Sentences with phrase «additional mutations in»

This observation suggests that activation of the JAK - STAT pathway and the RAS — mitogen - activated protein kinase (MAPK) pathway can cooperate in CMML, and suggests that the possibility that additional mutations in JAK2V617F mutant hematopoietic progenitors may direct the eventual disease phenotype in specific patients.

Thus we can conclude that mutations occurred in the CDR3s during the protein immunization phase resulting in neutralization ability, alongside additional mutations in the V gene which are required for breadth at least in the A14 / B9 lineage.

Not exact matches

Jaenisch says that the method that identified the single point mutation in SNCA's enhancer could be used to pinpoint additional pathogenic genes for sporadic PD and sift through the GWAS hits for other diseases, including Alzheimer's disease, cancer, diabetes, and multiple sclerosis.

In an additional group of endometriosis samples biopsied from 15 women at the University of British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replicatioIn an additional group of endometriosis samples biopsied from 15 women at the University of British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replicatioin the KRAS gene, whose expression signals proteins that spur cell growth and replication.

Although mutations can occur anywhere in the human intestine, certain types of colorectal cancer tend to develop in particular locations, suggesting that additional, nongenetic factors contribute to tumor growth and dictate where polyps appear.

In experiments on cell cultures, both of these inhibitors succeeded in breaking various forms of the TKI resistance: including forms caused by additional mutations of the gene Bcr - Abl as well as those caused by large quantities of the protein GabIn experiments on cell cultures, both of these inhibitors succeeded in breaking various forms of the TKI resistance: including forms caused by additional mutations of the gene Bcr - Abl as well as those caused by large quantities of the protein Gabin breaking various forms of the TKI resistance: including forms caused by additional mutations of the gene Bcr - Abl as well as those caused by large quantities of the protein Gab2.

In the latest study, the international team revealed new insights into how this additional mutation leads to resistance, opening avenues for new treatments.

«In most cases we think the body's growth control mechanisms eventually stop the cells from proliferating further, but in occasional cases where additional mutations occur in the clump of cells, a tumour will eventually develop,» says Andrew Wilkie also of the University of Oxford, who supervised the worIn most cases we think the body's growth control mechanisms eventually stop the cells from proliferating further, but in occasional cases where additional mutations occur in the clump of cells, a tumour will eventually develop,» says Andrew Wilkie also of the University of Oxford, who supervised the worin occasional cases where additional mutations occur in the clump of cells, a tumour will eventually develop,» says Andrew Wilkie also of the University of Oxford, who supervised the worin the clump of cells, a tumour will eventually develop,» says Andrew Wilkie also of the University of Oxford, who supervised the work.

Eight additional affected children in six unrelated families were found to also have disease - causing mutations in this gene.

The Oxford researchers turned back from the boy to the KE family and, using the additional information, discovered that those members with language troubles shared a mutation in FOXP2 as well.

«One of the major and immediate downstream effects of myc activation is a dramatic increase in the capacity of affected cells to make protein,» Ruggero said «This, in turn, leads to increased cell survival and proliferation, and to unstable genomes that foster additional mutations that turn these abnormal cells into tumor cells.»

A genetic mutation usually leads to crippled and misfolded proteins, but in rare instances an additional mutation can bring a protein back to life.

For horses around the world, the same genetic mutation — bred into the horses by humans — underlies these additional gaits, researchers report in the March issue of Animal Genetics.

Since whole - brain radiation is associated with significant cognitive effects and the use of additional radiation therapy for progression is common in this population, the Yale researchers suspect that patients with the ALK mutation would benefit from radiation focused on individual metastases.

But in a polyploid organism such as wheat, mutations in individual genes often have no apparent effect, because additional copies of the mutated gene compensate for the loss.

Velculescu cautions that medical practice may not change much until additional studies validate their findings, and there are ongoing clinical trials studying the removal of fallopian tubes instead of ovaries in women with cancer - causing, hereditary BRCA1 and BRCA2 mutations.

