Sentences with phrase «by genetic mutations which»

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Genetic mutations could occur at which could elevate their potential for causing widespread harm, thus close observation by contagious disease specialists is merited.

The authors searched for genetic mutations that might explain the disproportionately high risk of SUDEP in people with poorly controlled focal epilepsy, which, by definition stems from a specific area of the brain.

It was previously shown by others that a rare disease called generalized pustular psoriasis (in which the skin erupts into pustules) was caused by a genetic mutation that resulted in unrestrained activity of a protein normally produced in our skin, called IL - 36.

«Our study connects the dots between Werner syndrome and heterochromatin disorganization, outlining a molecular mechanism by which a genetic mutation leads to a general disruption of cellular processes by disrupting epigenetic regulation,» says Izpisua Belmonte.

The work by Guan and colleagues unravels the causal relationship between the genetic mutations and tumor formation, and identifies a molecular pathway along which drugs might counterattack.

Women with the KRAS - variant are also more susceptible to triple - negative breast cancer, tumors whose growth is not fueled by the hormones estrogen and progesterone, or by the presence of a particular genetic mutation known as HER2, which promotes cancer cell growth.

As part of these ongoing research activities, the DNA of Dravet patients without SCN1A mutations was analyzed by trio exome sequencing, which searches across the active parts of the genome for de novo mutations that have arisen in these patients (de novo mutations are DNA copying errors that occur in the parents» gametes or in the fertilized egg or embryo, resulting in the afflicted family member being the first person in their family to have this genetic condition).

The researchers studied a form of the condition called Charcot - Marie - Tooth disease type 2A, which is caused by specific genetic mutations.

«However, genome editing raises a regulatory issue by creating indistinct boundaries in GMO regulations because the advanced genetic engineering can, without introducing new genetic material, make a gene modification which is similar to a naturally occurring mutation.»

Bacteria can become resistant to the antibiotic either as the result of a spontaneous mutation or by picking up an appropriate «resistance gene» (which codes for a protein that confers resistance) from another bacterium via genetic exchange.

Their achievement was aided by the progress in international cancer sequencing programs, which revealed characteristic sets of mutations and genetic variations in different cancers.

Defective genes can be caused by mutations in either the maternally - inherited mitochondrial genome (mtDNA) or more frequently, the genes located on the autosomes, the 23 pairs of chromosomes which are responsible for all traits and all other genetic diseases.

Unless an animal can recombine the DNA they already have, they will produce an offspring with an identical set of chromosomes, in which any genetic weakness, such as disease susceptibility or physical mutation, would have no chance to be overridden by outside genetic material from a mate.

By also examining this genetic region in two other families with similar disorders, the researchers were able to pinpoint a mutation in a specific gene, NT5E, which is involved in breaking down calcification in the arteries.

It is caused by a genetic mutation, which Dr. Baraban's group was able to introduce into the zebrafish to cause epilepsy.

To explore this question, the researchers examined the neurological impact of two enzymes that phosphorylate eIF2alpha, kinases termed PERK and GCN2, in different populations of AD model mice — all of which expressed genetic mutations akin to those carried by humans with AD.

The fatal genetic disease, which affects 30,000 Americans, can be caused by hundreds of different protein mutations.

Scientists at Mayo Clinic, Jacksonville, Florida created a novel mouse that exhibits the symptoms and neurodegeneration associated with the most common genetic forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease), both of which are caused by a mutation in the a gene called C9ORF72.

Washington State University researchers say environmental factors are having an underappreciated effect on the course of disease and evolution by prompting genetic mutations through epigenetics, a process by which genes are turned on and off independent of an organism's DNA sequence.

The boost in genetic information may have given the paramecium a survival advantage by allowing for more beneficial mutations, which drive evolution.

These mutations varied tremendously between populations, which counters a popular view that many of the differences between populations arose by chance or were genetic variants that hitchhiked along with other genes that improved reproductive success, says biological anthropologist Henry Harpending of the University of Utah, Salt Lake City, and co-author of another study of accelerated evolution.

A study by researchers at the Nishi - Niigata Chuo National Hospital in Niigata, Japan describes a host of genetic, physical, and clinical features associated with SPTAN1 mutations, which have been implicated in epilepsies of early infancy.

A new study in The Journal of Molecular Diagnostics describes a multi-method strategy to overcome existing technological limitations by more accurately identifying PMS2 gene mutations, which will improve diagnosis and support appropriate genetic counseling and medical management.

