Sentences with phrase «of additional mutations»

The progression of the ancestral tumor cell to a full - blown cancer results from the sequential acquisition of additional mutations that confer a selective growth advantage to the original clone.

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 mutations.

Not exact matches

The authors conclude by raising what they consider to be «a broader ethical problem with OAR,» stating that this procedure amounts to nothing more than human cloning with the additional twist of introducing a genetic mutation» ominously concluding that a «combination of wrongs can not make the end result good.»

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 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 Gab2.

«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 work.

Indeed, all of the tumors from patients who carried this particular T - to - A mutation also had additional mutations that inactivate the APC gene.

«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.»

Women who have a genetic mutation face a higher risk of developing a second breast cancer and may wish to consider more aggressive treatment, preventive measures or additional screening.

The researchers considered two possible explanations: Disease suppression might be the result of one or two additional substitutions on the same gene that buffer the harmful effect of the mutation; or suppression may be caused by numerous small substitutions throughout the genome that form an aggregate «shield.»

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.

They are also working with additional collaborators, including the New York Genome Center, to sequence approximately 500 more Ashkenazi genomes to make the catalog of mutations even more comprehensive.

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.

Kawaoka's group carried out a series of experiments that coaxed out additional mutations with that effect.

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 cancer.

«We're going to introduce additional mutations to sensitize the virus even more to the innate immune response and prevent the infection from spreading,» said Diamond, who also is a professor of molecular microbiology, and of pathology and immunology.

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.

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.

Additional sequencing led the researchers to identify a previously unknown mutation on the X-chromosome that may be associated with cases of ovarian cancer that develop more than 6 years earlier that average.

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.

Additional investigation showed that the mutations that squelched steroid family members» ability to bind DNA repressively didn't affect the part of the protein that directly contacts the DNA.

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

«We looked for other mutations and found that an additional mutation was needed to activate hAgo1 slicing,» says Chris Faehnle, the first author of the paper.

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.

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.

An additional 6 isolates with varying morphotypes retrieved from the UK HPA reference library will also be sequenced and compared for further identification of mutations that may lead to morphology differences.

[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.

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)

And researchers can not yet easily distinguish between mutations that are driving the cancer process versus those that are essentially artifacts of that process, without doing additional experiments once they have been identified.

«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 inhibition.

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.

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.

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.

The goal of our research is to provide doctors with key, additional information to choose best treatment strategies for breast cancers with novel mutations of unknown significance.

Two additional tumors had a substantially reduced proportion of mutations attributed to MMR deficiency, where the predominant mutational signatures were related to APOBEC enzymatic activity.

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.

Derivatives of this basic construct included removal of the alternative exon 4 by deleting an Nhe I / Apa I fragment (nucleotides 12,259 — 12,543; Figure 3D); replacement of the genomic region covering exons 2 — 6 with the corresponding cDNA sequence (Sal I to Nco I; nucleotides 14,412 — 11,736; Figure 3E) plus additional upstream sequence to allow for recombination with F56B12 (to the Xho I site at nucleotide 15,574); and introduction of a Met to Leu mutation (M121L, ATG to CTG) by PCR amplification with primers that included the sequence change (nucleotides 11,968 — 11,970; Figure 3F).