructed.

Hemophilia B is caused by defects in the gene for a protein called clotting factor IX (FIX).

Brown believes that about half of the inherited cases of ALS may be the result of mutations in the gene, and he suspects that some of the spontaneous cases may also be caused by defects in this gene.

Recently he found that eight of the youngsters have a defect in a gene that codes for a receptor protein called melanocortin - 4, known to regulate eating in mice.

One of these mutants was found to have a defect in a gene the team calls moc1, for «Monokaryotic Chloroplast 1.»

A second group has found in an obese woman a defect in the gene for a hormone - processing enzyme.

Most obese people have plenty of good leptin, so a defect in this gene isn't a widespread problem, says O'Rahilly.

One team has found in two children mutations in the gene for the metabolic hormone leptin, which in mice tells the body it's satiated; defects in this gene had not previously been found in obese people.

A defect in a gene that produces dopamine in the brain appears to accelerate the onset of Parkinson's disease, according to new research from Iowa State University.

DMD is a rare disease affecting primarily boys and is caused by defects in the gene that makes the dystrophin protein.

Mice with a defect in the gene that produces a protein called Klotho are born normal but start to age quickly, developing skin and muscle atrophy, osteoporosis, arteriosclerosis, and pulmonary emphysema — all symptoms of aging in humans.

The babies are all suffering from a rare hereditary disease called Hurler's syndrome, caused by a defect in the gene that produces the enzyme.

When they screened the KE family to see if some carried a defect in this gene, all affected members turned out to share a specific mutation that apparently rendered FOXP2 inactive, the group reports in the 4 October issue of Nature.

In CF a defect in a gene for a transporter protein involved in mucus production affects many organs and tissues, but its most serious effects are often seen in the lungs.

Now, the UCSF researchers believe they have solved the conundrum: In the October issue of Nature Medicine, they report that while some tumors responding to Onyx - 015 have mutations in the p53 gene itself, others have a defect in another gene, known as p14 ARF, which is located «upstream» in the p53 pathway and which indirectly regulates p53 function.

«This surprising finding means we have to quit thinking of diabetes purely as a defect in glucose metabolism and starting thinking of it as possibly a defect in gene expression,» said Bell.

Institute researchers have learned that basal cell carcinoma, the most common human cancer, is caused by a defect in a gene that restrains cell growth.

The disease, caused by a defect in the gene apolipoprotein E, leads to premature hardening of the arteries, formally known as atherosclerosis.

Though not entirely true, it can be assumed that if you have defects in genes associated with color genetics you might also have nervous system defects because both types of cells are derived from the neuronal crest.