Sentences with phrase «several gene mutations»

«As examples, scientists could use Organ - Chips to create a living model of a patient with Parkinson's disease, amyotrophic lateral sclerosis or Crohn's disease, a debilitating inflammatory bowel disorder linked to several gene mutations.

Scientists have uncovered several gene mutations that sharply increase the chances of developing autism.

Not exact matches

Now, new research has found several rare genetic mutations on the same gene that definitively connect the two.

There is no single mutation that causes Alzheimer's, says Wild, but we know of several gene variations that increase the risk of the disease.

Their preliminary analysis revealed several mutations known as single nucleotide polymorphisms (SNPs) in the ALR gene, many of which haven't been identified before.

After gene mapping we had several candidate regions to choose but exome sequencing quickly identified the actual mutation.

At the Sanger Institute meeting, several groups reported mutations in a gene called ARID1B in patients with intellectual disability.

Several mutations were found in genes coding the machinery that makes mitochondrial proteins, and so would probably hinder mitochondria's ability to make the chemical fuel called ATP, which is used by normal cells.

Over the last 6 million years, those accumulated mutations have inactivated several genes.

The second was the existence in laboratory mice of a large mutation called an inversion that affects several million nucleotides near the KITLG gene.

This rare condition can be caused by mutations in several genes, one of which is called RPE65.

But over the next five years she isolated one gene, then another, and another, until more than 50 mutations on several genes associated with epidermolysis bullosa had been nailed.

Several years ago, researchers found that 80 percent of patients with uveal melanoma had mutations to GNAQ or GNA11, genes that activate signals in the mitogen - activated protein kinase (MAPK) pathway.

EB results from mutations to any of several genes that encode proteins crucial for anchoring the outer layer of skin, the epidermis, to the tissue below.

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.

Mutations in autophagy genes can cause disease, and the autophagic process is involved in several conditions including cancer and neurological disease.»

The company found several new disease genes, including mutations in one gene, ABCA7, that double the risk of developing Alzheimer's disease in people of European ancestry.

Several long - lived worms carry mutations in a gene involved in a process that appears to use chemical signals to trigger activities inside cells.

Researchers must cross plants with mutations in different copies of the gene several times to obtain a generation of plants in which the gene's function is lost.

The study identified several other potential colitis genes, he added, and this particular one's effect on the barrier cells» energy requirements suggests a new category of mutations with the potential to cause IBD.

In 2006 Pfizer started early human testing on one of these new, targeted drugs called crizotinib (now sold as Xalkori), concentrating on a mutation of a gene called MET, implicated in several cancers, including esophageal and stomach cancer.

If that sounds potentially dangerous, it is: Such genes are often the culprits behind tumor - causing mutations and have been implicated in several neurological 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.

A team of French and American scientists at several institutes pinpointed mutations in the retinal guanylate cyclase (RETGC) gene in eight families in which the disease has struck.

But a comparison of its DNA to that of another human has revealed several mutations in genes involved in bone disorders — and confirmed once and for all that this being is definitely from our world.

Several dozen genes were expressed differently in the superaggressive flies, compared to controls, but flies with mutations in one gene called Cyp6a20 were especially combative.

The scientists sifted through the collection looking for mutant flies with walking impairments and soon zeroed in on several impaired walkers that turned out to have mutations in the same gene.

«We developed a network of collaborators in the United Kingdom, in several other European countries and in Australia to identify 30 other children with mutations in the same genes,» said Michaud.

'' [Type 1 diabetes] is clearly is one of these complex genetic disorders,» involving mutations in several genes acting in concert to predispose someone to the condition, says Hakon Hakonarson, director of The Children's Hospital of Philadelphia's Center for Applied Genomics and lead author of the new study, published this week in the online edition of Nature.

Genome sequencing of six children with autism has revealed mutations in a gene that stops several essential amino acids being depleted.

