Sentences with phrase «specific gene mutation»

Scientific discovery says obesity in Labrador Retrievers may be caused to a breed - specific gene mutation.

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

A woman with a strong family history of ovarian cancer who tests negative for a specific gene mutation is still at a higher risk for ovarian cancer.

My lab performs genetic testing when a physician needs to know whether a child carries a specific gene mutation (change in DNA) that causes disease.

For patients, this means that rather than thinking about the right drug for a certain disease, doctors will think about the right drug to treat the patient's specific gene mutation.

Our study sought to use a new way of imaging the lung to understand how well the drug is working in patients with a specific gene mutation known as G551D - CFTR.»

Their tumors also need to have a specific gene mutation that leads to the repair of cancerous cells.

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

The quantity of ctDNA, as well as the emergence of specific gene mutations, could be used in the future to steer therapy in a more precise manner.

Although specific gene mutations have been identified in humans that can cause CCMs to form, the size and number varies widely among patients with the same mutations.

New insights into specific gene mutations that arise in this often deadly form of brain cancer have pointed to the potential of gene therapy, but it's very difficult to effectively deliver toxic or missing genes to cancer cells in the brain.

People living in the Atacama desert of Chile evolved specific gene mutations over the past 7000 years that make them better at detoxifying the heavy metal

• People with paragangliomas and those diagnosed with metastatic tumors should be tested for specific gene mutations associated with those conditions;

«Originally, we wanted to establish a disease model for FOP that might help us understand how specific gene mutations affect bone formation,» said first author Yohei Hayashi, PhD, a former postdoctoral scholar in Yamanaka's laboratory.

«Originally, we wanted to establish a disease model for FOP that might help us understand how specific gene mutations affect bone formation,» said first author Yohei Hayashi, PhD, a former postdoctoral scholar with Yamanaka's laboratory.

The researchers hoped to create a cellular model to parse the effects of specific gene mutations, according to a press release, but in the process they discovered that skin cells from FOP patients were much more readily converted into iPSCs than cells from healthy individuals.

Our researchers have made key discoveries of the specific gene mutations and proteins involved in both syndromic and non-syndromic congenital sideroblastic anemias, and we have an open research protocol that is helping us to reach our ultimate goal of understanding the genetic basis of all types of CSAs.

National Cancer Institute and ECOG - ACRIN announce the July 2015 opening of the NCI - MATCH / EAY131 trial, a multi-arm phase II precision medicine study that seeks to determine whether targeted therapies for people whose tumors have specific gene mutations will be effective regardless of cancer type.

Her OB - GYN tested her for two specific gene mutations after the plaintiff notified her physician of a family history of cancer.

Not exact matches

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.

Psuedogenes are remnants of genes that once served a purpose in our genome that they no longer fulfil, because of mutations that have rendered the genes nonfunctional, i.e., they no longer lead to the production of proteins (long chains of amino acids) that once contributed to specific characteristics in ancient ancestors.

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.

It has been estimated that 5 % to 10 % of infants who die from SIDS have novel mutations in the cardiac sodium or potassium channel genes that result in long QT syndrome as well as in other genes that regulate channel function.44 A recent report described important new molecular and functional evidence that implicates specific SCN5A (sodium channel gene) β subunits in SIDS pathogenesis.47 The identification of polymorphisms in genes pertinent to the embryologic origin of the autonomic nervous system in SIDS cases also lends support to the hypothesis that a genetic predisposition contributes to the etiology of SIDS.

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.

Scientists had been searching in vain for such a gene since 1994 when Rockefeller University scientist Jeffery Friedman found that lab mice with a specific genetic mutation fail to produce leptin and as a result have uncontrollable appetites, and become huge.

«When most people think about cancer genetics, they think about single key mutations that foster tumor formation — very specific things like the BRCA genes,» said Joe R. Delaney, PhD, a fellow in the Clinical Translation program at UC San Diego Moores Cancer Center and lead author of the paper published February 15 in Nature Communications.

Concurrent with reassortment of genes into new sets, a specific gene's mutation rate can be rapid, and thus the possibilities for dangerous new viral adaptations are constant.

People with specific mutations in the CARD14 gene have a high probability of developing psoriasis.

For example, changes in certain genes could indicate that his cancer was more likely to respond to a particular drug, while other mutations might predict little benefit from a specific therapy.

Anne Goriely of the University of Oxford and her colleagues took tumour cells from men with benign testicular tumours and looked for specific mutations in the FGFR3 and HRAS genes.

The new test uses a highly sensitive gene mutation detection method that is based on the partitioning of DNA into droplets to detect specific circulating tumor DNA mutations and RNA variants in whole blood.

They discovered that those with the disorder had mutations on a specific gene, called GPR54, which is known to produce a receptor in cell membranes.

This time, it's a specific mutation in the EPSPS gene that guards the plant against the effects of glyphosate.

Functional analyses indicate that MFSD12 encodes a lysosomal protein that affects melanogenesis in zebrafish and mice, and that mutations in melanocyte - specific regulatory regions near DDB1 / TMEM138 correlate with expression of ultraviolet response genes under selection in Eurasians.

We report here 13 mutations in the fused in sarcoma / translated in liposarcoma (FUS / TLS) gene on chromosome 16 that were specific for familial ALS.

His specific mutation subtly affects the slicing of the gene and doesn't affect the amino acid sequence that synthesizes the ZAP70 protein.

Approximately 80 percent of DIPG tumors have a specific mutation in a histone gene.

Certain mutations might cause severe retardation, for instance, pointing to specific places to look for a link between genes and intelligence.

In fact, there are two specific mechanisms for activation of BRAF implicated in PA formation: by fusion of the gene with nearby gene KIAA1549 (K: B fusion) or by point mutations of the BRAF gene itself.

Luxturna is the first gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene.

Tsigelny added: «The clinical treatments that do not take into consideration the specific mutations in genes, but rather treat all mutations within a specific gene such as EGFR as the same, are a «hit - or - miss» game because they are based solely on observational data on how other patients previously have reacted to drug therapies.»

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.

For example, drugs that target a specific BRAF gene mutation commonly found in melanoma shrink tumors in about half of patients with the mutation.

The team found that people with specific mutations in the POT1 gene were extremely likely to develop melanoma.

The specific mutations that the researchers observed are «dominant negative» mutations, meaning, when present on even one copy of P53, they are able to compromise the function of the normal protein, whose components are made from both gene copies.

They found that two specific genes, DLX1 and DLX2, regulate GABA synthesis during brain development, and that mutations to the genes resulted in abnormal brain maturation.

About half of melanoma patients harbor an identical tumor - specific mutation in the BRAF gene, which encodes a protein kinase that helps drive cell growth.

Mutations in SRY have previously been found that impair the protein's ability to attach to DNA and activate specific genes involved in sex determination.

The molecular analysis of the null mutations (totally non-functioning) of these genes allowed it to be observed that DNA - RNA hybrids accumulated (detected via a specific anti-hybrid antibody) and increased the genetic instability that they caused.

Using biopsies of the patients» tumors collected before the start of treatment and at the time patients developed resistance, the researchers performed large - scale genomic analyses to search for mutations specific to the cancer cells in all of each patient's 20,000 genes.