Sentences with phrase «gene variants known»

In the new study, researchers calculated genetic scores from over 30 genes for more than 3000 children with no family history of type 1 diabetes but with gene variants known to convey type 1 diabetes risk and who participated in the TEDDY prospective cohort study.

But what about people who have inherited gene variants known to increase risk?

In addition to speeding up the development of brain plaques associated with Alzheimer's, a gene variant known as APOE4 also makes tau tangles — another signature of the disease — worse, researchers report online September 20 in Nature.

Last month, Valent's team reported the first gene variant known to confer wheat - blast resistance (C. D. Cruz et al..

PEOPLE with a gene variant known to be linked to aggression may have been born with key brain differences that could make them more likely to snap under pressure.

About a third were carriers of ApoE4, a gene variant known to increase the risk for heart disease (and Alzheimer's).

Not exact matches

Using a gene - sequencing technique known as whole - exome sequencing that targets only the DNA that encodes proteins, the researchers cataloged virtually every significant DNA variant in three families in which the condition is common.

This process known as «alternative splicing» and allowing a single gene to generate multiple protein variants is especially prevalent in the mammalian brain.

«Now, we know that epigenetic factors accumulate at a very different pace in each person, depending on the genetic variants of the lactase gene.»

In the journal Cell on July 27, researchers show how this DNA variant enhances the activity of a gene called endothelin - 1 (EDN1), which is known to promote vasoconstriction and hardening of the arteries.

Among the DNA variants known to cause Alzheimer's or increase risk of the disease, none are found in the tau gene.

Two important genes known to be close to the chromosome 15 variant region are involved with DNA repair and replication and with intracellular signaling.

However, when specifically asked about a variety of possible incidental findings, only 57 % wanted to know if they were found to have a gene variant that would cause an unpreventable and serious illness, and only 47 % wanted to know about a gene variant of uncertain significance.

Spalax naturally have a variant in the p53 gene (a transcription factor and known tumor suppressor), which is identical to a cancer - related mutation in humans, Band said.

In this research, the group looked at two variants of miR - 21, a microRNA «oncomiR» known to target tumor suppressor genes and which is highly expressed in a number of cancers as well as other proliferative diseases such as psoriasis.

Scientists also know dozens of gene variants that increase people's risk of lupus.

These 71 markers were found in the ANK1 and RHBDF2 genes, as well as ABCA7 and BIN1 which harbor known Alzheimer's disease susceptibility variants.

«We don't know if studying the fish will directly help us,» said Rohner, «but evolution has tried a lot of gene variants over millions of years and I think that's smarter than anything we can come up with, even with machine learning.

The NCP1 gene identified is not a known variant in humans; it is a rare mutation to the feline population.

Variants in the IQCB1 gene are known to cause retinal degeneration in humans.

Carrying a particular version of the gene for apolipoprotein E (APOE) is the major known genetic risk factor for the sporadic, late - onset form of Alzheimer's disease, but exactly how that variant confers increased risk has been controversial among researchers.

Three simultaneous reports involving more than 32,000 participants uncovered four new diabetes - associated gene variants, bringing to 10 the number of known non-Mendelian genetic risk factors for type 2 diabetes.

The new study focused on 40 cognitively healthy older adults between the ages of 65 and 75 who are carriers of a gene variant (APOE e4) that is known to contribute to the risk of developing late - onset Alzheimer's disease.

Next, iCAGES cross-references these variants to databases of known cancer - causing genes, using statistical analyses and machine learning techniques to prioritize the most likely driver genes.

Gene variants that confer a survival advantage in this way can spread through a population — a process known as natural selection.

«We know that most of these risk variants on their own play little role in the development of MS.. But mapping the collection of genes associated with MS represents an important advance in efforts to identify the key mechanisms behind its development,» Dr Harbo says.

A decade ago, they also identified a relationship between ALS and excess iron accumulation when they found that 30 percent of ALS patients in their clinic carried a variant of a gene known as HFE that is associated with iron overload disease.

