Sentences with phrase «mutations in single genes»

AGTC's lead product candidates focus on rare diseases of the eye, caused by mutations in single genes, that significantly affect visual function and currently lack effective medical treatments.

Earlier cases of resistance were largely due to mutations in single genes — trump cards that immediately made for invincible parasites.

Many are known to be caused by mutations in single genes, yet for the vast majority no treatments are available.

This suggested that obesity in both obese and db mouse strains resulted from a mutation in a single gene in each case.

A rare condition that causes a person be born without fingerprints can now be explained by a mutation in a single gene, a new analysis suggests

SMA1 is a progressive, childhood, neuromuscular disease caused by a mutation in a single 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.

McCauley's interest is cystic fibrosis, a disease caused by mutations in a single gene, CFTR.

Cystic fibrosis is a rare inherited disease caused by mutations in a single gene called cystic fibrosis transmembrane conductance regulator (CFTR) and affects 1 in every 2500 newborns in the UK and over 90000 people worldwide.

A mutation in a single gene produced extra sweat glands in Asian people's skin, perhaps to help them keep cool in the warm and humid climate

Fragile X, which is caused by a mutation in a single gene on the X chromosome, affects about 1 in 4,000 men and 1 in 6,000 women.

Cystic fibrosis is a hereditary disease caused by mutations in a single gene called CFTR.

Professor Cattaneo's laboratory works on Huntington's Disease, a brain neurodegenerative disease caused by the mutation in a single gene.

SMA1 is a devastating, progressive neuromuscular disease in infants caused by a mutation in a single gene, SMN.

About Spinal Muscular Atrophy Spinal Muscular Atrophy is a genetic, motor neuron disease caused by mutations in a single gene, SMN1.

The tool, in particular, could be ideal for both these diseases, scientists think, because each is caused by mutations in a single gene that makes hemoglobin, the protein in the red blood cells that transports oxygen throughout the body.

In humans, PKD is one of the most common diseases caused by a mutation in a single gene.

The most common genetic killer of infants, a disease known as spinal muscular atrophy, is caused by mutations in a single gene.

Research on the CREB gene emphasizes the reductionist approach, in which elements of the complex phenomenon of memory formation are reduced to mutations in a single gene and studied in a simple model system, the fruit fly Drosophila

A mutation in a single gene has been linked to cases of severe obesity, offering scientists new targets for future gene therapy drugs (Credit: < a href ="https://depositphotos.com/19154541/stock-photo-serious-doctor-examining-a-patient.html" rel="nofollow"> sunabesyou / Depositphotos )

A mutation in a single gene has been linked to cases of severe obesity, offering scientists new targets for future gene therapy drugs (Credit: sunabesyou / Depositphotos)

Unlike rare diseases, which typically stem from mutations in a single gene, common diseases emerge from mutations in multiple genes, sometimes tens or even hundreds of them.

A mutation in a single gene has been linked to cases of severe obesity, offering scientists new targets for future gene therapy drugs

Among the specific findings is the confirmation that mutations in a single gene, TP53, are present in more than 96 percent of all such cancers.

Take cystic fibrosis, a genetic disease that creates a life - threatening accumulation of mucus in the lungs and is known to result from a single mutation in a single gene.

Not exact matches

An article in New Scientist (12 May 2012) explored the fact that a double mutation of a single gene seems to have taken place about 2.5 million years ago, beginning the separation of homo from Australopithecus.

Blakemore argues that a single gene mutation could in fact have been the cause of this increase - for in fact only one extra cell - division step would cause a doubling of brain size.

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.

Researchers from Duke University had previously used CRISPR to correct genetic mutations in cultured cells from Duchenne patients, and other labs had corrected genes in single - cell embryos in a laboratory environment.

The disease results from a single mutation in the gene that codes for one of the protein chains that make up the hemoglobin molecule.

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.

Because dogs appeared to inherit the disorder through a single mutation, Emmanuel Mignot and his colleagues at Stanford University Medical Center decided to sniff around in canine DNA for the flawed gene.

In the new study, the researchers sequenced the entire genome of mice that had undergone CRISPR gene editing in the team's previous study and looked for all mutations, including those that only altered a single nucleotidIn the new study, the researchers sequenced the entire genome of mice that had undergone CRISPR gene editing in the team's previous study and looked for all mutations, including those that only altered a single nucleotidin the team's previous study and looked for all mutations, including those that only altered a single nucleotide.

In these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functioIn these and other inherited diseases, 10 to 15 percent of the single - base pair mutations that cause the disease create a misplaced, premature «stop» codon in the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to functioin the middle of the gene — causing the machinery of the cell to prematurely halt synthesis of the protein, which destroys its ability to function.

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

The researchers determined that CRISPR had successfully corrected a gene that causes blindness, but Kellie Schaefer, a PhD student in the lab of Vinit Mahajan, MD, PhD, associate professor of ophthalmology at Stanford University, and co-author of the study, found that the genomes of two independent gene therapy recipients had sustained more than 1,500 single - nucleotide mutations and more than 100 larger deletions and insertions.

Almost immediately such familial genome sequencing proved its value, uncovering mutations responsible for diseases caused by defects in a single gene.

Rare mutations that shut down a single gene are linked to lower cholesterol levels and a 50 percent reduction in the risk of heart attack, according to new research from Washington University School of Medicine in St. Louis, the Broad Institute at Massachusetts Institute of Technology and Harvard, and other institutions.

They created a single - base mutation in a spot that mutates readily, then inserted this gene into each strand.

«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.

A mutation in the LRRK2 gene is the single most common inherited cause of Parkinson's disease.

The two studies together suggest that single copies of inactivating ANGPTL3 mutations are found in roughly one of every 250 people of European descent, whereas people with mutations in both copies of the gene — as in the family studied by Musunuru and colleagues — are much rarer.

The MGH investigators screened the genomes of 40 individuals with arhinia and 55 family members, from a total of 38 families, revealing rare single - nucleotide mutations within the SMCHD1 gene in 84 percent of affected individuals.

Other researchers had linked the ank mutation to mouse chromosome 15; in this week's Science, Kingsley's team reports that it's a single typo in a previously unknown gene, which they called ank, that led to a protein about 10 % shorter than the normal version.

The team found that a mutation in a single pair of nucleotides in the gene causes seed coat permeability — that is, a change in one pair out of the approximately 1 billion base pairs that make up the soybean genome.

In 1993, Brunner discovered a predisposition to violence in a single Dutch family carrying a mutation in the gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels in the braiIn 1993, Brunner discovered a predisposition to violence in a single Dutch family carrying a mutation in the gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels in the braiin a single Dutch family carrying a mutation in the gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels in the braiin the gene which makes monoamine oxidase A (MAOA), another enzyme vital for regulating neurotransmitter levels in the braiin the brain.

Sickle cell disease is a recessive genetic disorder caused by a single mutation in both copies of a gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.

That pattern of inheritance would suggest the strong effect of a single gene mutation, and it would most likely crop up in families that had a lot of shared genes through the intermarriage of first cousins.

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

Results from a statistical analysis shows a cluster of SNPs — single nucleotide polymorphisms — in one section of a single gene, indicating the location of a mutation likely linked to autism.