The research just published proposes that the normal biology of mRNA regulation in neurons, in which RNA is generally silenced and only activated in the correct place and time, makes it susceptible to both age - related decline and disturbance by genetic mutation.

PULLMAN, Wash. — Washington State University researchers say environmental factors are having an underappreciated effect on the course of disease and evolution by prompting genetic mutations through epigenetics, a process by which genes are turned on and off independent of an organism's DNA sequence.

Our work has implications for two human genetic diseases, which are caused by mutations in the ATP7B and ATP7A genes and lead to copper overload in the liver (Wilson Disease), due to the failure to excrete copper into the bile, and copper deficiency in many organs (Menkes Disease), due to the failure to deliver intestinal copper to the blood.

The lab has shown that when NMDAR function is impaired by a genetic mutation, they can recreate, in the mouse, the structural, neurochemical, and functional alterations in the brain that are characteristic of schizophrenia — for example, cognitive and memory impairments for which there are currently no effective treatments.

4/7/2008 From Bench to Bedside in One Year: Stem Cell Research Leads to Potential New Therapy for Rare Blood Disorder A unique partnership between industry and academia has led to human clinical trials of a new drug for a rare class of blood diseases called myeloproliferative disorders (MPD), which are all driven by the same genetic mutation and can evolve into leuk... More...

The 2013 study, which was led by David Altshuler (now chief scientific officer at Vertex Pharmaceuticals), had shown that one gene in that region, SLC16A11, harbored several suspicious mutations, and more detailed genetic mapping of the region strengthened the case for focusing on it.

Using genomics approaches, Dr. Nobrega has identified the gene IRX3 as the strongest association to polygenic obesity in humans, and characterized the mechanisms by which mutations altering the expression of a gene called TCF7L2 also represent the strongest genetic link to type 2 diabetes in humans.

Dr. Nobrega works in understanding the mechanisms by which genetic mutations outside genes are linked to the increased risk to various diseases.

The treatment, which has now received regulatory approval and which is being offered by the biotech company CRISPR Therapeutics, is aimed at curing a blood disorder known as β - Thalassaemia by correcting the genetic mutation responsible for the condition.

However, it is hard to understand why the specific religious concept which they regard as outdated superstition, should be replaced by another superstition, popular in 19 century, that a directed evolution of species can result from random genetic mutations and random environmental fluctuations.

Mutations, the fundamental process by which genomic variation is acquired, fuel evolution and are at the origin of all genetic disease.

An international team of researchers has identified the genetic mutations which allowed microalgae (phytoplankton) from the Southern Ocean to adapt to extreme and highly variable climates — a step towards understanding how polar organisms are impacted by climate change.

MX (another chlorinated acid): Another by - product of chlorination, MX is known to cause genetic mutations that can lead to cancer growth and has been found in all chlorinated water for which it was tested.

Broccoli is a good source of folate, which has been shown to be proactive in treating stomach, pancreatic and cervical cancers by preventing unwanted genetic mutations.

A strong family history might also indicate that you could be carrying an inherited genetic mutation, such as a mutation of a BRCA gene, which by some estimates might increase your lifetime risk of breast cancer to 65 percent and your risk of ovarian cancer to 39 percent.

Other forms of PRA that may also exist in the Breed, and which are caused by a different genetic mutation, have yet to be genetically identified.

Antioxidants aid the body by neutralizing dangerous, highly charged particles called free radicals, which can cause genetic mutations that lead to diseases such as cancer, diabetes, and even arthritis.

There are various different breeds with short tails (stumpy tails), which may be caused by different genetic mutations.

The Animal Health Trust launched a new DNA test for the genetic mutation which causes POAG, at Crufts 2015, after it was developed by the Kennel Club Genetics Centre at the Animal Health Trust and the Kennel Club has now approved an official scheme for the results to be recorded.

A genetic test has recently been developed for cerebellar ataxia, which causes a progressive decline in muscle coordination, first appearing between ages 3 and 5 years; now, by identifying dogs with the mutation, breeders can avoid producing it in their bloodlines.

There are various different breeds with such hair (probably caused by different genetic mutations), which may be very sparse in some cases.

The high accuracy of the ROYAL CANIN ® Genetic Health Analysis ™ and the information on specific genetic mutations require a blood test, which must be performed by a veteriGenetic Health Analysis ™ and the information on specific genetic mutations require a blood test, which must be performed by a veterigenetic mutations require a blood test, which must be performed by a veterinarian.

Many types of phytoplankton do increase their numbers rapidly but they propagate primarily by asexual reproduction, which makes it less likely for populations to accumulate the genetic mutations that could allow them to adapt.