Sentences with phrase «variant in a single gene»

Researchers once thought that the groups» distinct physiological and behavioral profiles stemmed from a variant in a single gene.

Not exact matches

No particular genetic variant was shared across all synesthetes in all three families, suggesting there is no single «synesthesia gene» or set of genes.

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

Reviewing thousands of genome wide associate studies (GWAS) to identify genetic variants in single nucleotide polymorphisms (SNPs), investigators at Dartmouth's Norris Cotton Cancer Center found that some alleles (one of a pair of genes located on a specific chromosome) are more frequently risk - associated with disease than protective.

In all, the study included the data of more than 23,000 people to show that approximately 12 percent of a person's variation in delay discounting can be attributed to genetics — not a single gene, but numerous genetic variants that also influence several other psychiatric and behavioral traitIn all, the study included the data of more than 23,000 people to show that approximately 12 percent of a person's variation in delay discounting can be attributed to genetics — not a single gene, but numerous genetic variants that also influence several other psychiatric and behavioral traitin delay discounting can be attributed to genetics — not a single gene, but numerous genetic variants that also influence several other psychiatric and behavioral traits.

Although the gene sequences were not identical to the Mikovits - Ruscetti XMRV gene sequence reported in Science, they were so close Lo believed he had found genetic variants of a single MLV - like virus species that likely included XMRV.

In many cases, the activity of particular genes was tied to a single genetic variant, with strong differences in frequency between European and African populationIn many cases, the activity of particular genes was tied to a single genetic variant, with strong differences in frequency between European and African populationin frequency between European and African populations.

Hereditary predisposition to cancer is sometimes due to a single high - risk genetic change, like a mutation in the BRCA1 or BRCA2 genes for breast cancer, but most of the time, the disease is the result of multiple gene variants that add up, environmental risk factors, and a big element of chance.

He has worked in the biotech industry as a research scientist for over 11 years with a focus on emerging technologies including gene targeting in mice, molecular analysis of transgenes using GFP variants at the single cell level, and developing flow cytometry reagent kits to speed up assay development time for researchers.

BROCA detects all single base substitutions, insertions and deletions and copy number variants in all 24 genes implicated in breast cancer.

Now, a study led by a researcher at the Salk Institute has found that variants of a single gene can largely determine a plant's ability to thrive in environments where iron is scarce.

«Identifying these gene variants linked to both type 2 diabetes and CHD risk in principle opens up opportunities to lower the risk of both outcomes with a single drug,» said study co-senior author Danish Saleheen, PhD, an assistant professor of Biostatistics and Epidemiology.

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 results also showed that polymorphism, a genetic variant that can change the way a particular gene functions, is possible under a wide range of conditions, which results in a single population playing a variety of different behavioral games.

Cardiomyopathy can be caused by a single mutation in any one of a number of genes, each one resulting in a slightly different variant of the disease.

Sequencing accelerates the analysis of cancer associated alterations in genome sequence such as insertions and deletions, CNVs, inversions, duplications, translocations and gene fusions, as well as single nucleotide variants.

In a study, published in Science, they investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formatioIn a study, published in Science, they investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formatioin Science, they investigated a gene region that contains a particular single nucleotide variant associated with increased risk for developing colorectal and prostate cancers — and found that removing this region caused dramatic resistance to tumor formation.

The investigators found that people who carry a single copy of the KL - VS variant of the KLOTHO gene, roughly 20 percent of the population, have more klotho protein in their blood than non-carriers.

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.

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

Studying a specific type of genetic variation in the DNA sequences of wolves and domestic dogs - called Single Nucleotide Polymorphisms (SNPs)- the scientists identified the transfer of dog gene variants into wolf genomes.

In the first paper, utilizing genomic analysis of nearly 8,500 Icelandic and Dutch participants, the deCODE team identified a novel, tightly - linked pair of single - letter variants (SNPs) near the ASIP (agouti signaling protein) gene on chromosome 20 that greatly increase the likelihood of an individual being prone to freckles and sunburn.

This idea is intuitive: in theory, large - effect variants would be kept at low frequency by natural selection, a pattern that's well established for mutations that cause rare single - gene disorders.

Anna Vorobyeva is characterizing human autism - associated single nucleotide variants (SNVs) in genes encoding proteins that regulate global protein synthesis.

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.

First, Dr. Shendure described some interesting experiments under way in his lab to elucidate the function of non-coding regulatory variants — specifically, single nucleotide changes in the core promoter that alter gene transcription.

Carrier testing can be ordered in various ways, including targeted single gene disease testing, panel testing of multiple genetic diseases, or less commonly through a broad genomic test looking for genetic variants throughout the genome or exome.

Finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits in isolated databases.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

To explore the possibility of common genetic pathways within the respective pathophysiologies, nine ADHD candidate single nucleotide polymorphisms (SNPs) in seven genes were tested for association with PD in 5333 cases and 12,019 healthy controls: one variant, respectively, in the genes coding for synaptosomal - associated protein 25 k (SNAP25), the dopamine (DA) transporter (SLC6A3; DAT1), DA receptor D4 (DRD4), serotonin receptor 1B (HTR1B), tryptophan hydroxylase 2 (TPH2), the norepinephrine transporter SLC6A2 and three SNPs in cadherin 13 (CDH13).

Might mating between an ancient human and a Neanderthal - perhaps occurring in only a single instance - have introduced a gene variant into the human population that enhanced human brain function?

Genome - wide association studies use «genechip» technology to identify genetic variants (single gene polymorphisms or «SNPs») that could explain differences in health between individuals.

[PMID 26175754] DNA methylation and single nucleotide variants in the brain - derived neurotrophic factor (BDNF) and oxytocin receptor (OXTR) genes are associated with anxiety / depression in older women

Methods.: Dogs of various breeds, affected or unaffected with primary glaucoma, were genotyped for the Gly661Arg variant of ADAMTS10, as well as 7 other nonsynonymous single nucleotide polymorphisms (SNPs) in other genes in the beagle POAG locus that segregate with disease.