Sentences with phrase «mutations in specific genes»

Familial cancer, also known as hereditary cancer is a condition caused by mutations in specific genes that is passed from parent to child.

About 5 - 10 % of all cancers are inherited, meaning that mutations in specific genes are passed from one blood relative to another.

The Yale - led study performed whole exome sequencing ¬ — a technique for sequencing all the expressed genes in a genome ¬ — on TNBC tumors to identify mutations in specific genes or pathways that may indicate response or resistance to the standard of care, which is anthracycline / taxane (ACT) chemotherapy.

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.

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

By also examining this genetic region in two other families with similar disorders, the researchers were able to pinpoint a mutation in a specific gene, NT5E, which is involved in breaking down calcification in the arteries.

«If a patient has a mutation in a specific gene, it would be a way of giving them a normal copy to try to correct that gene.

Many idiopathic epileptics have inherited epilepsy: epilepsy caused by a mutation in a specific gene that they inherited from their parents.

Not exact matches

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

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.

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.

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.

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.

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.

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

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 itselIn 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 itselin PA formation: by fusion of the gene with nearby gene KIAA1549 (K: B fusion) or by point mutations of the BRAF gene itself.

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.

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.

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

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.

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.

It has been shown previously that in Escherichia coli the mfd (mutation frequency decline) gene is necessary for strand - specific repair.

When they screened the KE family to see if some carried a defect in this gene, all affected members turned out to share a specific mutation that apparently rendered FOXP2 inactive, the group reports in the 4 October issue of Nature.

And while scientists have had some success in switching off genes by inserting or deleting random sequences, they have not yet been able to use CRISPR / Cas9 to paste in (or «knock in») specific new sequences to correct mutations in T cells.

But the idea fell out of fashion as researchers began to discover that mutations in specific oncogenes and tumor - suppressor genes could set cancer in motion.

Since our collection of cell lines is completely genetically annotated — which means that mutations and expression changes in each line's genes have been documented — we should be able to identify in advance patients who will benefit from specific combinations.

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.»

«Mutations in epilepsy tend to affect specific areas of the gene, whereas mutations associated with intellectual disability are more often distributed throughout the entMutations in epilepsy tend to affect specific areas of the gene, whereas mutations associated with intellectual disability are more often distributed throughout the entmutations associated with intellectual disability are more often distributed throughout the entire gene.

She found, for example, that by using a technique called the polymerase chain reaction to amplify genes, she could detect mutations or rearrangements in cancer - specific genes in irradiated tissue that had turned cancerous.

Gene editing using CRISPR / Cas9, also can introduce mutations into specific organs or tissues in postnatal mice.

Thus, neural derivatives of disease - specific human pluripotent stem cells constitute a relevant biological resource for exploring the impact of adult - onset HD mutations of the HTT gene on the division of neural progenitors, with potential applications in HD drug discovery targeting HTT - dynein - p150Glued complex interactions.

«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.

However, researchers have been frustrated by the lack of methods to target mutations to specific genes in the zebrafish.

Chen, also an expert in the processes by which genes are turned on and off, has pioneered cutting - edge organoid systems that recreate prostate tumors and will allow the team to much more easily test the activity of various drugs against tumors with specific mutations.

Monitoring parasite populations for a specific genetic background — in this case, a fixed set of four well - defined mutations in the fd, arps10, mdr2, and crt genes — could allow researchers to assess the likelihood of new resistance - causing mutations emerging in different locations, helping to target high - risk regions even before resistant parasites take hold.