Sentences with phrase «affect gene function»

These small differences in DNA sequence, or genetic variation, may or may not affect gene function.
Although they rely on certain assumptions, such as the ability to define which variants truly affect gene function, aggregation tests have another thing going for them.

Not exact matches

In individuals affected by SMA, the survival motor neuron - 1 (SMN1) gene is mutated and lacks the ability to process a key protein that helps neurons function.
The goal of early SMA drug discovery programs has been to identify small molecules that induce the SMN gene to produce sufficient levels of protein to improve motor neuron functioning in affected patients.
In individuals affected by SMA, the spinal motor neuron - 1 (SMN1) gene is mutated and lacks the ability to process a key protein that helps muscle neurons function.
Variability in the tail — in length or in their position, affects the function of the messenger molecules, and hence influences gene expression.
Previous studies have looked mainly at genes causing atherosclerosis and genes affecting the function of platelets and clotting processes as risk factors for ischemic stroke (clot obstructing blood flow to the brain).
More than a hundred sites in the genome showed strong evidence of recent selection, including genes that affect muscle tissue, hair, hearing, immune - system function, skin pigmentation, sense of smell, and the body's response to heat stress.
This epigenetic alteration of gene activity in brain cells that receive this neurotransmitter showed for the first time that dopamine deficiencies can affect a variety of behavioral and physiological functions regulated in the prefrontal cortex.
One gene that controls this pathway, HDAC7, is known to be a key factor in immune tolerance and the new data strongly suggests exploring the possibility that drugs affecting HDAC7 function may serve as future therapeutics in PSC.
Three decades of research have shown that loneliness can affect levels of stress hormones, immune function, and even gene expression, while human interaction increases levels of oxytocin, a bonding hormone that reduces blood pressure and cortisol levels.
Additional research is also needed to determine how the C version of the gene affects the protein's function.
«Insertion of some transposable elements can affect the expression and function of protein - coding genes, so the cessation of mobile DNA activity may have slowed the rate of evolution of both genome structure and gene function
«Because many broadly expressed genes that play key roles in essential cellular functions are under the control of cell - specific enhancers, the ability to affect enhancer function by knocking down eRNAs could potentially provide a new strategy for altering gene expression in vivo in a cell - specific manner,» said Glass, noting that in his research, anti-sense oligonucleotides were developed in conjunction with Isis Pharmaceuticals, which suppressed enhancer activity and reduced expression in nearby genes.
Molecular analysis showed that heart cells in affected animals were poorly developed and had mitochondrial defects, indicating that Sap130 - Pcdha9 gene interactions play a crucial role not only in heart development but also in regulating metabolic function of the cardiac muscle.
A significant finding by the team was that either the mutant KRAS gene or another cancer gene is amplified, depending on which tumor suppressor gene is affected and to what degree its function is impaired.
The epigenetic pattern consists of molecules known as methyl groups, which are placed on the genes and affect their function and gene expression.
The goal of the NIH program, as described on its website, is «to understand the principles behind the three - dimensional organization of the nucleus in space and time (the fourth dimension), the role nuclear organization plays in gene expression and cellular function, and how changes in the nuclear organization affect normal development as well as various diseases.»
So even though the genes that cause ALS and SMA are different, they might share a common pathway that affects motor neuron structure and function
«Experience and environmental stimuli appear to almost constantly affect gene expression and function throughout the brain.
Chromatin is the protein packaging that helps regulate genome function by controlling access to DNA; changes in this packaging can affect gene regulation.
«We hope that in the future, by fully understanding how this gene affects signaling in the brain, we may be able to identify drugs to restore the normal signaling balance in neurons and improve cognitive and social function in patients,» says lead author Dr. M. Chiara Manzini.
Since proper functioning of the fat body is essential for the development of the female reproductive system after a blood meal, identifying which miRNAs are important to fat body functions, and what specific genes they target, can help design ways to manipulate the levels of microRNA or their targets, affect their interactions, disrupt mosquito reproduction, and thus prevent the spread of diseases the mosquitoes transmit.
«We are hopeful that a systemic dose and delivery of gene therapy would broadly affect whole - body strength and function, and we are working on a host of projects for such systemic delivery in Pompe and other neuromuscular conditions,» said Barry Byrne, M.D., Ph.D., director of the Powell Gene Therapy Center, a professor of pediatrics in the UF College of Medicine, and a member of the UF Genetics Institgene therapy would broadly affect whole - body strength and function, and we are working on a host of projects for such systemic delivery in Pompe and other neuromuscular conditions,» said Barry Byrne, M.D., Ph.D., director of the Powell Gene Therapy Center, a professor of pediatrics in the UF College of Medicine, and a member of the UF Genetics InstitGene Therapy Center, a professor of pediatrics in the UF College of Medicine, and a member of the UF Genetics Institute.
