Sentences with phrase «rare gene mutations»

By scouring the DNA of thousands of patients, researchers have discovered four rare gene mutations that not only lower the levels of triglycerides but also significantly reduce a person & rsquo; s risk of coronary heart disease

Certain rare gene mutations can contribute significantly to low levels of a beneficial form of cholesterol in the blood, researchers have found.

The individuals with the rare gene mutations did not appear to differ from the larger population in any other ways, including in measures of blood pressure, body mass index and rates of diabetes.

I have always wondered if innovation required some rare gene mutation, or whether I might be missing a simple formula for unlocking the ability in any intelligent business person to innovate.

A new multi-institutional study by Japanese researchers shows a potential rare gene mutation that could act as a predictor for two neurodevelopmental disorders, schizophrenia and autism.

As is the case in many genetically - based diseases, the single rare gene mutation that causes the problem was unknowingly spread when a normal - appearing carrier dog was used for breeding (ref)

Not exact matches

This team also discovered 3,200 genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent in the population because of their detrimental effect on human health.

Genetic variation can take the form of common base changes (polymorphisms) that alter gene function or rare base changes (mutations) that often have highly deleterious effects.

Now, new research has found several rare genetic mutations on the same gene that definitively connect the two.

The study identified yet another mutation — albeit a rare one — in the SCARB1 gene, also associated with elevated HDL levels, that raised coronary heart disease risk by a whopping 80 percent.

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

Last summer Rienhoff thought he had caught the culprit in a gene called CPNE1, but he quickly discarded the possibility because the mutation turned out to be too common to explain such a rare disorder.

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.

In living people, a rare mutation that causes members of a family to produce half the usual amount of FOXP2 protein also triggers severe speech defects, notes Simon Fisher, director of the Max Planck Institute for Psycholinguistics in Nijmegen, the Netherlands, who discovered the gene.

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.

Researchers from Massachusetts General Hospital (MGH) led a large, international research team that has identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems.

The good news is, unless you have one of the very rare genetic mutations that undeniably cause obesity, your genes are just one factor in your weight profile.

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.

«Gene mutations behind lack of a nose identified: Alterations in same gene previously associated with rare form of muscular dystrophy.&raGene mutations behind lack of a nose identified: Alterations in same gene previously associated with rare form of muscular dystrophy.&ragene previously associated with rare form of muscular dystrophy.»

Nine rare, disease - causing mutations of the gene, FBXL4, were found in nine affected children in seven families, including three siblings from the same family.

While this study surfaced only five families with these rare mutations in the PKC alpha gene, there are many ways to influence PKC alpha's activity, Newton said.

This rare condition can be caused by mutations in several genes, one of which is called RPE65.

«Rsearchers crack mystery behind rare bone disorder: Study finds gene mutations that cause «dripping candle wax» bone disease.»

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.

«This is an exciting study of a very rare bone disorder that not only identified the responsible mutation in half of the patients, but uncovered fundamental information about the role of a cancer - related gene in the metabolic pathways of normal bone,» said study co-senior author Joan Marini, Ph.D., M.D., of NICHD.

Mutations in the gene predispose to colon cancer and cancer of the uterus, and increase the risk of developing some other, rare tumours.

The researchers conducted their studies in mice because patients with mutations in the STIM1 gene and that of the channel it activates, ORAI1, are extremely rare and often too sick to study due to chronic infections and lymphoproliferative disease.

But for certain infants with rare, inherited mutations of certain genes, severe infection and death are stark consequences of their impaired immune responses.

Although these mutations are relatively rare, their discovery, reported in the January issue of Nature Genetics, could help point the way to other genes behind inherited epilepsies, which are thought to account for about 40 % of all forms of the disease.

The NCP1 gene identified is not a known variant in humans; it is a rare mutation to the feline population.

According to DNA analysis, those people may have inherited Yamnaya genes that made them taller; they may also have had a then - rare mutation that enabled them to digest lactose in milk, which quickly spread.

The study of almost 8,000 families, published today (21 March) in Nature, found for the first time that mutations outside of genes can cause rare developmental disorders of the central nervous system.

By studying rare «copy number variations,» which are individual errant insertions or deletions of DNA segments (each of which occur in less than one percent of the population), researchers discovered a new cluster of genes that are affected in some autistic individuals as well as a number of mutations that were present in autistic children but not their parents.

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.

Within a population, each individual mutation is extremely rare when it first occurs; often there is just one copy of it in the gene pool of an entire species.

Additionally, they sequenced 68 HLHS patient samples and found one individual with rare mutations in both SAP130 and PCDHA genes.

The new study suggests that even rare mutations that disable both copies of a gene, which scientists thought would be associated with diseases, aren't necessarily a problem.

A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an international research team, including scientists from Columbia University Medical Center (CUMC).

Viruses are notorious for evading man - made drugs, but they are powerless against a rare mutation in the gene ISG15.

A rare exception is the gene known as disrupted in schizophrenia 1 (DISC1), in which some mutations have a strong effect.

The rare form of diabetes, MODY4, is caused by a mutation in the PDX1 gene.

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

A large number of rare childhood diseases stem from mutations in genes that play an essential role in lipid synthesis.

Unlike all other chromosomes in our cells, the Y chromosome, which bears the male sex - determining gene, is passed essentially unchanged from father to son, barring rare mutations.

Hereditary colorectal cancers, caused by inherited gene mutations, are relatively rare for most patients.

But that makes it all the more puzzling that mitochondria have retained any genes at all, especially considering that mutations in some of those genes can cause rare but crippling diseases.

A previous study of a population in Iceland found that a rare mutation in the gene encoding TREM2 substantially elevated a person's risk of Alzheimer's disease.

Mutations in a gene that helps regulate when genes are switched on and off in cells have been found to cause rare cases of Wilms tumour, the most common kidney cancer occurring in children.

Mice with a gene mutation linked to rare human cases of autism show a hallmark symptom of the disorder: impaired social interactions.

Even if mutations are rare, however, locating a gene and its associated protein, says cardiologist Douglas Zipes of the Indiana University School of Medicine in Indianapolis, «will give a major advantage» to researchers trying to unravel the biochemical triggers of the erratic electrical signals in all patients.