Sentences with phrase «gene variants affecting»

We use genetic approaches to identify novel genes and gene variants affecting the development in humans.

Their goal is a database that will help them examine how specific gene variants affect health.

However, the real breakthrough is still to be seen, and now researchers at Karolinska Institutet show in two separate scientific papers that many more gene variants affect how a person responds to medication than previously thought — and thus that today's analytical tools are too coarse.

Not exact matches

The handful of cases that still occur are most likely to affect non-Jews, families carrying mutations other than the distinctly Ashkenazi variants of the Tay - Sachs gene.

The study, which is published in the journal Molecular Psychiatry, describes a possible mechanism for how the gene variant produces clinical symptoms by affecting levels of specific proteins in the brain.

We screened a total of 394 Amish research subjects for the KCNH7 mutation; 84 of these individuals carried at least one copy of the gene variant, and the lifetime incidence of bipolar spectrum disorders among them was 49 percent (41 people were affected with the disease).

But because the gene appears to affect only the cat's color, white tigers are simply genetically healthy variants of Bengal tigers, which, if bred carefully, might still survive well in the wild.

By comparing the genome of these three variants, Di - Poï and Milinkovitch have discovered the gene affected by this mutation.

But the new study has underscored the variability in the copy number variants and genes that can be affected in autistic individuals.

Affected individuals do not have a disease: they only carry 1 copy of a hemoglobin gene variant, and unlike individuals with 2 copies of the variant, they do not experience symptoms.

Gene variants that affect the way our brain works may be the reason, according to a new study.

«These findings suggest that GCLM polymorphisms [gene variants] that affect glutathione production also affect methylmercury retention,» she wrote to me in an e-mail, «and that GSTP1 may play a role in conjugating [chemically joining] methylmercury with glutathione.»

«In all four families there were a total of eight people affected and now the problem is they all have the same gene mutated but one variant,» said Lupski, the corresponding author of the report.

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.

A copy number variant may affect dozens of genes, or it can disrupt or duplicate a single gene.

They then used the model to predict how autism - linked variants in the NHE9 gene would affect the protein's shape and function.

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.

A large - scale genomic study uncovered novel genetic variants and led researchers to an unexpected gene that affects bone density and fracture risk.

With the statistical power of 2,000 samples (half in a discovery set, half in a validation set), they were able to search for both cis - regulatory (variants affecting nearby genes) and trans - regulatory (variants affecting distant genes) relationships.

The variant found in the present study is an unusual type of mutation that appears to affect the way the gene's messenger RNA is processed; the messenger RNA in patients with the mutant TP53 gene appears to lack proper termination and polyadenylation.

MC1R variants affect the expression of melanocortin and melanogenic genes and the association between melanocortin genes and coloration.

The genetic variant may affect CHD risk by reducing the expression of the GLUL gene which is involved in glutamine / glutamic acid metabolism.

Hence, as we gain more detailed knowledge, the pipeline may continuously incorporate new genes and pathogenic variants, identified through postnatal WES investigations in severely affected newborns and children.

An interesting question for the future will be the quest for the potential genetic variants that may regulate imprinting levels — iQTLs, analogously to eQTLs that affect gene expression levels.

Nearly all of the affected children had the HLA - QB * 06:02 gene variant already linked with narcolepsy.

The researchers found that this regular gene flow mutes genetic variants unimportant to speciation — allowing them to identify key genetic areas affected by natural selection.

Their preservation in the zebrafish allows us to visualize in this transparent genetic vertebrate model whether these variants are just neutral or if they disrupt the regulation of one the neighbor genes, possibly revealing the actual gene affected in AMD human patients.

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.

Compounded by the fact that a single variant might affect multiple transcripts / genes, the number of observed human coding variants exceeds 22 million.

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.

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.

Furthermore, three of four affected family members carried a rare variant in the TSHZ3 gene, also associated with AβPP processing.

An individual may still be a carrier of (or affected with) a disease if no variants or only one variant is found in the relevant gene.

What's going on in Angela's genes: People, like the mice in the experiment described above, have gene variants that affect how susceptible or resistant they are to addiction.

It is extremely difficult to demonstrate that such variants are actual mutations affecting genes, as they could simply be random DNA changes that have a neutral effect.

By analyzing genome sequence data from human populations, including 1269 individuals from sub-Saharan Africa, we identify a diverse array of large copy number variants affecting the host invasion receptor genes GYPA and GYPB We find that a nearby association with severe malaria is explained by a complex structural rearrangement involving the loss of GYPB and gain of two GYPB - A hybrid genes, which encode a serologically distinct blood group antigen known as Dantu.

For instance, a researcher interested in cardiovascular disease could access GTEx data to view all the genetic variants in the human genome that affect gene expression in the heart.

Results: Our exome variant analysis revealed coding variants in the NLRP7 gene that were present in affected individuals in two distinct families.

And yet, even after you sequence the exomes of several family members (affected and unaffected) the causal variant or gene remains elusive.

The researchers said their finding could lead to new treatments that might help ease symptoms of menopause, but more research is needed to understand how other rare gene variants could affect hot flashes.

Polymorphic variants of insulin - like growth factor I (IGF - I) receptor and phosphoinositide 3 - kinase genes affect IGF - I plasma levels and human longevity: cues for an evolutionarily conserved mechanism of life span control.

Some researchers think that low dietary folate levels due to reduced vegetable and fruit intake adversely affected our genes giving rise to a genetic variant, which then impairs our ability to metabolize folic acid.

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.

Concurrently a study in Labrador retrievers has identified a mutant variant of ATP7B (Chr22) the Wilson disease copper transporter gene in their affected dogs while COMMD1 does not appear to be involved in affected dogs in this and other breeds.