Sentences with phrase «with high mutation»

HUR K Junho, first author of the study said, «The data showed that Cpf1 RNP's delivery to mouse embryos resulted in knocking out the intended genetic functions with high mutation frequencies, 64 % and 33 % respectively.

What we did not know was that BCC is also the cancer with the highest mutation rates.

Not exact matches

Color announced Thursday that it's introducing a Hereditary High Cholesterol Test that can detect a genetic mutation indicating Familial Hypercholesterolemia (FH), a genetic disorder which leaves carriers with high cholesterol that often leads to early heart diseHigh Cholesterol Test that can detect a genetic mutation indicating Familial Hypercholesterolemia (FH), a genetic disorder which leaves carriers with high cholesterol that often leads to early heart disehigh cholesterol that often leads to early heart disease.

What that means is biotech startups will be able to afford this high - tech equipment, and with it, they'll be able to pinpoint the genetic mutations that cause certain diseases.

(1) These regulatory thresholds reflect a decline in sperm quality with age and the greater likelihood of DNA mutations and higher risk of genetic abnormality in offspring.

In a 2009 study, Rodriguez found that in people, the mutation in the SCARB1 gene was associated with both higher levels of HDL and diminished amounts of the SRB1 protein.

Annabelle Rodriguez studies gene mutations that can lead to increased risk of heart disease, even in people with high HDL levels.

Like Krieger's mice, people with this mutation had high HDL but were also more likely to have coronary heart disease.

The authors searched for genetic mutations that might explain the disproportionately high risk of SUDEP in people with poorly controlled focal epilepsy, which, by definition stems from a specific area of the brain.

«We found that Amish people with this mutation have defects in fat storage, increased fat in the liver, high triglycerides, low «good» (HDL) cholesterol, insulin resistance and increased risk of developing type 2 diabetes,» says the study's senior author, Coleen M. Damcott, Ph.D., an assistant professor of medicine in the Division of Endocrinology, Diabetes and Nutrition and member of the Program for Personalized and Genomic Medicine at the University of Maryland School of Medicine.

«Taken together, our results suggest that SCN8A mutations in people with early - infantile epileptic encephalopathy may increase the risk of SUDEP by creating an environment in which the heart has a higher susceptibility to arrhythmias,» explains author Chad Frasier, Ph.D., a postdoctoral researcher at the University of Michigan.

Those with two copies of a mutation in the NRG1 gene, linked to psychosis, scored higher on creativity than volunteers with one or no copies of the mutation (Psychological Science, DOI: 10.1111/j.1467-9280.2009.02398.x).

«Short generation times and high mutation rates associated with short lifespan and fast growth enable new species to appear at a faster rate in the tropics,» he says.

Previous studies have shown that people with the mutation who also have certain pigmentation variants run an even higher risk of melanoma.

In the case of head and neck squamous cell carcinoma, for example, high stemness indices correlated with mutations in the gene NSD1.

So the result of the FTO mutations is a drive to eat higher - calorie foods paired with less calorie burning and more calorie hoarding — a challenging combination for any dieter.

ETH researchers have now shown that the high estimated mutation rates at the start of the epidemic were due to the limited number of virus samples at the time in combination with the computer models used, which calculate the estimates using genetic data from virus samples and from underlying assumptions.

People with specific mutations in the CARD14 gene have a high probability of developing psoriasis.

For some cancer types the researchers found that a high stemness index was associated with the presence of mutations.

«We believe that individuals born with this genetic mutation and who are later exposed to MAP through consuming contaminated milk or meat from infected cattle are at a higher risk of developing rheumatoid arthritis,» Naser said.

With a less efficient helicase and therefore less efficient DNA repair, Martin suggests, atherosclerotic lesions could arise like tumors from mutations in single cells, besides their well - known origin from chronic inflammation from high - fat diets.

The approach is already routine for some cancer patients, such as women and men with breast cancer tumors that have high levels of a protein called HER2, or lung cancer tumors with mutations in the EGFR gene.

Ashkenazi Jewish women with a family history of breast cancer may have a disease risk as high as 90 % or more if they carry mutations in BRCA1; another woman with no family history may have a much lower risk.