With further research into how these genes affect the brain, it could become possible to understand how genes linked to schizophrenia affect people's cognitive function,» said McIntosh.
ERVs — perhaps inherited millions of years ago — may affect genes important to placenta function and thus may improve our ability to carry a pregnancy.
«What we are trying to do is identify the function of genes and how they affect the way the individuals process information and the structure of the brain.
Alsin's function isn't clear, but because the affected family members have two defective copies of the gene, called ALS2, the protein could play a role in motor neuron function.
Scientists are beginning to understand that genetic mutations are not the sole contributors to disease development and that the way in which genes are arranged in our cells can affect whether they function appropriately — that is, whether they are turned on or off.
So far, scientists have found that different populations of living humans have inherited the Neandertal version of genes that cause diabetes, lupus, and Crohn's disease; alter immune function; and affect the function of the protein keratin in skin, nails, and hair.
Alexander Wyatt says: «Despite the enormous complexity between patients at the individual gene level, when we examined the functions of affected genes, clear commonalities between groups of patients emerged.
They hit pay dirt on chromosome 10, finding such a marker in a region with several genes thought to affect heart function.
The regulation of the CAMP gene by vitamin D was discovered by Gombart, and researchers are still learning more about how it and other compounds affect immune function.
For now, Stadler's team wants to focus on the regions in which it found altered gene numbers to see how the CNVs affect gene and protein functions.
Chemical compounds that affect the functioning of genes can bind to our genetic material, turning certain genes on or off.
«But genes tied to autism tend to affect specific functions, such as the connections between brain regions that are essential to many human - specific behaviors, like speech and language.»
An improved understanding of the biological background of musical aptitude can contribute new insights into, for instance, genes that affect normal brain functions, the interactions between genes and the environment and the significance of music as a form of therapy.
«We found that endurance training in a coordinated fashion affects thousands of DNA methylation sites and genes associated to improvement in muscle function and health,» says Carl Johan Sundberg.
They found that the associated regions contained numerous candidate genes, among them genes known to affect ear function, language development, memory, bird song and the brain's reward mechanism.
They then used the model to predict how autism - linked variants in the NHE9 gene would affect the protein's shape and function.
As a result, the protein encoded by the affected gene has a patch, where only the building block glutamine can be found, disrupting that proteinâ $ ™ s usual functions in the body.
The current work shows that changes in the genetic code of a particular gene can control epigenetic marks at different genes, implying that a gene's genetic code can affect whether other genes are turned on and off, which makes it important to understand the function of all genes involved, not just the one with the so - called misspelling.
These mice are also primed for RNA interference from birth, so when the time comes — be it after the onset of the disease, or prior to — the team can turn off a specific gene to see how the loss of its function affects diabetes or the risk of diabetes.
Dr. Coyle's Laboratory for Psychiatric and Molecular Neuroscience takes advantage of insights into recently identified genes that confer risk for schizophrenia and related disorders and translates them into genetic mouse models to determine how these mutations affect brain changes as well as function, neurochemistry, and behavior.
The finding that bsl1 - 1 and bsl1 - 2 fail to complement and have SNP variation affecting dramatic changes in the coding capacities of the same gene demonstrate that loss of Sevir.7 G140700 function is responsible for the bsl1 mutant phenotypes.
The study also demonstrates an association between NCAN variations with volumes of certain brain regions in young adults and infants, suggesting that the gene is able to affect brain structure and function.
To better understand this complex tissues and its functions — and the diseases that affect it — a multicenter team led by researchers at the Broad Institute of MIT and Harvard and Massachusetts General Hospital has released a census of the cells that make up the lining of the small intestine, using gene expression profiles of more than 53,000 individual cells from the mouse gut or gut organoid models.
We found that an unusually high number of genes affected by these DNA deletions / duplications are associated with the functioning of synaptic transmission between nerve cells.
The next step based on these novel head and neck cancer discoveries, the scientists agree, is to tease out how the genes function in normal cells, whether they form the lining of the larynx, pharynx, or another anatomical site affected by head and neck cancer.
Although this compound exhibits a preference for AT - rich regions, overall it is expected to affect expression of a multitude of different genes involved in diverse biological functions.
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