Sentences with phrase «caused by any single gene»

«Most PRAs, including the one in Phalenes and Papillons, are recessive and caused by single gene defects and small sample numbers can lead to breakthroughs.

It is caused by a single gene abnormality which leads to the production of a mutant form of a protein called huntingtin (mHtt).

In the intervening years, we have come to realize that many of the most interesting and important phenomena in human biology are not caused by any single gene.

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.

Unlike some other common vision disorders, such as age - related macular degneration, color blindness is a heritable disorder caused by a single gene that is defective or absent.

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.

Alpha -1-antitrypsin deficiency (A1ATD) is the most common genetic disease of the liver, and is caused by a single nucleotide change in the gene that codes for alpha -1-antitrypsin (A1AT), an enzyme inhibitor that normally protects bodily tissues.

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.

To avoid that muddle, Steve Brown and Xue - Zhong Liu, molecular biologists at the Medical Research Council's Mouse Genome Center in Harwell, England, sought families in remote areas of the world, where the families» deafness is more likely to be caused by a single mutated gene.

Cystic fibrosis, achondroplasia, phenylketonuria and Huntington's disease are each caused by simple changes in the sequence of a single gene.

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.

The researchers found that the blond hair commonly seen in Northern Europeans is caused by a single change in the DNA that regulates the expression of a gene that encodes a protein called KITLG, also known as stem cell factor.

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

This trait is caused by the accumulation of large amounts of β - carotene that was reported to be controlled by a single recessive gene ore.

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.

On the other end of the spectrum are Mendelian diseases such as cystic fibrosis and sickle - cell anemia, which are caused by abnormalities to a single gene.

Growing resistance to malaria drugs in Southeast Asia is caused by a single mutated gene inside the disease - causing Plasmodium falciparum parasite, according to a study led by David Fidock, PhD, professor of microbiology & immunology and of medical sciences (in medicine) at Columbia University Medical Center.

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.

Allan - Herndon - Dudley syndrome is caused by defects to a single gene that controls the flow of thyroid hormone to the brain.

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.

Changing the epigenetic code of a single gene is enough to cause a healthy breast cell to begin a chain reaction and become abnormal, according to research by Queen Mary University of London (QMUL).

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

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.

Ruffled genes Burke was part of a team that, in 1995, found that the different approaches of male ruffs were caused by a single inherited factor.

Because Huntington's disease is caused by a single faulty gene, it's a good candidate for zinc finger drug research.

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.

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.

The condition is more common than muscular dystrophy and cystic fibrosis, but the development of new therapeutic concepts is hindered by the fact that unlike muscular dystrophy and cystic fibrosis, where a single mutated gene causing the disease is known, the entire human chromosome 21 (containing around 300 genes) still has to be dissected into individual gene - dose contributions to the DS symptoms.

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.

The researchers chose to explore its potential in mice with a dominant cataract disorder caused by a single copy of a gene known as Crygc.

What's more, inherited diseases can arise from a problem with one gene (a simple example is sickle - cell anemia, a condition caused by defects in a single gene that makes the hemoglobin protein), or from interactions among a range of genetic variations as well as, frequently, environmental stresses.

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.

As a disease caused by a mistake on a single gene, Huntington's disease is an ideal model for other brain disorders.

This may be true in a first generation cross (F1) because to inherit a genetic disease which is caused by a single recessive gene, offspring would need to inherit the gene from both parents.

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.