Sentences with phrase «gene mutation in»

Dr. Mellersh performed the initial research (1,2) that provided information vital to the discovery of the Cord 1 gene mutation in English Springer Spaniels and the subsequent development of the test by Dr. Gary Johnson of the University of Missouri.

This is only accurate if the gene mutation in question is recessive.

The Cataract Conundrum focuses on the relationship between cataracts and the HSF4 gene mutation in Aussies.

In fact, there's a test available now for a specific gene mutation in Maine Coones and ragdolls.

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.

The recent identification of the responsible gene mutation in dogs will help scientists better understand the related problem in humans.

If there is a strong family history of breast cancer or a known breast cancer gene mutation in the family, a man might consider having genetic testing to see if he has a mutation that increases his risk for male breast cancer.

Among other accomplishments, this milestone - based program made possible the development and clinical testing of antisense therapy against a common gene mutation in ALS, the first application of antisense therapy to any neurologic disease.

Scientists achieve first safe repair of single - gene mutation in human embryos Scientists have, for the first time, corrected a disease - causing mutation in early stage human embryos with gene... Read more

Their next step was to repair the HBB gene mutation in the stem cells.

The Kleefstra syndrome is a rare disease with intellectual disability, autism spectrum disorders and other developmental defects caused by EHMT1 gene mutation in humans.

Familial acromegaly due to aryl hydrocarbon receptor - interacting protein (AIP) gene mutation in a Turkish cohort [published online June 7, 2013]

It is now known as the most common gene mutation in all cancers.

It says BSE is probably a new prion disease which originated in the 1970s as a consequence of a gene mutation in a cow or other animal.

The progression from gene mutation in the renal cells to the development of a tumor took eight to twelve months.

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.

The paper was a landmark, demonstrating «that a single gene mutation in the mouse could extend life span,» says gerontologist Richard Miller of the University of Michigan Geriatrics Center in Ann Arbor.

Due to a gene mutation in Allan - Herndon - Dudley patients, there was not enough of the biomolecule in the barrier to do the job.

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.

She and her colleagues sequenced genomic DNA in the tumor samples but did not find any new driver gene mutations in the metastatic samples compared to the primary tumor samples, said McDonald, who completed clinical training under Iacobuzio - Donahue at Johns Hopkins.

For the first time, scientists have confirmed the long - standing hypothesis that as people age, they accumulate gene mutations in their mitochondria — cells» energy source.

«Harnessing the power of genomic sequencing augments diagnosis and treatment of lymphoid cancer: New assay may allow screening for «actionable» gene mutations in routinely acquired archival biopsies, reports The Journal of Molecular Diagnostics.»

Mice with ASD gene mutations in only their sensory neurons exhibited heightened sensitivity to touch stimuli and were unable to discriminate between textures.

They tested these drugs one at a time for lethal interaction with 112 different tumor - suppressor gene mutations in human cancer cells growing in the lab.

«We know very little about how gene mutations in tumor cells can change how a tumor might respond or not to certain chemotherapy drugs.

«Scientists edit gene mutations in inherited form of anemia.»

It's now known that single gene mutations in other organisms can lengthen life span.

A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics.

«Study of gene mutations in aplastic anemia may help optimize treament.»

They also hold the promise of correcting gene mutations in patients, whether in blood cells, muscle cells, or tumor cells.

Forde said the number of gene mutations in the tumor correlated closely with response to treatment and was a potential predictive marker for future studies.

In order to better understand biological functions of ADAR in vivo, the laboratory has analyzed the effects of ADAR1 gene mutations in mouse models.

In 1989, Vogelstein's identification of p53 gene mutations in colon cancer began a tide of research linking alterations in the gene to other cancers.

Over the past few decades it has become increasingly clear that epigenetic changes - heritable changes in the cell that do not result from DNA sequence alteration - may be just as important as gene mutations in cancer development.

Meanwhile, in Duesberg's view, the mutation theory was further undermined by studies showing that many known carcinogens did not cause gene mutations in the first place.

A new study conducted by an international team of scientists traces the gene mutations in 11 children who have what some people call «Struwwelpeter syndrome,» after the bushy - haired character «Shockheaded Peter» from the 19th - century German children's book «Struwwelpeter.»

Histone modifier gene mutations in peripheral T - cell lymphoma, not otherwise specified.

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.

Cancer Center scientists develop a conversion test that is nearly 100 percent effective in unmasking hidden gene mutations in patients with a family history of colon cancer.

The Czech Centre for Phenogenomics (CCP), through its membership in INFRAFRONTIER and IMPC, is a partner in a collective global network that aims to comprehensively and systematically analyze the effect of loss of function gene mutations in mice.

By identifying and treating gene mutations in dogs, his research moves us closer to gene therapy that could one day be used to manage and prevent glaucoma in humans.

Translocations and copy number changes (CNAs) had a preponderant contribution over gene mutations in defining the genotype and prognosis of each case.

Future studies should focus on understanding the basis of these similarities and differences as a means of deciphering the consequences of spliceosome gene mutations in MDS.

Nonetheless, inherited gene mutations in your gene sequence certainly may predispose you towards developing certain health issues.

NGS technology enables testing for multiple cancer gene mutations in multiple samples simultaneously.

Not exact matches

According to the National Center for Advancing Translational Sciences, «Mutations of at least six different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner.»

About one in 500 to one in 1,000 individuals will carry a mutation or a gene change in one or another of these genes.

At last year's Brainstorm Health conference in San Diego, Bergh found himself sitting at dinner with Othman Laraki, the cofounder and CEO of Color Genomics — a company that extracts the DNA from a customer's submitted saliva sample and then looks for a set number of gene mutations known to be associated with increased risk for developing certain hereditary cancers or heart conditions (depending on the test).

Luxturna is the first of a crop of treatments that target diseases caused by mutations in specific genes, and thus is referred to by many as the first gene therapy in the U.S.

Scientists have figured out the specific gene mutation responsible for red hair — and why it's more common in beards than on heads.