Michele Carbone and colleagues, from the University of Hawaii, discovered that members of 4 families, apparently unrelated and living in different US States, shared the identical mutation of a gene called BAP1 that is associated with a higher incidence of mesothelioma, melanoma, renal carcinoma and other cancers.

Next, the investigators compared the SBA mutations with mutations in the two other parts of the GI tract and found higher and lower mutation frequencies across a wide array of genes.

To find BRCA mutations — which are very rare — most studies have examined families with very high rates of breast and other cancer in young family members.

«BAP1 mutation passed down over centuries and is associated with high incidence of several cancers.»

The study, which compared each model's success in Caucasian women with those of Asian descent (Chinese, Japanese, Filipino, Korean and Vietnamese), also raised important questions about the effect of race on cancer development: When Caucasian and Asian patients with similar family histories of breast and ovarian cancer were compared, the Asian women had higher rates of genetic mutation, although the rates of these cancers for Asians have traditionally been lower.

Audiometric tests performed on individuals with mutations in this gene subsequently revealed an unusually high level of diversity in hearing impairments, in terms of both severity and characteristics.

Being obese or having a higher body mass index (BMI) while carrying a BRCA (BReast CAncer gene) mutation is positively linked with higher levels of damage to the DNA in normal breast gland cells, new research suggests.

All had abnormalities of TP53 or ATM — two mutations associated with high - risk disease — and two patients had increasing BTK C481S clones, also a high - risk marker.

They describe virus strains with mutations known to confer high resistance to oseltamivir, which they isolated from a 13 - year old girl and a 35 - year old woman killed by H5N1.

«We know that patients with BRCA mutations are at high risk for developing breast, as well as pancreatic, ovarian, prostate and other cancers, and we have learned over time that BRCA plays a very important role in DNA damage repair.

Women with a family history of two or more immediate family members (mother, sister, daughter) with breast or ovarian cancer or with a positive genetic test for mutations in the BRCA1 or BRCA2 genes may be advised to consider having both breasts removed, because they are at high risk of a new cancer developing in the other breast.

The investigators identified evidence of HRD - related mutations in 11.61 percent of them, with the highest concentration of mutations in endometrial cancer, gliomas, and ovarian cancers (38, 15 and 12 percent respectively).

Importantly, elevated BRCA1 methylation was confined to patients diagnosed with so - called high - grade serous tumors, the most aggressive variant of ovarian cancer, which also is the variant associated with BRCA1 mutations.

The study builds on Polyak's earlier research finding that women already identified as having a high risk of developing cancer — namely those with a mutation called BRCA1 or BRCA2 — or women who did not give birth before their 30s had a higher number of mammary gland progenitor cells.

Mutational signatures reveal high burdens of aristolochic acid — related mutations in Asian liver cancers, with Taiwan most intensely affected.

The reproducibility between two plasma specimens from the same patient was also high with a mutation concordance of 97 % (CI 94 - 99) for 224 matched specimens.

In the malignant tissue, they found up to 1500 genes with mutations — a level higher than has been found for either lung cancer in smokers or skin cancer in patients with heavy exposure to ultraviolet radiation.

They found that hybrids with the cavefish mutation weighed more and had higher blood - sugar levels than those without the mutation.

When a single gene exists in the ancestral mutation, that would have made for higher levels of enzyme expression, would have messed up with sensory function.

Moreover, higher filaggrin mutation rates, which result in a loss of urocanic acid, correlated with higher vitamin D levels in the blood.

And last year, Szabolcs Kéri at Semmelweis University in Hungary found that people with two copies of the mutation scored higher on a creativity test than people...

They also demonstrated that older parents have a higher risk of having a child with a developmental disorder caused by a new mutation.

Leppert and his colleagues found that several afflicted people in families with a high incidence of this condition had mutations in small sections of chromosome 20.

Patients with both high tumor mutation burden and high PDL - 1 positive status had a 75 percent response rate compared with a 16 percent response rate to immunotherapy among patients with low mutation burden and low PDL - 1.

Older parents have a higher risk of having a child with a developmental disorder caused by a new mutation.

Now scientists have uncovered what may be a secret of that versatility, at least for certain microbes: individuals with a high rate of genetic mutation, says a Report in today's issue of Science.

Is it true that physical exercise from a young age clears out cells with many mutations, or does it result in the generation of a higher number of such cells?