Sentences with phrase «gene defect as»

The dogs were chosen because they have inherited a genetic disease caused by the same gene defect as some patients with human retinitis pigmentosa.

«Gene defect as a potential gateway for targeted prostate cancer therapy.»

Not exact matches

Our genome is nearly identical to the chimpanzee genome, a little less identical to the gorilla genome, a little less identical to the orangutan genome, and so on — and this correspondence is present in ways that are not needed for function (such as the location of shared genetic defects, the order of genes on chromosomes, and on and on).

Philadelphia — Ten years ago this month the promise of using normal genes to cure hereditary defects crashed and burned, as Jesse Gelsinger, an 18 - year - old from Tucson, Ariz., succumbed to multiorgan failure during a gene therapy trial at the University of Pennsylvania.

Damage to human chromosome 9 (of the cell's 24 pairs) where the gene that codes for E-NTPDase2 resides is known to cause eye and brain defects, such as microphthalmia — literally, small eyes.

Using a combination of old - fashioned clinical observation and modern biochemical analysis, he has shown that a person's appetite and their eating behavior can be linked to specific genes — and that even a tiny defect such as the absence of a single nucleic acid in a sequence of DNA can lead to runaway weight gain.

As reported in the title story of Nature Neuroscience's May issue, an international team has now progressed significantly in understanding gene defects responsible for ALS.

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

They found methylation defects on several human genes in the cord blood and placentas of ART embryos, suggesting that a similar effect might be occurring in humans as well.

Molecular scissors known as CRISPR / Cas9 corrected a gene defect that can lead to heart failure.

Eggleston's part of the project was aimed at finding genetic markers that would help biologists zero in on the genes that cause defects in purebred dogs, such as hip dysplasia and epilepsy.

However, if both genes are deleted, tumor growth slows — a phenomenon referred to as a synthetic growth defect.

Many groups, including Urnov's company, are already using gene - editing tools to develop therapies that correct genetic defects in people (such as by editing white blood cells).

For example, they identified SNVs in genes encoding the collagen proteins that make up bone and cartilage, and in genes where other mutations have caused defects similar to Ata's, such as fewer - than - normal ribs or short stature.

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.

The researchers set out to find the genes responsible for this growth defect and after years of work, they were able to discover the underlying gene, which they refer to as ICARUS1, reflecting the temperature sensitivity conferred by the gene.

The defect in the responsible mouse gene — called klotho, after the goddess in Greek mythology who spins the thread of life — accelerates the onset of disorders such as atherosclerosis and osteoporosis.

Factors such as eczema and rhinitis are associated with food allergy, possibly due to a certain gene defect that prevents the skin barrier from forming correctly, leading to possible exposure of the immune system to allergens.

This causes only mild thalassemia, but because other genes are deleted as well, there are additional problems — such as birth defects and mental retardation — that do not occur in most thalassemias.

Malaspina has not yet proved it, but she suspects that as men grow older they develop defects in the machinery that stamps this code on the genes.

• A mutant BRAF gene is either inherited, causing birth defects, or appears later in life, causing such cancers as lymphoma, colon cancer, melanoma, and lung cancer.

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.

All of the children were discovered to carry a mutation in the CLP1 gene and displayed the same symptoms, such as brain malformations, intellectual disabilities, seizures and sensory and motor defects.

Traditional genetic methods, such as looking at family trees and sequencing individual genes, have linked defects in 80 genes on the X chromosome to XLMR, but the discovery rate has slowed, suggesting that those techniques have reached their limit.

«We realized that studying the lithium response could be used as a «molecular can - opener» to unravel the molecular pathway of this complex disorder, that turns out not to be caused by a defect in a gene, but rather by the posttranslational regulation (phosphorylation) of the product of a gene — in this case, CRMP2, an intracellular protein that regulates neural networks,» added Snyder.

As a powerful tumor suppressor, p53 turns on genes that either halt cell division to allow time for repair of damaged DNA or, when all rescue attempts prove futile, to prevent cells with genetic defects from dividing, as this would fuel the development of canceAs a powerful tumor suppressor, p53 turns on genes that either halt cell division to allow time for repair of damaged DNA or, when all rescue attempts prove futile, to prevent cells with genetic defects from dividing, as this would fuel the development of canceas this would fuel the development of cancer.

