Sentences with phrase «type of mutation as»

This way the researchers obtain data for each type of mutation as well as precise mutation frequencies at any position of the RNA.

Not exact matches

They can evolve by duplication of their specificities as of the new type if, by any accident, they undergo a change (or mutation).

The researchers conducted a series of mutations on the detected positively selected amino acid sites, and further investigated the resulting protein's structural and functional features as relative to its wild type.

«Just as normal cells with the same genome differentiate into many different cell types, a single tumor characterized by specific genetic mutations can contain many different types of cells — stem - like and more differentiated cells — with the difference being rooted in their epigenetic information.

Instead they search specific regions of the genome for a type of mutation known as a single nucleotide polymorphism, or SNP (pronounced «snip»).

Ma said this type of mutation appears to be unique to soybeans as semideterminancy in other plants such as tomatoes and chickpeas is caused by a different genetic mechanism.

Scientists in northern Spain tracking populations of Drosophila subobscura, a type of fly, observed reversible changes in the frequency of genetic mutations, or «chromosomal inversions» in the flies» genomes — essentially, parts of the chromosome get flipped around with the seasons, as the weather changes from hot to cold.

Two years ago, a French group found that mutations in the human version are associated with Usher syndrome type 1B, a condition that accounts for 4 % to 10 % of all cases of inherited deafness, but is associated with blindness as well.

This is important because the proportion in which the de novo mutation is present in a patient, as well as the type of cells in which it occurs, may not only determine the clinical outcome of a disease for the patient, but also affect the risk of the parents having another child with the same disease in future pregnancies.

However, a majority of patients with advanced NSCLC worldwide do not have tumors with these mutations (known as wild - type [WT]; no mutation detected within the gene).

And another 18 percent had been misidentified as some other type of mutation.

KRAS exon 2 mutations were found in approximately 15 % of the tumours that were originally identified as wild - type.

However, genetic mutations in a gene called mixed lineage leukemia, or MLL, lead to an aggressive subtype of B - ALL known as MLL - rearranged, which is the most common type of acute lymphoblastic leukemia in infants.

Navin's team developed Nuc - Sec as a single - cell genome sequencing method and applied it to study how cell mutations occur in both types of breast cancer.

Mutations in individual genes can also activate interferon signaling and cause a class of autoimmune diseases known as type I interferonopathies.

The study focuses exclusively on the type of evolution known as purifying selection, which favors mutations that have no or only a small effect in a fixed environment.

But in 2010, Stephen Rossiter, an evolutionary biologist at Queen Mary, University of London, and his colleagues determined that both types of echolocating bats, as well as dolphins, had the same mutations in a particular protein called prestin, which affects the sensitivity of hearing.

Surprisingly, they found that although the patterns of gene expression — as shown by the RNA sequencing — differed between the hepatocellular carcinomas and the liver cancers with biliary phenotype and depended on the histological type, the overall pattern of mutations in the cells was actually similar between the tumors — of either type — that had emerged in patients who had had infections with either hepatitis C or B, and were different in patients without such infections.

The team also found that there were also cases of other cancer types in families with these hereditary mutations such as leukemias and brain tumours.

The researchers predicted that the TRPC5 mechanism might play a similar role in other types of progressive kidney disease — even if, in those cases, the damaging feedback loop was kickstarted from chronic disorders such as high blood pressure, rather than a specific genetic mutation.

The study further suggests that NSAIDs such as aspirin, ibuprofen and naproxen have a particularly advantageous effect when taken after diagnosis by colorectal, or CRC, patients without tumor mutation in the KRAS gene (KRAS wild - type tumors): The study shows that NSAID use by this group is associated with a survival benefit of 40 percent.

However, I did obtain a number of female Z116A transgenic mice that were heterozygous for the myostatin mutation, and as shown in Table 1 and Figure 2a, these mice exhibited further increases in muscle weights compared to Z116A mice that were wild type for myostatin.

The findings not only validate the systematic approach to whole - genome sequencing in clinics, they also demonstrate that de novo mutations, otherwise known as spontaneous mutations not inherited by parents, are the main cause of this severe type of epilepsy.

Large - scale cancer sequencing efforts such as TCGA and ICGC have catalogued somatic mutations in a variety of common cancer types.

Bethesda, Md., Wed., May 1, 2013 - A comprehensive genomic analysis of nearly 400 endometrial tumors suggests that certain molecular characteristics - such as the frequency of mutations - could complement current pathology methods and help distinguish between principal types of endometrial tumors, as well as provide insights into potential treatment strategies.

These mutations are known for being strong indicators of breast and ovarian cancer risk, as well as other types of cancer.

