Sentences with phrase «show gene mutations»

«There are some patients with retinal disease who don't show gene mutations that we know are responsible for disease,» he said.

Not exact matches

Researchers said clinical evidence shows that up to 35 % of children with food allergies have atopic dermatitis, much of which is explained by at least three different gene mutations that reduce the skin barrier.

The new study shows that in AML, every possible combination of homozygous and heterozygous mutation occurs for the two gene mutations under study.

Current research shows that so - called «orphan genes» may appear as if by magic as a result of mutations in segments of DNA that previously had no function.

A genetic comparison with other Drosophila species showed that Drosophila sechellia carries a mutation in a gene called Catsup.

Previous studies have shown that inherited mutations in a gene (called TMLHE) that is required for carnitine biosynthesis are strongly associated with risk for development of autism - spectrum disorders, but the basis for that association has been unclear — until now.

Nathan O. Stitziel, MD, PhD, and his colleagues have shown that mutations in the NPC1L1 gene may protect against high LDL cholesterol and heart attack.

As Saaïd Safieddine, CNRS Director of Research at the Institut Pasteur and co-senior author of the study with Prof. Christine Petit (head of the Genetics & physiology hearing unit at the Institut Pasteur), explains, «we have just shown that it is possible to partially correct a specific form of hereditary hearing loss accompanied by balance problems using local gene therapy performed after the embryogenesis of the ear, which is primarily affected by the mutation responsible for the disorder.

The results show — for the first time, Briggs thinks — that the bacterial genomes change with depth: the micro-organisms at 554 metres carry more mutations in genes that code for energy - related processes like cell division and biosynthesis of amino acids than are seen in their shallower counterparts.

A new multi-institutional study by Japanese researchers shows a potential rare gene mutation that could act as a predictor for two neurodevelopmental disorders, schizophrenia and autism.

First Farmers (Middle East and Europe 3,000 - 14,000 years ago) Analyses of hundreds of genomes show how early Middle Eastern farmers spread to Europe, mixed with hunter - gatherers and adapted to agricultural diets, including through a lactase gene mutation that allowed people to drink milk after childhood.

Previous studies have shown than those of African descent do not usually carry a mutation to the filaggrin gene (FLG) that has been associated with the risk of onset and persistence of AD in those of European and Asian ancestry.

Working with colleagues at St. Vincent's Hospital in Sydney, Martin identified two individuals who had the characteristics of hereditary nonpolyposis colorectal cancer, which is usually caused by a mutation that inactivates one of a person's two copies of the tumor suppressor gene MLH1, but who showed no signs of mutation.

PARP inhibitors have shown efficacy for a small group of patients with breast cancer with inherited mutations in BRCA genes, but have failed in the more aggressive triple - negative disease.

This study showed the two subtypes have different genetic origins and involve a dramatically different number of chromosomal rearrangements, mutations and other gene variations.

In 1926, Timoféef - Ressovsky, a Russian geneticist, collaborated with American geneticist Hermann Muller and showed that exposure to X-rays could induce mutations in genes.

Mineral deposits and bone formation around toe joints of mouse with mutation in the ank gene (mutant foot shown on right, normal skeleton on left).

«Our findings show that the gene mutation that causes Werner syndrome results in the disorganization of heterochromatin, and that this disruption of normal DNA packaging is a key driver of aging,» says Juan Carlos Izpisua Belmonte, a senior author on the paper.

In their experiments, the scientists showed that mutations in these genes shift the G proteins to a permanent «on» or active status, which results in over-activation the Yes - associated protein (YAP).

Marathon running might be in some people's genes, according to a new study, which shows that a genetic mutation that boosts muscle endurance has spread widely in some human populations.

Duke Medicine researchers have shown how gene mutations may cause common forms of cartilage tumors.

Genetic analysis showed they had mutations in the prion gene PrP, suggesting they lacked this protection.

Surprisingly, the animals with ASD gene mutations only in peripheral sensory neurons showed heightened anxiety and interacted less with other mice.

Researchers analyzed the genomes of 16 related orange and white tigers in captivity, fully mapping those of the three parent tigers to show that a mutation in one pigment gene called SLC45A2 is at play — the very same gene that drives lighter coloring in people of European ancestry, chickens, and some mice.

Animals with naturally - occurring mutations in the gene show dramatic «double muscling.»

Interestingly, this study shows that altered dopamine levels can modify gene activity through epigenetic mechanisms despite the absence of genetic mutations of the DNA.»