Engelhardt's group was responsible for mapping associations between genetic variants and gene expression levels on different chromosomes, a connection known as «trans - expression quantitative trait loci (trans - eQTLS).»

But they found the same gene variant in the genome of a Denisovan, an extinct species of human known only from a cave in the Altai mountains in east - central Asia (Nature, DOI: 10.1038 / nature13408).

Many more people, however, carry a low - activity variant of the gene, known as MAOA - L.

Without knowing which gene variants were contributing useful properties, people simply selected the best plants for continued cultivation, in this case choosing plants that had large backpacks.

The Neurogenomiks research group, linked to the Achucarro Basque Centre for Neuroscience (EHUgroup) and the University of the Basque Country (UPV / EHU), has just had a research article published in the scientific publication Journal of Immunology; it details how they have managed to show that the gene known as ANKRD55 produces 3 different transcripts of the messenger RNA, and that the genetic variant associated with MS greatly increases the production of these transcripts.

While the team doesn't know the function of those Neandertal gene variants, it began to search for their influence by examining brain tissue from the prefrontal cortex of 14 adults of European, African, and Asian descent, as well as 14 chimpanzees.

Ishii and his team chose to focus on two histone variants named TH2A and TH2B, known to be specific to the testes where they bind tightly to DNA and affect gene expression.

Other medical sequencing projects will use DNA sequencing to: discover new genes that are involved in common diseases; identify the genes responsible for dozens of relatively rare, single - gene (autosomal Mendelian) diseases; sequence all of the genes on the X chromosome from affected individuals to identify those involved in sex - linked diseases; and survey the range of variants in genes known to contribute to certain common diseases.

The researchers discovered a single letter variant located in TP53, a gene known to play a central role in tumor biology and for accumulating so called somatic mutations, during the development of cancer in patients.

To counteract this problem, Spark Therapeutics began to develop a therapy that involved using a variant of the Factor IX wildtype gene known as Factor IX - R338L.

In terms of the potential impact of the risk - associated variants, about half the risk for both disorders appears to be accounted for by variants already known to influence the expression of genes in the brain.

In each case they checked tiny sites of known DNA - sequence variations — «single nucleotide polymorphisms» — that mark common gene variants.

The researchers, chiefly from the Broad Institute, Harvard Medical School and Boston Children's Hospital, found that a person's risk of schizophrenia is dramatically increased if they inherit variants of a gene important to «synaptic pruning» — the healthy reduction during adolescence of brain cell connections that are no longer needed.

In addition to these changes, multiple minor, naturally occurring genetic variants, also known as polymorphisms, have been described in the p53 gene.

They did their best to filter out genes known to have random monoallelic expression, single - allele expression due to sequence variants, or RNA patterns that might look like monoallelic expression due to technical issues with the sequencing.

Closer examination of this gene variant suggested it may regulate the expression of a neighboring gene, SLC39A8, which is known to help protect the airways and lungs from inflammation and cellular damage.

Most of the DNA variations in AMD patients are found outside of the genes, and it is extremely hard to know whether these variants are actual mutations and what genes they affect.

In a new study, Sklar and her colleagues are scanning 500,000 gene variants, known as single nucleotide polymorphisms, obtained from a sampling of patients with bipolar disorder.

Phenotypes that result from changes (i.e., variants) in a single gene (i.e., monogenic) and that can be transmitted from parents to offspring in Mendelian patterns, such as autosomal dominant, autosomal recessive, X-linked, are known as Mendelian phenotypes.

In most cases, the researchers know only of the association with the identified gene variants, and not what the genes might specifically do.

Duke University and other researchers have noted a strong association between development of AMD and presence of a variant of a gene known as complement factor H (CFH).

By sequencing the exomes of multiple individuals, isolating what we'd call «tier 1» variants — Nonsynonymous, nonsense, splice site, or frameshift - indel — and then removing all known common variants from public databases, Dr. Shendure and colleagues can reduce 20,000 gene candidates down to a handful.

Importantly, the new process relies on strategically positioning the gene encoding the capsid variants on the DNA strand between two short sequences of DNA, known as lox sites.