Sentences with phrase «which types of mutations»

«If we can define which types of mutations and changes are the critical events driving tumor growth, we will be better equipped to identify the most appropriate treatments for individual cancers.»

Not exact matches

Using several techniques to gauge the effects of these mutations, which are the most common type of variant in the human genome, Akey estimated that more than 80 percent are probably harmful to us.

Researchers have discovered that a hereditary mutation in gene ENPP1 contributes to obesity in children and early onset of type II diabetes, both of which carry severe health risks.

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.

Tumours which carry mutations in KRAS genes (40 % of CCR) or BRAF genes (between 5 and 15 % of these types of cancers) are ineffectively treated and have poor prognosis.

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.

The researchers studied a form of the condition called Charcot - Marie - Tooth disease type 2A, which is caused by specific genetic mutations.

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.

The kitten was found to have two copies of a mutation in the NPC1 gene, which causes Niemman - Pick type 1, a fatal disorder.

These are two pathways that are very commonly mutated in human tumors, and we try to understand where those pathways are mutated, which type of tumors, what are the mutations that co-occur with mutations in those pathways; and try to understand, if we try to inhibit those pathways, what can we expect in patients.

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.

The findings, which were published online in the journal Cancer Cell, could ultimately lead to new targeted therapies for many other types of cancer carrying similar p53 mutations.

With the help of modern genetic technology and the resources of the International Rice GeneBank, which contains more than 112,000 different types of rice, evolutionary biologist Kenneth Olsen, PhD, associate professor of biology in Arts & Sciences at Washington University in St. Louis, has been able to look back in time and ask whether the same mutations underlay the emergence of the same traits in both cultivated and weedy rice.

People who inherit p53 mutations develop a rare disorder called Li - Fraumeni Syndrome, which confers a near 100 percent risk of developing cancer in a wide range of tissue types.

Although BRAF gene fusions were well known to be involved in PLGGs, the study team found important differences in a related gene, CRAF, in which mutations can also lead to this type of glioma.

All these mutations hit the coding part of genes, but there are other types of mutations that the teams can not yet detect using current technology, which is why the 30 % is a conservative estimate.

Most of these «familial» cases have been linked to mutations in a gene called BMPR2 (bone morphogenetic protein receptor, type II), which was identified simultaneously in 2000 by two independent research teams, one led by the late Robin Barst and Jane Morse, CUMC researchers.

Cells of the latter cancer types contain many DNA mutations, which are thought to make distinctive «neoantigens» that help the patient's immune system recognize and attack tumors, and make the cancer cells» «microenvironment» hospitable to tumor - fighting T cells.

A mutation in the gene encoding fibroblast growth factor receptor 3 (FGFR3) has been associated with two types of skeletal dysplasia, thanatophoric dysplasia (TD), a skeletal dysplasia that cause serious respiratory problems at birth and is often lethal, and achondroplasia (ACH), which causes stunted growth and other complications throughout life.

Mutations in the protein, otoferlin, are linked to severe congenital hearing loss, a common type of deafness in which patients can hear almost nothing.

But sometimes what we inherit remains hidden, like BRCA gene mutations which can increase your risk for developing certain type of cancers.

Dr. Eng and team create scoring system to facilitate identifying individuals to be referred to PTEN gene testing Researchers have discovered a method for more precise identification of individuals who should undergo testing for genetic mutations of the tumor suppressor gene PTEN, which associates with a variety of conditions including several types of cancers.

Dr. Sotos» hypothesis is that Lincoln had MEN 2B (a type of multiple endocrine neoplasia (MEN) caused by RET mutations) instead of Marfan syndrome, which has been postulated in the past.

By replacing a relatively large region of DNA, the technique allows the scientists to fix many gene mutations at once, which suggests the method might provide a way to treat hundreds of types of HBB - related diseases.

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.

Researchers at Karolinska Institutet, KI, and SciLifeLab have together with colleagues in USA identified mutations in blood, which considerably increases the risk of developing various types of blood cancer, like leukaemia.