In cases where there are lots of T cells in the vicinity of a tumor, or where tumor cells have undergone large numbers of mutations, which creates additional targets for immune sentries, T cells will signal a full - fledged immune response to the canceIn cases where there are lots of T cells in the vicinity of a tumor, or where tumor cells have undergone large numbers of mutations, which creates additional targets for immune sentries, T cells will signal a full - fledged immune response to the cancein the vicinity of a tumor, or where tumor cells have undergone large numbers of mutations, which creates additional targets for immune sentries, T cells will signal a full - fledged immune response to the cancer.

As an additional safety feature, the researchers introduced two mutations that weakened the virus's ability to combat the cell's defenses against infection, reasoning that the mutated virus still would be able to grow in tumor cells — which have a poor antiviral defense system — but would be eliminated quickly in healthy cells with a robust antiviral response.

They were interested in determining what types of secondary, additional changes occur in primary BRCA1 / 2 germline mutation - associated cancers that might act in concert with BRCA1 and BRCA2 to drive the cancers.

The additional mutations we detected could help in getting the best possible treatment results,» adds Antonarakis.

Once the tumors are established in the mice, the researchers can introduce additional mutations at any time, allowing them to study the influence of each mutation on tumor initiation, progression, and metastasis.

Geneticist Richard Sturm of the University of Queensland in Brisbane, Australia, an author of one of the papers says that someday scientists may find additional mutations that cause blue eyes but for now, the signs point to a single change.

In the absence of the «forgotten strands» DN2a cells fail to mature and ultimately after accumulating additional mutations become malignant T cells also named leukemias or lymphomas.

In some patients, the cancer cells carrying the T790 - M mutation acquired an additional EGFR mutation not seen before, labeled C797S, which blocked the AZD9291 from docking to the tumor cells, and causing the disease to advance.

Additional experiments with cultured cells suggested that the mutation interferes with one of the enzymes that breaks down the APP protein and causes a 40 % reduction in β amyloid formation, Stefansson and colleagues report online today in Nature.

[17] Mutations of additional genes have been implicated in the pathogenesis of Kallmann syndrome and / or hypogonadotropic hypogonadism, including the following genes: WDR11, FGF17, IL17RD, DUSP6, SPRY4, FLRT3, AXL, SOX10, SEMA3A, and HS6ST11.

No de novo or truncating KIF17 mutations were found in the additional samples.

About 35 % of additional LCH tumors have mutations in related genes, Campbell says.

This additional mutation is located in an area of the structure where it binds to RNA, known as the RNA binding groove.

[69,72] In gastrointestinal stromal tumors (GIST), secondary resistance to KIT inhibition is caused primarily by development of additional KIT mutations.

Thus the search is on is to discover additional cancer - causing genes «downstream» of TET mutations that drive uncontrolled cell division in either context.

In all 7 cases, the results suggest a linear model of clonal evolution, in which progression from MDS to sAML was characterized by persistence of a single founder clone (defined by ~ 200 - 700 mutations) and the outgrowth of at least one new subclone which contained dozens or hundreds of additional mutationIn all 7 cases, the results suggest a linear model of clonal evolution, in which progression from MDS to sAML was characterized by persistence of a single founder clone (defined by ~ 200 - 700 mutations) and the outgrowth of at least one new subclone which contained dozens or hundreds of additional mutationin which progression from MDS to sAML was characterized by persistence of a single founder clone (defined by ~ 200 - 700 mutations) and the outgrowth of at least one new subclone which contained dozens or hundreds of additional mutations.

That, in turn, generates free radicals — unstable molecules that can damage DNA, creating additional mutations that allow the tumor to become more invasive, infiltrating tissues and migrating to other parts of the body.

In the process, it gained additional mutations, possibly via the DNA damage induced by chemotherapy.

[41] Approximately 50 % of cutaneous melanomas have an activating BRAF mutation, with an additional 10 % to 20 % having an activating mutation in NRAS; NRAS is an upstream partner of BRAF that also activates the phosphatidylinositol 3 - kinase (PI3K) / Akt / mammalian target of rapamycin (mTOR) pathway.