CRISPR / Cas systems are known as promising «gene scissors» in the genome editing of plants, animals, and microorganisms by targeting specific regions in their DNA - and perhaps they can even be used to correct genetic defects.

In back - to - back papers published online July 28 in Science, researchers from the Broad Institute, Dana - Farber Cancer Institute, Johns Hopkins Kimmel Cancer Center, the University of Pittsburgh, and the University of Texas MD Anderson Cancer Center have confirmed genetic abnormalities previously suspected in head and neck cancer, including defects in the tumor suppressor gene known as p53.

Surveillance that is not stringent enough, on the other hand, would allow eggs with a lot of jumping gene - related errors to survive, and lead to a high level of birth defects, such as those caused by an incorrect number of chromosomes in the offspring.

I suspect the answer would come back «no» as this might constitute an affront to «human dignity» — but it has never been clear (at least to me) how «human dignity» can apply to a pre-implantation embryo, and if the gene editing had corrected a gene defect, in what way would it be harmed?

Indeed, mutations in multiple lysosomal genes result in severe neurodegeneration and it is becoming more clear that lysosomes also play a neuroprotective role in more common neurodegenerative diseases such as Alzheimer's disease that have not traditionally been associated with lysosomal defects.

Gata5 a potential diagnostic marker for congenital heart disease The finding also suggests that gata5 could be a potential new diagnostic marker for congenital heart defects, as the researchers demonstrated that gata5 regulates the expression of a gene known as nkx2.5 which, when mutated in humans, causes human congenital heart defects and disease.

«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.

After creating a pathological mouse model deficient for this gene, through the Gencodys Consortium (Genetic and Epigenetic Networks in Cognitive Dysfunction; http://www.gencodys.eu/), scientists from PHENOMIN and the IGBMC showed major memory defects, as well as significant symptoms of hyperactivity on this model.

What's more, inherited diseases can arise from a problem with one gene (a simple example is sickle - cell anemia, a condition caused by defects in a single gene that makes the hemoglobin protein), or from interactions among a range of genetic variations as well as, frequently, environmental stresses.

In humans, inactivation of the TBX3 gene causes a constellation of birth defects known as Ulnar - Mammary Syndrome.

Despite some similar symptoms such as lack of motor control, SMA is caused by an unrelated gene defect.

Working with TJ Cradick, director of the Protein Engineering Facility at Georgia Tech, Preininger is testing out CRISPR gene editing as a means of correcting the defect in this patient's cells, outside the body.

Mutations in the NF1 gene cause defects in the neurofibromin 1 protein, which acts as a tumor suppressor.

He gives as an example the fact that nearly 50 % of people of Mexican heritage, and a large percentage of Caucasian and black Americans all have some kind of MTHFR mutation that results in neural tube defects, but people of Italian descent living in Southern Italy who have these same mutations do not have the problems with neural tube defects simply because their lifestyle and environment make up for their genes.

Studies suggest that homozygous defects on this gene leaves excess copper in the extracellular matrix where, through a process known as the Fenton reaction, excess free radicals are generated which possibly damage cells and gobble up essential nutrients like selenium and zinc.

A DAO deficiency is what we might understand as the gene defect which makes it difficult for your body to «unload» histamine from your body — causing a histamine overload, and triggering all of those nasty symptoms that we previously mentioned.

Structure is controlled by genes that affect bones, muscles, tendons, ligaments, and growth rate, and health depends on gene interaction as simple as that governing progressive retinal atrophy (the dog either has it or he doesn't; there's no halfway) or as complex as that influencing various autoimmune diseases, seizures, or various circulatory defects.

It is likely that other (as yet unidentified) gene defects and other environmental and biological factors all influence the development of HCM.

Nature immediately weeds out that unhealthy gene package just as it does other serious congenital defects unless breeders intercede to prolong life.

Since all dogs with CEA have CH it can be managed in the same way one would manage any single gene recessive trait even though other as - yet unidentified genes cause the more serious defects.

Today, readers and cat lovers have contributed well over $ 100,000 — and as a result there's an inexpensive cheek swab test to determine if the gene defect exists (for feline hypertrophic cardiomyopathy) in Maine Coon and Ragdoll cats.

He's raised well over $ 100,000 — and as a direct result a genetic test was created to determine if a gene defect for HCM exists for two breeds.

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.

Other as yet unidentified genes, environmental effects, or regulatory DNA play a role in determining exactly what defects a dog will have.