Sentences with phrase «factor gene mutation»

The connection was traced through a growth - factor gene mutation not seen in larger dogs.

Not exact matches

A total of 150 women with a history of two or more recurrent miscarriages and 20 fertile control women with no history of pregnancy losses had buccal swabs taken for DNA analyses of 10 gene mutations [factor V G1691A, factor V H1299R (R2), factor V Y1702C, factor II prothrombin G20210A, factor XIII V34L, beta - fibrinogen -455 G > A, PAI - 1 4G / 5G, HPA1 a / b (L33P), MTHFR C677T, MTHFR A1298C].

Because of either a genetic mutation or environmental factors that affect how the gene directs the protein's development, some people's oxytocin receptors may be folded up in ways that prevent them from binding well to the hormone.

Disease - causing viruses engage their hosts in ongoing arms races: positive selection for antiviral genes increases host fitness and survival, and viruses in turn select for mutations that counteract the antiviral host factors.

Page and his colleagues, who use animal models to understand how autism risk factors impact the developing brain and to identify potential treatments for the condition, have found that animals with mutations in the autism risk gene phosphatase and tensin homolog (Pten) mimic aspects of autism, including increased brain size, social deficits and increased repetitive behavior.

Between 10 and 30 percent of NSCLC cases are driven by mutations in the epidermal growth factor receptor (EGFR) gene.

Unlike other autoimmune disorders with associated risk factors, APECED is clearly caused by a mutation in a single gene, based on analyses of affected families.

The good news is, unless you have one of the very rare genetic mutations that undeniably cause obesity, your genes are just one factor in your weight profile.

Inherited mutations of the tumour suppressor gene CDKN2A are the strongest known risk factors for familial melanoma and mutations in this gene also increase the risk of other cancers.

Mutation of this gene, which leads to decreased GCase activity in the brain, has been found to be a genetic risk factor for Parkinson's, although the majority of patients with Parkinson's do not carry mutations in the Gaucher gene.

When he delved into the genomes of those with a milder disease, he often saw not just a mutation in the affected clotting - factor gene, but also a mutation in another gene — the first causing haemophilia, the tendency to bleed, and the second causing thrombophilia, the tendency to clot.

Hockemeyer says that it's unlikely to be another mutation, but rather an epigenetic change that affects expression of the telomerase gene, or a change in the expression of a transcription factor or other regulatory proteins that binds to the promoter upstream of the telomerase gene.

Spalax naturally have a variant in the p53 gene (a transcription factor and known tumor suppressor), which is identical to a cancer - related mutation in humans, Band said.

Disease processes often begin with mutations in the transcription factor, or in the DNA they bind to inside the nucleus of cells to regulate the complex interplay of genes needed for a healthy functioning body.

Among patients with advanced non-small cell lung cancer without a mutation of a certain gene (EGFR), conventional chemotherapy, compared with treatment using epidermal growth factor receptor tyrosine kinase inhibitors, was associated with improvement in survival without progression of the cancer, but not with overall survival, according to a study in the April 9 issue of JAMA.

Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are the preferred treatment option for patients with advanced non-small cell lung cancer (NSCLC) who have mutations in the EGFR gene.

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.

Researchers at the San Diego Supercomputer Center (SDSC) and the Moores Cancer Center at the University of California, San Diego, have described for the first time the molecular mechanism of cancer development caused by well - known «resistance» mutations in the gene called epidermal growth factor receptor (EGFR).

The researchers also identified specific mutations in genes important in adaptation to factors such as climate and pathogens, including those involved in morphology, behaviour and innate immunity.

The new study — published October 18, 2016 in the journal Molecular Psychiatry — combined genetic analysis of more than 9,000 human psychiatric patients with brain imaging, electrophysiology, and pharmacological experiments in mutant mice to suggest that mutations in the gene DIXDC1 may act as a general risk factor for psychiatric disease by interfering with the way the brain regulates connections between neurons.

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.

The advent of therapies directed at tumors with mutations in epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), and B - Raf proto - oncogene (BRAF) genes over the past decade have dramatically changed outcomes, he says.

By combining those factors, Phevor identifies an undiagnosed disease or the most likely candidate gene mutation for causing a disease.

In addition, molecular studies of human colorectal cancer samples recently uncovered multiple mutations in the TRPV1 gene, though Raz noted that currently there is no direct evidence that TRPV1 deficiency is a risk factor for colorectal cancer in humans.

Mutations in the BRCA1 gene are one of the most common risk factors for breast and ovarian cancers.

