Sentences with phrase «by a single gene mutation»

Rare, deadly, and caused by a single gene mutation, it was a perfect proof - of - principle condition for anyone seeking to replace damaged DNA with genes that did the job.

While the disease is caused by a single gene mutation, the manifestation of the disease at a molecular level is nevertheless highly complex and involves multiple cellular processes.

Rather than being triggered by a single gene mutation, the tumors are caused by too many or too few copies of a gene in a person's cells.

Semenza's team uncovered the mitochondrial mechanism in a study of Von Hippel - Lindau (VHL) syndrome, caused by a single gene mutation and characterized by the tendency to develop tumors in many parts of the body, including the kidney, brain and adrenal glands.

Not exact matches

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

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

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

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

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.

This allows us to discern between viral strains that may even be different by just a single gene mutation.»

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.

With the data provided by the FLI researchers, scientists around the world may now set targeted mutations to investigate the relevance of single genes for aging, in order to better understand regulating mechanisms and, eventually, develop new approaches for therapy or prevention of aging - related diseases.

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

They found a single mutation in the ADGRE2 gene shared by family members with vibratory urticaria but not present in unaffected people.

After the gene was duplicated — now I just mention [ed] that duplication takes place all of the time, they are common sort of genetic accidents — but after the genes were duplicated, now there was the opportunity to divide the labor that was once stored by a single gene; now divide that labor into two genes, and what happened is, a series a mutations have taken place that has optimized each role — that the regulatory sensor role of GAL3 and the enzymatic - converting role of GAL1.

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.

Mutations generally abrogate gene function, indicating that the maize allele acts by suppressing lateral shoot development, converting grassy teosinte into slim, single - stalked modern corn and male into female reproductive structures (7).

Gene moonlighting can occur merely through changes in expression, which may result from as little as a single mutation; it does not require the meandering process of random alteration and selection implied by the duplication and neofunctionalization model.

The researchers, led by Dr Charles Wondji, used a wide range of methods to narrow down how the resistance works, finding a single mutation in the GSTe2 gene, which makes insects break down DDT so it's no longer toxic.

A single mutation in a gene can lengthen a mouse's life by nearly a third without any noticeable harm, according to a study in today's Nature.

Three will hunt for mutations underlying rare inherited diseases caused by a glitch in a single gene.

Scientists have developed a CRISPR gene - editing technique that can potentially correct a majority of the 3,000 mutations that cause Duchenne muscular dystrophy (DMD) by making a single cut at strategic points along the patient's DNA, according to a study from UT Southwestern Medical Center.

Twenty years after he first stumbled on FOP, Economides and his colleagues report today that the gene mutation shared by 97 % of people with the disease can trigger its symptoms in a manner different than had been assumed — through a single molecule not previously eyed as a suspect.

Instead, the project can start out by testing participants» DNA for so - called single nucleodtide polymorphism (SNPs), common mutations scattered along the genome that can point to disease risk genes.

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.

Although another recent study found that a single gene mutation heightened the risk of obesity by up to 67 percent, genetics can not explain the skyrocketing obesity trend.

By contrast, not a single one of 25 colorectal patients lacking mutations in mismatch repair genes responded.

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

Research into ageing is a young field that has seen immense progress in recent years, galvanised by discoveries that single gene mutations and dietary restriction can extend healthy lifespan.

Cardiomyopathy can be caused by a single mutation in any one of a number of genes, each one resulting in a slightly different variant of the disease.

More recently, however, it has become appreciated that after gene duplication, the resulting duplicates are often «subfunctionalized» and accumulate complementary mutations: the two genes together perform the function formerly carried out by a single ancestral gene.

CRISPR is conventionally a cut - and - paste tool allowing scientists to chop out unwanted strands of DNA and insert new genes, but a large volume of human diseases are caused by a single point mutation somewhere in a person's DNA.

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

Promoting survival and proliferation at the single - cell level is critical for expansion of any clonal colonies containing the mutation of interest generated by the gene editing process.

Because of the single mutation in GATA4, virtually the entire network of genes regulated by GATA4 and TBX5 were disrupted, resulting in disease.

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.

RESCUE and REVERSE are two separate randomized, double - masked, sham - controlled pivotal Phase III trials designed to evaluate the efficacy of a single intravitreal injection of GS010 (rAAV2 / 2 - ND 4) in subjects affected by LHON due to the G11778A mutation in the mitochondrial ND4 gene.

A more advanced experiment uses «single - worm PCR» to examine the mechanism of RNAi - comparing the DNA of worms with identical phenotypes induced either by RNAi or a gene mutation.

This idea is intuitive: in theory, large - effect variants would be kept at low frequency by natural selection, a pattern that's well established for mutations that cause rare single - gene disorders.

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

A rare, premature aging disease, Hutchinson - Gilford progeria is caused by a single point mutation in the gene encoding lamin A, which forms a protein scaffold on the inner edge of the nucleus that helps maintain chromatin structure and organize nuclear processes such as RNA and DNA synthesis.

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

The Cas9 / gRNA - modified fibroblasts were subjected to nuclear reprogramming by somatic cell nuclear transfer, resulting in live - born goats carrying single - gene mutation.

The disease is genetically simple, being characterised by a single mutation in the HBB gene; this simplicity has made it an attractive target for gene editing therapies.

All the progressive, late - onset retinal disorders described behave, more or less, as single - gene conditions, caused by highly penetrant mutations.

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.