Sentences with phrase «gene mutations among»

More than three gene mutations among the 10 genes studied were observed in 68 % of women with recurrent miscarriage and 21 % of controls.

In 2008, they discovered a novel gene mutation among the Old Order Amish population that significantly reduces the level of triglycerides in the blood and appears to help prevent cardiovascular disease.

Not exact matches

There is the random, that is purposeless, mutation of genes, and there is the mechanical selection among the resulting organisms by the environment.

In this paper, I tried to interpret evolution as a continually shifting balance, spatially and temporally, among what I called the pressures of mutation, selection, and migration on gene frequencies, in conjunction with the effects of random drift composed of random variations in these pressures and of local accidents of sampling.

Their report, published May 10 in the journal Nature Communications, suggests that among more than a dozen different lines of mice developed around the world to mirror autism caused by mutations to the SHANK3 gene, Duke researchers are the first to create a mouse in which that gene has been completely eliminated.

The scientists looked for mutations, or abnormal changes in the DNA, and filtered out normal variations in genes that commonly occur among humans.

We screened a total of 394 Amish research subjects for the KCNH7 mutation; 84 of these individuals carried at least one copy of the gene variant, and the lifetime incidence of bipolar spectrum disorders among them was 49 percent (41 people were affected with the disease).

Gene mutations involved in enamel mineralization through the CRAC channels were first seen in people with a type of severe combined immunodeficiency, a disorder in which — among other symptoms — tooth enamel may fall off the teeth within five or six years after birth, and the dentine becomes exposed.

They then identified the putative causal mutations in genes controlling shattering (a key domestication trait among cereal crops).

Among patients with advanced non-small cell lung cancer without a mutation of a certain gene (EGFR), conventional chemotherapy, compared with treatment using epidermal growth factor receptor tyrosine kinase inhibitors, was associated with improvement in survival without progression of the cancer, but not with overall survival, according to a study in the April 9 issue of JAMA.

Although specific gene mutations have been identified in humans that can cause CCMs to form, the size and number varies widely among patients with the same mutations.

Aware of the ruling class's despotic regime, those with mutations become renegades who live underground and reproduce among themselves to breed humans without genetic enhancement, and without the weakness gene.

Molecular geneticist Lisa Baumbach of the University of Miami says the technique should be useful in screening for inherited forms of breast cancer, for which researchers must use many probes to distinguish among multiple mutations in a gene.

Examination of those people's exomes, the small portion of the genome that encodes proteins, revealed that among a subset of 821 participants, a total of 781 genes were rendered obsolete by «loss - of - function» mutations.

Mutations affecting adult haemoglobin production are among the most common of all genetic variations, with about 5 per cent of the world's population carrying a defective gene.

Hutchinson - Gilford progeria is caused by a spontaneous mutation during conception in a gene called LMNA, which encodes a protein called prelamin A. Progeria patients experience a buildup of an abnormal version of prelamin A in their cells that, among other changes, distorts the nucleus and alters gene expression.

«We have developed a sophisticated statistical analysis software that permits us to localize the cancerous genes among the thousands of somatic mutations in the cancer DNA sequence,» answers Sergey Nikolaev.

Multiple mutations in DNA — specifically, abnormalities in the p21 and p53 genes, among other changes — stop the process of apoptosis, or programmed cell death, that normal cells undergo.

Instead of using the traditional method of introducing genetic mutations into mice to create «knockout» mice — or animals with customized genes — they found they were able to find naturally occurring variants among animals in the wild.

«Mutations in the PIK3CA gene are among the most common genetic aberrations in breast cancer,» said Sibylle Loibl, M.D., professor at the German Breast Group in Neu - Isenburg, Germany.

In a report in the Sept. 25 issue of Nature Communications, the scientists say mutations in one such autism - linked gene, dubbed NHE9, which is involved in transporting substances in and out of structures within the cell, causes communication problems among brain cells that likely contribute to autism.

A May study in Nature found that 65 percent of autistic children share a set of mutations that may regulate genes known to influence communication among brain cells.