The Cancer Genome Atlas, an organization that hopes to sequence many types of cancer, led the mapping using massively parallel sequencing, which compares normal and cancer DNA and looks for mutations [source: Kushnerov].

All these mutations hit the coding part of genes, but there are other types of de novo mutations that the team can not yet detect using current technology, which is why 30 % is a conservative estimate.

However, one study which analyzed data from humans and genetically modified mice suggested that the LYP variant associated with type 1 diabetes is a loss - of - function mutation that reduces LYP activity.

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).

By assessing the incidence of a particular mutation or the frequency at which certain genes / pathways are altered across multiple patients (of the same tumor type), it should be possible to identify key mutations.

Whole genome sequence data of the mutants with altered cell shape, directed mutants, wild type stocks and isolated helical and rod - shaped «wild type» C. jejuni, identified a number of different mutations in pgp1 and pgp2, which result in a change in helical to rod bacterial cell shape.

This type of congenital heart defect can be caused by a mutation in the gene TBX5, which is one of the genes essential for heart development.

The new Science study focused on the K36 mutation, which blocks the specialization in the type of stem cell that can form cartilage, bone and fat.

This provided the mechanism by which bacteria acquire immunity to specific viral infections, allowed introduction of specific mutations at desired sites, and provided the means to transfer efficient Cas9 - directed break, repair, and editing to any cell type.

Single amino acid mutations in mTOR are found in several types of human cancers, which confer constitutive activation of this autophagy negative regulator [10,11].

The Cancer Gene Census (CGC) database contains 547 such gene across various cancer types.5 Remarkably, few driver genes having specific point mutations appear to be sufficient to rewire signalling networks in cancer, 1 which at the same time shows that — at least from the mutational side — cancer does not consist of an «infinite» number of different diseases, and in many cases treatment options targeted against driver genes might be transferred from one case to the next.

X-rays and gamma rays are two other types of radiation — both of which are found naturally and in man - made devices like imaging tests, scanners, and certain power plants — that can cause DNA mutations, which may lead to cancer in the future.

PKU is caused by a mutation that is located on chromosome 12, although the specific type of mutation may vary, which results in severity that is variable among those with the PKU disorder.

Familial medullary thyroid cancer, which is a rare type of thyroid cancer, is caused by an inherited mutation in the RET proto - oncogene.

The scientists are also continuing to investigate mutations that occur in the tumors themselves (somatic mutations) and are profiling the susceptibility of specific tumor types to various chemotherapy compounds, which may lead to improved therapy options.

Dogs affected with Type I vWD have a mutation which allows normal vWF to be produced part of the time, so even dogs with two copies of the defective gene (affected dogs) have some minimal amount of normal vWF.

Evidence suggests that Type A PRA is in fact a rare form of PRA in the Miniature Schnauzer and that other, genetically distinct forms of PRA segregate within the breed, for which the mutations have yet to be identified [14].

The canine ADAMTS17 splice site mutation is shared by at least 17 different breeds, many of which are terriers or terrier - type breeds, but some of which have more diverse origins [132].

Achromatopsia type 2 - LR is inherited as an autosomal recessive trait, which means that only dogs that have inherited two copies of the CNGA3 mutation (one from each parent) will develop this form of ACHM.

Many types of phytoplankton do increase their numbers rapidly but they propagate primarily by asexual reproduction, which makes it less likely for populations to accumulate the genetic mutations that could allow them to adapt.

Research into emission mixes is made easier by new types of arrangements for experiments in which emission sources and the mutation chamber are located close to each other, as is the case in the ILMARI research unit of the University of Eastern Finland.

Fathers may have heritable physiological impacts on their children via genetic and epigenetic mechanisms that begin to emerge shortly after conception12 and which may influence maternal investment during pregnancy.13 Older fathers tend to transmit more mutations to their offspring, 14 while early childhood paternal stressors predict children's adolescent gene methylation patterns (a type of chemical modification of DNA).15