Human Embryonic Stem (hES) cells derived from Preimplantation Genetic Diagnosed (PGD)- embryos offer a new alternative source of cellular model as they can be largely expanded, differentiated in several cell types and harbors «naturally» the causative mutation of the pathology.

I prioritised variants and genes using case - control comparisons and functional annotations such as types of mutation, evolutionary conservation status and regulatory marks.

Moreover; in addition to the various mutations that have been highlighted and interact in key component of signaling cascades, different types of RNAs have been shown to be involved in melanoma pathogenesis such as: miRNAs and lncRNAs [48, 49].

Ataluren and amlexanox, work by enabling cells to bypass a particular type of DNA gene change known as a nonsense mutation.

The technical evaluation of projects may require the provision of additional data such as information on the genetic modification of your mutant mouse line if applicable (e.g. affected gene, MGI ID of the gene, type of mutation, ES - cell line used, genetic background (e.g. number of backcross generations), safety level, description of DNA modification, vector, remaining non-recipient DNA, donor organism), mutant phenotype (s), special housing or care requirements, current sanitary status, and intellectual property rights (who generated the mouse line, owner of the mouse line)

Mutations also may be inherited, such as those in the BRCA gene, which increases a person's risk for some types of cancer.

Using genomics approaches, Dr. Nobrega has identified the gene IRX3 as the strongest association to polygenic obesity in humans, and characterized the mechanisms by which mutations altering the expression of a gene called TCF7L2 also represent the strongest genetic link to type 2 diabetes in humans.

Dr. Nobrega has modeled the impact of mutations implicated in various human diseases, such as congenital heart defects, heart failure, cancer, type 2 diabetes, obesity, and asthma.

Two Gene Mutations Linked to Most Common Brain Cancers Scientists at the Johns Hopkins Kimmel Cancer Center and Duke University Medical Center linked mutations in two genes, IDH1 and IDH2, to nearly three - quarters of several of the most common types of brain cancers known asMutations Linked to Most Common Brain Cancers Scientists at the Johns Hopkins Kimmel Cancer Center and Duke University Medical Center linked mutations in two genes, IDH1 and IDH2, to nearly three - quarters of several of the most common types of brain cancers known asmutations in two genes, IDH1 and IDH2, to nearly three - quarters of several of the most common types of brain cancers known as gliomas.

They could see the results of recombination as well as other types of mutation, such as single base pair mutations.

Moreover, the ever - growing catalogues of tumor genome sequences — such as those created by the Cancer Genome Atlas (TCGA) and the International Cancer Genome Consortium (ICGC)-- enable integrated analyses of germline variation with somatic mutation data across tumor types (i.e. pan-cancer analysis).

At the moment, it is not clear whether the increased risk in some families is due to the type of mutation or to interaction with environmental factors such as smoking.

The ViroChip microarray [2], [3], [44], [45] was used to screen RNA samples isolated from prostate tumors collected prospectively from 39 individuals, of which 16 individuals were genotyped as harboring the R462Q RNAse L mutation (QQ), 10 individuals were heterozygous cases (RQ), and 13 were wild - type cases (RR).

The mutation impacts an important signaling pathway known as Wnt, that contributes to the function of many cell types.»

LOF mutations were defined as nonsense, frameshift, and splice - site variants, along with missense variants resulting in < 25 % of wild - type ANGPTL3 activity in a mouse model.

The challenge is that these mutations are «personal» to the tumor and patient; i.e., not all types of breast cancer carry the same set of mutations, and as a result, different patients have a different, personal set of mutations.

It is believed that as much as 50 % of the population has some type of MTHFR mutation.

His connection to Deadpool in Deadpool 2 has not yet been confirmed but in the books, he contracts a type of plant mutation, seeking to use Deadpool's healing factor as a cure.

The company's lead product, candidate ataluren, is used for the treatment of patients with genetic disorders that arise from a type of genetic mutation known as a nonsense mutation.

Many genetic mutations don't amount to much, but some of them later lead to serious health problems such as arthritis, insulin resistance, type two diabetes, and several types of cancer.

The... MORE Lutino variety can be found in virtually all markets, and is known as a very common color mutation in these types of parakeets.

Lutino variety can be found in virtually all markets, and is known as a very common color mutation in these types of parakeets.

Even though some breeds such as Siamese, Burmese, American Shorthair, Oriental Shorthair, Russian Blue and Tonkinese have a low incidence of type B, I still think it is a good idea to test as mutations may occur.

When the RSPO2 mutation and the mutation associated with the curly hair trait segregate in a breed, as they do in the Portuguese Water Dog, a variety of coat types can be expected in the progeny: tight curls with furnishings, wavy coats without furnishings and flat coats with no obvious curls or waves.