Moreover, our previous study found that regular use of aspirin after diagnosis was associated with longer survival among the 15 % to 30 % of patients with colorectal cancer and with a mutation in phosphatidylinositol -4,5-bisphosphate 3 - kinase, catalytic subunit alpha (PIK3CA [NCBI Entrez Gene 5290]-RRB-, one of the PI3K family genes.30 Markedly improved survival associated with aspirin according to PIK3CA status was also found in an analysis within a separate clinical trial cohort.31 Further investigations for the joint effect of these genes would be helpful to better understand the underlying molecular mechanisms of aspirin, NSAIDs, and colorectal cancer.

When the researchers looked at progression - free survival times among patients with and without the V600 type of mutation of the BRAF gene, the average for patients taking both drugs without the mutation was 11.2 months, and it was 11.7 months for those with the mutation.

Are any risk factors (e.g., gene mutations, environmental exposures) common among people who develop a certain kind of cancer?

Among the study findings, IR mutations alter expression of many genes both in fibroblasts and iPSCs compared to normal cells, «but the impact is very much dependent on the cell type,» says Kahn.

Among other findings, SWIF (r) identified several adaptive mutations in a set of genes responsible for energy and fat storage.

Among the 108 genomes assessed, there were 23 genes harboring non-silent mutations in at least three independent tumors, suggesting an important role in tumor development or growth.

Even among classic monogenic Mendelian diseases, there's a surprising amount of heterogeneity in terms of causal mutations, causal genes, inheritance patterns, and clinical presentation.

In accordance with the conceptual classification of the mutated genes, overlap mutations were seldom present among histone methylation, histone acetylation, DNA methylation or chromatin remodeler genes.

DATE: April 3 TIME: 3:20 p.m. LOCATION: Room 204, Level 2, Washington Convention Center TITLE: Germline mutations in cancer predisposition genes and risk for subsequent neoplasms among long - term survivors of childhood cancer in the St. Jude Lifetime Cohort ABSTRACT: 3001

Among the various projects and activities in the past 3 years at the ECRC the main progress has been made in identifying that mutation of the PRDM16 gene causes cardiomyopathy.

Among the top - five genes, there were three that regulate the structure of the skeleton, where, for example, mutations in one gene have been shown to lead to the prominent brow - ridges and rib forms reminiscent of Neanderthals.

RND takes into account possible mutation rate differences among genomic regions by incorporating divergence to a third more distantly related species, and is expected to be inversely proportional to the amount of gene flow.

One mouse was sequenced to 15x coverage, and among the handful of somatic nonsynonymous mutations found, one was recurrent, not only in the APL mice, but also in the same gene in human tumors.

Among colonies with double - gene mutations, 55 % (5 of 9) of the mutants had mutations in all four alleles of these two genes (Figure 2D and Figure S2).

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.

Using this, we have identified abnormalities in these structures among 298 embryos from mutant mouse lines carrying embryonic lethal gene mutations produced for the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme.

In this study, the research team searched for gene mutations - or other variations in the genome - that may have a direct effect on the risk of pathologically low - bone density among a large set of sequence variants.

Among other accomplishments, this milestone - based program made possible the development and clinical testing of antisense therapy against a common gene mutation in ALS, the first application of antisense therapy to any neurologic disease.

The rate of mutations in these genes was nearly 12 % among these men, compared to about 5 % among men with slower growing, localized prostate cancer.

In contrast, disorders that occurred equally among purebred and mixed - breed dogs appeared to represent ancient gene mutations that had become widely spread throughout the dog population.

The Manx taillessness is caused by a mutation that probably originated among the island's native shorthair cat population and, because it is a dominat gene, spread to the other cats on the island.

OptiGen now offers a direct gene mutation test (mutation test) to detect the prcd - PRA status of any dog among affected breeds.

Why was one gene mutation that affects hair, teeth, sweat glands and breasts ubiquitous among ice age Arctic people?

In their study they found a point mutation in the structural gene for monoamine oxidase A (MAOA), a neurochemical in the brain, which they associated with aggressive criminal behavior among a number of males in that family (Alper, 1995).