«That's why a lot of East Asians can't metabolize alcohol,» Pritchard said, «but mutations in this pathway must have some additional positive effect that has been favored by natural selection.»

The identification of a single disease allele in 3 related myeloid diseases suggests that the JAK2V617F mutation may be important in the pathogenesis of additional hematopoietic malignancies.

Additional in vitro and in vivo studies are needed to determine the cause of the specificity of JAK2V617F for myeloid diseases, as second mutations, host modifiers, differential cytokine receptor expression, and other factors may influence the ultimate phenotype of hematopoietic progenitors that acquire the JAK2V617F mutation.

In the Journal of Biological Chemistry, Sonia Aguila and colleagues at the Universidad de Murcia describe how they identified an additional set of antithrombin deficiency — associated mutations in the distal region of antithrombins and showed that this domain is essential for the final steps of thrombin inhibitioIn the Journal of Biological Chemistry, Sonia Aguila and colleagues at the Universidad de Murcia describe how they identified an additional set of antithrombin deficiency — associated mutations in the distal region of antithrombins and showed that this domain is essential for the final steps of thrombin inhibitioin the distal region of antithrombins and showed that this domain is essential for the final steps of thrombin inhibition.

«Resequencing DIET1 in additional subjects will be required to reveal whether DIET1 rare mutations or additional common variants contribute to variations in bile acid metabolism.

Given the possibility that there may be additional JAK2 mutations in AML, we resequenced all coding exons of JAK2 in 93 AML samples and did not identify additional JAK2 mutations.

Both sisters appeared to share a de novo (i.e. newly arisen) nonsense mutation in a gene called Additional Sex Combs Like 3 (ASXL3).

We could also quantify this contribution, noting that the expected number of sun - related mutations associated with an MC1R variant is comparable to the number gained in about 21 additional years of age.

Fortunately, experiments done by Dr. Jan Vijg at the Albert Einstein College of Medicine and others on mutations (changes in base sequence in DNA) and additional studies commissioned by SENS Research Foundation on epimutations (changes in the arrangement of methyl groups) suggest that these latter kinds of alterations - the kind that accumulate in cells without triggering apoptosis or senescence or contributing to cancer - accumulate too slowly to make a difference with the current lifespan.

Vogelstein has gone on to investigate additional genes involved in colon cancer such as APC, mutations of which lead to colorectal tumors, and PIK3CA, whose mutations turn benign tumors malignant.

Extended genomic profiling has established a multitude of additional acquired mutations, particularly prevalent in myelofibrosis, where their presence carries prognostic implications.

Here, we report a total of seven patients (six patients identified through the Wellcome Trust Deciphering Developmental Disorders study, with one additional patient), who have heterozygous de novo mutations in HNRNPU.

In these analyses, we identify and subsequently analyze a set of 107 autosomal genes with a false discovery rate (FDR) of < 30 %; in total, this larger set of genes harbor de novo loss of function (LoF) mutations in 5 % of cases, and numerous de novo missense and inherited LoF mutations in additional caseIn these analyses, we identify and subsequently analyze a set of 107 autosomal genes with a false discovery rate (FDR) of < 30 %; in total, this larger set of genes harbor de novo loss of function (LoF) mutations in 5 % of cases, and numerous de novo missense and inherited LoF mutations in additional casein total, this larger set of genes harbor de novo loss of function (LoF) mutations in 5 % of cases, and numerous de novo missense and inherited LoF mutations in additional casein 5 % of cases, and numerous de novo missense and inherited LoF mutations in additional casein additional cases.

When done improperly, the process can cause you to breathe in additional, possibly large doses of mercury vapor — a big problem if you have the MTHFR gene mutation and intestinal permeability (an excess of mercury exposure all at once can overburden your detox pathways).

But even in these cases, mutations must occur in additional genes for the malignancy to form and be able to spread — to become a cancer.