Specifically, this mutation, which likely occurred very early in evolution after the separation of our group from that of sea anemones, affected a gene of the Fgfr (fibroblast growth factor receptors) family.

Professor Michael Lisanti, from The University of Manchester — part of Manchester Cancer Research Centre, said: «We know that high breast density can greatly increase a woman's breast cancer risk as well as other factors such as aging, family history and presence of mutations in genes such as BRCA 1 and BRCA 2.

Genetic factors are clearly indicated as evidenced by dominant mutations in three different genes have been identified that account for the small number of cases of familial, early - onset AD.

Alice Shaw recalls a signal moment in 2004 — just as she was finishing her oncology fellowship at MIT — when scientists discovered that mutations in a gene for epidermal growth factor receptor (EGFR) were the culprits in about 10 to 15 percent of lung cancer patients.

Students in the UBC program engage in a wide range of research: molecular mechanisms underlying cell proliferation in cancer or cell death in stroke; relating gene mutations to disease mechanisms; the social factors that determine access to health care for women living on the street.

A mutation in the gene encoding fibroblast growth factor receptor 3 (FGFR3) has been associated with two types of skeletal dysplasia, thanatophoric dysplasia (TD), a skeletal dysplasia that cause serious respiratory problems at birth and is often lethal, and achondroplasia (ACH), which causes stunted growth and other complications throughout life.

Washington State University researchers say environmental factors are having an underappreciated effect on the course of disease and evolution by prompting genetic mutations through epigenetics, a process by which genes are turned on and off independent of an organism's DNA sequence.

Heterozygous missense mutations of the NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor, also known as NELF) gene have been associated with Kallmann syndrome.

PULLMAN, Wash. — Washington State University researchers say environmental factors are having an underappreciated effect on the course of disease and evolution by prompting genetic mutations through epigenetics, a process by which genes are turned on and off independent of an organism's DNA sequence.

An Open Label, Phase II Study of Neratinib in Patients with Solid Tumors with Somatic Human Epidermal Growth Factor Receptor (EGFR, HER2, HER3) Mutations or EGFR Gene Amplification

Are any risk factors (e.g., gene mutations, environmental exposures) common among people who develop a certain kind of cancer?

Recent evidence has suggested that epigenetic factors may regulate genes associated with diabetic complications, but without permanently altering the underlying DNA itself, as would happen in a genetic mutation.

The researchers, mathematician Cristian Tomasetti and cancer geneticist Bert Vogelstein, both of Johns Hopkins University, set out to determine what proportion of cancer mutations are due to unpredictable DNA - copying errors — as opposed to the two other main contributors to cancer, inherited genes and environmental factors, such as smoking and obesity.

One such regulatory protein is called complement factor H, and mutations in its gene are associated with AMD.

Working with Nancy Cox, PhD, professor of medicine and human genetics and section chief of genetic medicine at the University of Chicago, Bell discovered mutations in the genes for glucokinase and for three transcription factors that cause an early - onset form of diabetes called maturity - onset diabetes of the young.

A specific codon (34) in U2AF1 harbored missense mutations in multiple AML tumors, suggesting a gain - of - function for the splicing factor encoded by that gene.

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.

Recent genetic research in humans has implicated mutations in the gene for Tet2 as a risk factor for many different diseases of aging, including cancer, cardiovascular disease, and stroke.

Mutations in the beta - catenin gene, or flaws in the factors that degrade it, have long been linked to more aggressive disease in various tumor types, including colon, lung and prostate cancer, and melanoma.

The mice in the study had mutations in a gene called KL2 (for c - kit ligand 2) in their Sertoli cells, cells in the testis that aid in sperm cell development by providing structural support and growth factors.

For example, mutants may be characterized by comparing their transcript profiles to those obtained in other experiments querying the effects on gene expression of many experimental factors including treatments, mutations and pathogen infections.

The American Cancer Society has a page about genetic risk factors for breast cancer, including the BRCA and other gene mutations.

stem cell therapy for ischemic cardiovascular disease; Molecular mechanisms of oxygen homeostasis; Genetic syndromes due to mutations in genes encoding transcription factors

In the multivariate analysis, when the International Prognostic Index was controlled for, the presence of a histone modifier gene mutation was an independent prognostic factor for progression - free survival (P < 0.001)(Table 1).

Other projects focus on studying how mutations found in the genes for skeletogenic transcription factors cause skeletal and other defects in human patients and finding ways to overcome the negative effects of these mutations in patients.