Results from a statistical analysis shows a cluster of SNPs — single nucleotide polymorphisms — in one section of a single gene, indicating the location of a mutation likely linked to autism.

However, most mutations that have been shown to cause cancer are located outside of genes.

The team also showed that they could recover muscle growth and function in mouse models of muscular dystrophy, a disease with a known gene mutation.

Therefore, we sequenced the whole exomes of 98 HCCs from two hospitals in Taiwan and found that 78 % showed the distinctive mutational signature of AA exposure, accounting for most of the nonsilent mutations in known cancer driver genes.

Where mutations occur in two important cancer genes can affect a woman's risk of breast or ovarian cancer, a study of thousands of women shows.

And although a few studies had shown a link between birthwort and either upper urinary tract cancer or kidney disease, they had only traced the mechanism as far as mutations on one gene: P53, a gene commonly associated with cancer.

«However, we were able to show for the first time that changes in this gene primarily cause Dowling - Degos disease and around half of the mutation carriers develop acne inversa,» emphasizes Damian Ralser, who is currently working on his doctorate at the Institute of Human Genetics.

«This is the first study to show the actual cell behaviors caused by mutations in genes causally linked to polycystic kidney disease, an important new step in the path towards treatment,» said Dr. Robert L. Bacallao, associate professor of medicine at the IU School of Medicine in Indianapolis.

Patients with metastatic colorectal cancer (mCRC) that are mutation - free in the KRAS, NRAS, BRAF and PIK3CA genes showed significant benefit from continuing anti-epidermal growth factor receptor (EGFR) therapy beyond progression following first - line chemotherapy and an anti-EGFR monoclonal antibody, according to study results (1) presented today at the ESMO 17th World Congress on Gastrointestinal Cancer in Barcelona, Spain.

Previous studies had shown that inherited mutations to the gene that codes for PINK1 can stop a person from making working versions of the protein.

For example, the widespread but not universal ability to digest the milk sugar lactose in adulthood (lactose tolerance) has recently been shown to arise from any of several different mutations in and near the lactase gene.

Longo also knew of research by molecular biologist John Kopchick at Ohio University, which showed that mice with a mutation in their growth hormone receptor gene lived 40 percent longer than normal mice — the equivalent of an average American living to age 110.

«The bad news about our finding is that it shows that resistance can arise through single mutations in one gene and pop up anywhere, at any time,» Dr. Fidock says.

Responsible for this ability is a mutation in the DMRT3 gene, which was recently shown by a study with over 4,000 horses from different breeds.

Surprisingly, they found that although the patterns of gene expression — as shown by the RNA sequencing — differed between the hepatocellular carcinomas and the liver cancers with biliary phenotype and depended on the histological type, the overall pattern of mutations in the cells was actually similar between the tumors — of either type — that had emerged in patients who had had infections with either hepatitis C or B, and were different in patients without such infections.

In addition to the loss of these genes, the V. scurruloideum mitogenome shows other signs of degenerative evolution, such as miniaturization and an accelerated mutation rate.

It is known that the genes that accumulate the most mutations are linked to the tumor type, and we found this too, however we showed that the mutational spectrum of a tumor is determined by breed type,» says Dr. Ingegerd Elvers, a researcher with Professor Kerstin Lindblad - Toh at both Uppsala University and Broad Institute.

Four years ago, Farooqi's group discovered that a separate mutation in the gene for melanocortin - 4 receptor shows up in 1 percent of obese people and 5 to 6 percent of severely obese children.

Specifically, data from the Cancer Genome Atlas showed signatures of APOBEC3 - mediated mutations in the PIK3CA gene of about 40 percent of HPV - positive head and neck cancers, but only about 10 percent of HPV - negative head and neck cancers.

This study may provide insight for treatments that would be effective in slowing down or postponing the death of neurons for people who carry the HD gene mutation, but who do not yet show symptoms of the disease.

«We were able to show that a significant number of these adenomas carry a mutation in a gene that is involved in controlling cell proliferation and differentiation,» Calebiro further explained.

«We were able to show that a hot - spot mutation in the EZH1 gene is the second most common genetic defect in autonomous adenomas,» Davide Calebiro puts the result of their recently published work in a nutshell.

She'd like to see more molecular evidence from white grapes worldwide, showing the same mutation in the same gene, before she's completely convinced.

As a controversial study of the H5N1 avian influenza virus published online today in Science shows, researchers are keenly interested in how mutations in the virus» genes might enable it to become transmissible in humans.