Sentences with phrase «identified gene variants»

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

No association was found between the genetic risk score and lifestyle factors and testing confirmed that only the abdominal adiposity effects of the identified gene variants were associated with cardiometabolic risk.

To identify gene variants associated with musical aptitude, Irma Järvelä at the University of Helsinki, Finland, and colleagues analysed the genomes of 767 people assessed for their ability to detect small differences between the pitch and duration of a sound, and musical pattern.

Their landmark findings will open the door to identify gene variants controlling skin microbiota and to define their link to various diseases such as skin inflammatory disorders.

Researchers at Karolinska Institutet, and the Sahlgrenska Academy at Gothenburg University in Sweden have identified a gene variant linked to psychotic symptoms and cognitive impairment in people with bipolar disorder.

Medical researchers have used DNA sequencing to identify a gene variant responsible for causing lupus in a young patient.

«And from there we can identify gene variants that may allow Joshua trees to survive rising global temperatures.»

Researchers have identified a gene variant which explains why some patients with Parkinson's Disease respond well to drug treatment and other do not.

«Identifying gene variants that are general risk factors for neurological and psychiatric disease is important, but understanding exactly which cell types in the developing brain are compromised and what the consequences are is still extremely challenging,» Pollen added.

«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.

«Identifying gene variants that boost risk is only the first step of unraveling a disease,» explained lead author Dr. Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, professor of neurology at the David Geffen School of Medicine at UCLA and professor of psychiatry at the Semel Institute for Neuroscience and Human Behavior.

The United Kingdom - based group, led by Julie Williams, Ph.D., Cardiff University School of Medicine, Wales, found the same genes as risk factors and identified a gene variant ABCA7 as an additional gene of interest.

Researchers at the David Geffen School of Medicine at the University of California, Los Angeles, recently reported in the Journal of Lipid Research that they have identified a gene variant that affects FGF19 secretion and thus may affect bile acid metabolism in both sickness and health.

Not exact matches

Genes also play a role in menopause, and two research teams have identified several gene variants associated with advancing or delaying menopause by as much as two years.

However, the gene variants identified thus far explain only about five percent of the familial predisposition.

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.

«Gene variants modifying Huntington's symptom onset may lead to new therapeutic strategies: Genome - wide association analysis identifies sites associated with earlier - or later - than - expected symptom appearance in human patients.»

Genetic tests could one day indicate if patients are predisposed to high levels of TNF — possibly associated with the newly identified receptor gene variant — helping to identify patients that will respond to antibody therapy.

While several studies in the intervening years have investigated whether particular genes were responsible for modifying HD onset, this is the first to employ genome - wide association (GWA) analysis, which scans an individual's whole genome to identify chromosomal regions containing variants that are associated with the disease traits that are being studied.

Researchers identified a variant in the TREX1 gene.

We identify previously uncharacterized genes and variants associated with skin pigmentation in ethnically diverse Africans.

By splicing the scrambled genes into Escherichia coli bacteria and growing the new strains in colonies, he and his colleagues identified variants that glow like GFP.

The study, which has identified more than 200 rare variants inherited by children, determines that genes YWHAZ and DRP2, among others, are new candidates in the research on autism genetic basis.

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

With her expertise in handling large genetic datasets, Dr Knight helped identify the two gene variants associated with improved responses to rasagiline in early Parkinson disease (PD).

The gene variants that have been identified so far contribute only weakly to the risk of contracting the disorder.

One study even identified two genes in which particular variants can slow the onset of AIDS, demonstrating the potential of this approach for understanding why people vary in their susceptibility to infectious diseases.

With this knowledge we can not only improve yield and quality but also improve animal health by identifying pathogenic gene variants and ensuring that they are not passed on to future animals.»

Almost half of the ETV6 variants identified in this study occurred in the region of the gene responsible for binding to DNA.

«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.

GenProfile focuses on the systematic analysis of DNA sequence variation in biomedically relevant genes in order to identify those variants, or combinations of variants (gene profiles), that determine an individual's genetic risk for disease, predict individually different drug response, and ultimately pave the way to a personalized medicine.

«Face shape is in the genes: Genome - wide association study identifies genetic variants that contribute to healthy facial traits.»

In the National Institutes of Health - funded study, researchers at Wake Forest Baptist identified and evaluated six rare gene variants within the beta2 - adrenergic receptor gene, the gene that may influence the response to beta agonist drugs.

Researchers have identified a new host of gene variants that could make people vulnerable to sporadic motor neuron disease, according to a report published in the journal, Scientific Reports.

With their analyses of the genome data, the scientists were also able to identify eight specific gene variants that are strongly linked to altered risk for both diseases.

By focusing on several of these mutations and screening through guide RNA variants with different mismatch combinations, they were able to identify specific guide RNAs that stimulated Cas9 activity towards the mutated gene sequences but left the normal counterpart untouched.

Comparing DNA from 2066 people with Crohn's and 3633 people without it, the team identified two variants of the same gene, called LRRK2, with differing effects.

More importantly, the team confirmed that our genes influence performance on the Eyes Test, and went further to identify genetic variants on chromosome 3 in women that are associated with their ability to «read the mind in the eyes.»

Thus µSCALE empties the contents of a single capillary onto a collector plate, where the DNA of the isolated cell can be sequenced and the gene variant responsible for the protein of interest can be identified.

In addition, they identified two variants in a second immune system gene, IL2RA, which codes for a protein called the IL - 2 receptor.

«It is also possible that these data will reveal that some previously identified disease - associated sequence variants actually fall within a formerly unrecognized primary miRNA gene, thereby raising the possibility that such variants may influence expression of the encoded miRNA,» Mendell said.

Rao and her team hope that pinpointing the importance of this trafficking mechanism in autism spectrum disorders may lead to the development of new drugs for autism that alter endosomal pH. As the use of genomic data becomes increasingly commonplace in the future, the step-wise strategy devised by her team can be used to screen gene variants and identify at - risk patients, she says.

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.

Whole - exome sequencing of 238 African American subjects identified 6 rare missense variants within the EOAD genes, which were observed in AD cases but never among controls.

Abstract: We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early - onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.

They identified a variant in the seed region of MIR204, a micro-RNA gene at chr9q21.12, which segregated with disease.

Candidate gene and genome - wide association studies have identified variants associated with HBV - related disease progression or hepatocellular carcinoma in various populations [46][52].

This is the case at the level of loci (e.g. identifying causal variants underlying genome - wide associations), genes (e.g. understanding not only that mutations in gene X underlie a given phenotype, but also the how and why of it), and variants (e.g. variants of uncertain significance).

The team identified variants in a region near the engrailed homeobox ‐ 1 gene (EN1) that were associated with bone mineral density in the lumbar area of the spine.