Sentences with phrase «identified gene mutation»

Researchers have now identified a gene mutation in canine lung cancer that they believe can be targeted with a drug currently FDA approved for human breast cancer.

Researchers have now identified a gene mutation responsible for SAS in Newfoundlands.

A team of researchers has identified a gene mutation responsible for canine subvalvular aortic stenosis (SAS).

Researchers have identified the gene mutation that causes NEwS, and a DNA test is now available that allows breeders to avoid producing affected puppies by never breeding two dogs to each other if they are both carriers of the abnormal gene.

A newly identified gene mutation helps explain a subset of cases of osteogenesis imperfecta (OI), or brittle bone disease, whose origin had until now remained mysterious.

A newly identified gene mutation is one of only a handful of mutations outside the X chromosome to be linked to intellectual disability.

«It's a complex paper and very difficult to interpret in my opinion,» agrees Nicolas Lévy, head of molecular genetics at the Timone Children's Hospital in Marseille, France, who helped lead a group that identified the gene mutation behind progeria in 2003.

He identified gene mutations in breast cancer cells that affect their ability to recognize viruses, including some mutations that would be expected to significantly increase the cells» vulnerability to viruses implicated in breast cancer.

Researchers from Massachusetts General Hospital (MGH) led a large, international research team that has identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems.

Gai and Falk used the high - performance computer cluster at Loyola's Center for Biomedical Informatics to analyze billions of DNA sequences to identify the gene mutation in the child and her parents.

Identifying the gene mutation gives us tremendously greater opportunities.

In a similar case with a 12 - year - old whose exome was sequenced without any family data, Phevor built on the analysis of VAAST to identify a gene mutation causing the illness, another autoimmune syndrome.

Strong family disease history suggests a hereditary contribution and future research will try to identify the gene mutations responsible.

To help biological insights reach patients, Hieter co-founded, in 2014, the Canadian Rare Diseases: Models and Mechanisms National Network, a consortium that connects clinician scientists identifying gene mutations in patients that cause rare diseases to basic scientists analyzing the corresponding genes in model organisms.

In the group's initial scan of the tumor samples, researchers identified gene mutations that would increase RTK / RAS / RAF pathway activity in 62 percent of the samples.

Dr. Steven Friedenberg and the Veterinary Genetics Laboratory at North Carolina State University College of Veterinary Medicine are working to identify the gene mutations responsible for the development of IMHA.

Researchers in the College of Veterinary Medicine are working to identify the gene mutations responsible for the development of Addison's disease in Standard Poodles.

Dr. Katharine Lunn, Dr. Steven Friedenberg, and the Veterinary Genetics Laboratory at North Carolina State University are working to identify the gene mutations responsible for the development of Addison's disease in Standard Poodles.

Addison's Disease in English Cocker Spaniels Dr. Steven Friedenberg and the Veterinary Genetics Laboratory at North Carolina State University College of Veterinary Medicine Center for Comparative Medicine and Translation Research are working to identify the gene mutations responsible for the development of Addison's disease in English Cocker Spaniels.

Immune - Mediated Hemolytic Anemia (IMHA) in English Cocker Spaniels Dr. Steven Friedenberg and the Veterinary Genetics Laboratory at North Carolina State University College of Veterinary Medicine are working to identify the gene mutations responsible for the development of IMHA in English Cocker Spaniels.

Dr. Vicki Meyers - Wallen at Cornell University is working to identify the gene mutation that causes the XX Sex Reversal in the hope of developing a DNA test.

Purpose: To identify the gene mutation that causes PRA in the Old English Sheepdog and develop a screening test to identify carriers and affected PRA dogs.

Not exact matches

It was by experiments of this kind that genes were identified and the process of gene mutation discovered.

If you have a strong family history of breast cancer or other cancers, your doctor may recommend a blood test to help identify specific mutations in BRCA or other genes that are being passed through your family.

The study identified yet another mutation — albeit a rare one — in the SCARB1 gene, also associated with elevated HDL levels, that raised coronary heart disease risk by a whopping 80 percent.

Rodriguez identified a mutation of the gene that compromises the ability of HDL to regulate cholesterol levels.

Jaenisch says that the method that identified the single point mutation in SNCA's enhancer could be used to pinpoint additional pathogenic genes for sporadic PD and sift through the GWAS hits for other diseases, including Alzheimer's disease, cancer, diabetes, and multiple sclerosis.

A less - frequent BRCA1 mutation, called 5382insC, was identified next, followed by 6174delT on a second gene, BRCA2, making for a trio of characteristically Jewish breast - cancer mutations.

GWAS identify regions of the genome that can contain hundreds of genes potentially affected by a mutation.

Researchers at the University of Maryland School of Medicine have identified a mutation in a fat - storage gene that appears to increase the risk for type 2 diabetes and other metabolic disorders, according to a study published online in the New England Journal of Medicine.

Professor Hannes Lohi's research group at the University of Helsinki and Folkhälsan Research Center, Finland, has identified a mutation in CNGB1 gene, causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds.

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

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.

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

The identified mutation in the CNGB1 gene prevents the generation of normal protein in the dog's eyes.

The researchers identified a mutation in a gene in one patient that could increase the risk of colon cancer as an adult.

This study examined the genetic code of affected patients with schizophrenia and their healthy parents to identify newly occurring (sporadic) mutations that disrupted the four influential signaling genes in 31 percent of these patients.

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.

Children, siblings or parents of mutation carriers have a 50 - 50 chance of also having the mutation, which can be identified with a gene test.

«Gene mutations behind lack of a nose identified: Alterations in same gene previously associated with rare form of muscular dystrophy.&raGene mutations behind lack of a nose identified: Alterations in same gene previously associated with rare form of muscular dystrophy.&ragene previously associated with rare form of muscular dystrophy.»

«Mutations responsible for cleft palate and related birth defects identified: Study of Amish and Saudi Arabian families finds mutations in HYAL2 gene that impact developmenMutations responsible for cleft palate and related birth defects identified: Study of Amish and Saudi Arabian families finds mutations in HYAL2 gene that impact developmenmutations in HYAL2 gene that impact development.»

The hope is to identify many, if not all, of the other genes and gene mutations that influence risk.

To confirm that the mutations that we identified in the GTPBP3 gene are responsible for the disease we have inactivated the gene in vitro in healthy cells.

So some researchers have started with clinical mutations that impair key traits, then traced the genes» evolution, an approach that has identified a handful of tantalizing genes.

The researchers identified a broad range of mutations in the IDH gene in cartilage tumors.

BRCA2, BRCA1 and p16 gene mutations were identified in some patients.

They identified previously unknown recurrent loss - of - function mutations that target genes regulating epigenetic pathways — ones that act on how tightly or loosely chromosomes are wound and thus accessible for genes to be expressed.

«Single - gene mutations that lead to atopic dermatitis identified.»

Huntingtin, the single gene mutation responsible for the disease, was identified in 1993.

«This is an exciting study of a very rare bone disorder that not only identified the responsible mutation in half of the patients, but uncovered fundamental information about the role of a cancer - related gene in the metabolic pathways of normal bone,» said study co-senior author Joan Marini, Ph.D., M.D., of NICHD.