In the course of this work, he has pioneered several new approaches in the fruit fly that have had important implications for mammalian neurobiology, including: the demonstration that the fruit fly has a sleep - like behavior similar to that of mammals, studies of physiological and behavioral consequences of mutations in a neurotransmitter system affecting one of the brain's principal chemical signals, studies making highly localized genetic alterations in the nervous system to alter behavior, and molecular identification of genes causing naturally occurring variation in behavior.

Among other findings, SWIF (r) identified several adaptive mutations in a set of genes responsible for energy and fat storage.

Chemical controls are costly and potentially harmful to human and environmental health, so protecting crops like wheat with inherent resistance is the smart alternative, but resistance must be genetically complex, combining several genes, to withstand new mutations of the pathogen over time.

Abstract Type 1 ryanodine receptor (RyR1) is preferentially expressed in skeletal muscle, and mutations in the gene have been associated with malignant hyperthermia, a pharmacogenetic disease, and with several congenital myopathies, including central core disease, multiminicore disease, centronuclear myopathy, congenital fibre type disproportion.

Dr. Eng and team create scoring system to facilitate identifying individuals to be referred to PTEN gene testing Researchers have discovered a method for more precise identification of individuals who should undergo testing for genetic mutations of the tumor suppressor gene PTEN, which associates with a variety of conditions including several types of cancers.

By comparing the whole genome sequence of the lab - cultured resistant strain with a sibling strain that had not been exposed to the drug, they were able to identify several mutations of interest in a number of genes.

The researchers found that patients from MODY3 families had one of several different mutations in the gene for hepatocyte nuclear factor 1 alpha (HNF -1-alpha) but healthy subjects had normal copies of the gene.

They identified several causal variations in CCDC115 gene: a homozygous missense mutation, c. 92T > C (p.Leu31Ser) and this one was also compound heterozygous in combination with a heterozygous deletion of CCDC115 (in one family) and a homozygous missense mutation, c. 31G > T (p.Asp11Tyr).

JEB arises from mutations in any of several genes that encode proteins that hold the epidermis to the dermis.

The presence of several mutations in four important genes for the brain's synapses can be associated to Obsessive Compulsive Disorder in humans.

The 2013 study, which was led by David Altshuler (now chief scientific officer at Vertex Pharmaceuticals), had shown that one gene in that region, SLC16A11, harbored several suspicious mutations, and more detailed genetic mapping of the region strengthened the case for focusing on it.

In this study, using whole - genome DNA sequencing (WGS) and confirmation by Sanger sequencing, we observed mutations identified in several genes not previously known to be recurrently altered in SMZL.

the evolution of domesticated animals has been underway for so long that we can now see the evolution of gene variants, that is, genes in which several successive mutations gradually changed the function of the gene.

The research team also found mutations in the PIK3CA gene, which has been well studied in cancer and is already the focus of several clinical trials of targeted therapies.

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.

Two Gene Mutations Linked to Most Common Brain Cancers Scientists at the Johns Hopkins Kimmel Cancer Center and Duke University Medical Center linked mutations in two genes, IDH1 and IDH2, to nearly three - quarters of several of the most common types of brain cancers known asMutations Linked to Most Common Brain Cancers Scientists at the Johns Hopkins Kimmel Cancer Center and Duke University Medical Center linked mutations in two genes, IDH1 and IDH2, to nearly three - quarters of several of the most common types of brain cancers known asmutations in two genes, IDH1 and IDH2, to nearly three - quarters of several of the most common types of brain cancers known as gliomas.

INHERITED AND ACQUIRED Aplastic anaemia can be caused by inherited mutations in about thirty genes (known to date), several of which are involved in preserving the telomeres.

In recent years, reports from several clinical sequencing laboratories have suggested that a large fraction of successfully diagnosed cases have a de novo mutation (present in the patient, absent from both parents) in a dominant disease gene.

Soon several other scientists revealed ADCY3 findings associating positive correlations between severe obesity and mutations in the gene.

Human mutations affecting this subgroup of ADAMTS / ADAMTSL proteins phenocopy all or several aspects of genetic disorders caused by mutations in the fibrillin - 1 gene itself, suggesting a functional relationship.