Sentences with phrase «single gene such»

Not exact matches

Almost immediately such familial genome sequencing proved its value, uncovering mutations responsible for diseases caused by defects in a single gene.

Scientists have shifted from studying single molecules to investigating large complexes of interacting biological macromolecules involved in processes such as metabolic pathways, gene expression, and development of disease.

Such plants have two mutant copies of a gene called hothead, which differ from the normal gene by a single base pair.

Using a combination of old - fashioned clinical observation and modern biochemical analysis, he has shown that a person's appetite and their eating behavior can be linked to specific genes — and that even a tiny defect such as the absence of a single nucleic acid in a sequence of DNA can lead to runaway weight gain.

No one is arguing that Lamarck got everything right, but over the past decade it has become increasingly clear that environmental factors, such as diet or stress, can have biological consequences that are transmitted to offspring without a single change to gene sequences taking place.

Inheriting a single X chromosome exposes men to a host of X-linked diseases, such as hemophilia or Duchenne muscular dystrophy, and researchers hope to use the new data to understand more fully the role of genes in other X-linked conditions.

Because such twins develop from a single fertilized egg, they have identical genes unless a mutation occurs.

These multigene interactions are subtler and knottier than the single gene drivers of diseases such as hemophilia and cystic fibrosis; spotting them calls for statistical inspiration and rigorous experiments repeated again and again to guard against introducing unproven gene tests into the clinic.

Within a single tumor exists such an astonishingly varied population of cells, each with its own combination of normal and abnormal genes, that at least some cells nearly always have a way to survive any particular attack.

The traits that Mendel studied in peas, such as pod shape, pea shape and pea color, were each associated with a single gene.

Rather than measuring genetic changes directly (such as single nucleotide polymorphisms, otherwise known as SNPs), McKee and her group typically do RNA expression profiles on patients to see what genes are being expressed.

The success with CF suggests that they can model other single - gene disorders, such as α - 1 antitrypsin deficiency, which causes symptoms primarily in the lungs and liver.

With the completion of the first phase of the Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene variations such as single nucleotide polymorphisms (SNPs), for the first time scientists have the tools in hand to find the key immune genes and genetic networks that play roles in vaccine response.

The genomics era has had a profound impact on life science research, leading to significant developments such as the use of expression quantitative trait loci (eQTLs), which link polymorphisms in single genes to quantifiable changes in gene expression associated with specific diseases.

On the other end of the spectrum are Mendelian diseases such as cystic fibrosis and sickle - cell anemia, which are caused by abnormalities to a single gene.

About 10 to 15 percent of people with autism have a disorder linked to a known single - gene mutation, such as fragile X syndrome, or chromosomal alterations.

As a result, researchers have tended to focus on point variations, such as the mutation or deletion of a single DNA letter within a gene.

They found a point mutation in the gene (a single altered base pair) in one of 91 randomly selected short individuals, and no such mutations in 300 people of average height — suggesting that about 1 % of all short people may carry a SHOX mutation.

In skin tumors the process can start with a change in a single gene, such as H - ras.

«But it's remarkable that lowering levels of a single gene could have such a strong effect on the disease.

Multiple gene - swapping events brought them together in a single killer strain, say the researchers; improving surveillance in humans and in swine could alert scientists to such events early in the future.

(This explains why rare single - gene diseases are more common in such groups; although studying such diseases is not the purpose of the East London study, it is the focus of another large U.K. study, the 100,000 Genomes Project.)

Individual screening tests can already identify silent carriers of many single faulty recessive genes — the kind that, when inherited in double (one copy from each parent), can lead to conditions such as cystic fibrosis and Tay - Sachs disease.

«The genome can give probabilities, not absolutes,» said Venter, pointing out that even inherited diseases with a strong, single - gene component, such as cystic fibrosis, aren't perfectly predicted by genetics.

Unlike some other common vision disorders, such as age - related macular degneration, color blindness is a heritable disorder caused by a single gene that is defective or absent.

Because of these limitations, the AAV approach is best suited for tissue culture based approaches that require modification of only a single allele of a gene, such as the introduction of heterozygous endogenous epitope tags, or the introduction of dominant mutations of a gene into the endogenous allele in cultured cells.

If you took high school biology in the 1990s, you probably learned about the molecular basis for human genetic disorders such as cystic fibrosis (1989), Huntingtons (1993), Duchenne and Becker muscular dystrophy (1987), and a rapidly growing list of single - gene disorders, and the correspondingly rapid growth in clinical diagnostic technology based on DNA sequence information, enabling certain diagnosis, sometimes before the advent of overt symptoms.

Sequencing accelerates the analysis of cancer associated alterations in genome sequence such as insertions and deletions, CNVs, inversions, duplications, translocations and gene fusions, as well as single nucleotide variants.

Because you have her whole genome, and not just a test for a single gene, you can potentially look for a vast number of other gene variants that raise the risk of other diseases of adulthood, such as the BRCA1 gene for breast cancer.

This approach, which relies on a few large families, can produce misleading results for a disorder such as ADHD which may involve several genes, unlike single - gene disorders such as cystic fibrosis or Huntington's disease.

Human pluripotent stem cells (hPSCs), including human embryonic stem cells (hESCs) and human induced pluripotent stem cells (hiPSCs), are known to be vulnerable to apoptosis upon various technical manipulation, such as single cell dissociation, freezing and thawing, etc., which hinder their use for clonal isolation in gene transfer, differentiation and FACS cell sorting.

Research Focus: I dedicate my time and effort to develop high - throughput sequencing technologies such as single cell transcriptomic, ChIP - Seq, ChIA - PET, and many more... The scientific rational is to understand better and with a different angle, the mechanisms of epigenetic regulation of gene expression in (rare) immune cells, pathologically relevant in many diseases such as asthma, SLE, tuberculosis...

A rare, premature aging disease, Hutchinson - Gilford progeria is caused by a single point mutation in the gene encoding lamin A, which forms a protein scaffold on the inner edge of the nucleus that helps maintain chromatin structure and organize nuclear processes such as RNA and DNA synthesis.

These so - called Mendelian disorders — single - gene diseases, such as cystic fibrosis, Huntington's disease, and many others, — have been studied for decades.

Phenotypes that result from changes (i.e., variants) in a single gene (i.e., monogenic) and that can be transmitted from parents to offspring in Mendelian patterns, such as autosomal dominant, autosomal recessive, X-linked, are known as Mendelian phenotypes.

In contrast to Mendelian disorders (e.g., Huntington's disease, sickle cell anemia) in which variation in a single gene causes disease, common complex disorders, such as heart disease, diabetes, and most cancers, develop as a result of both genetic and environmental factors.

Many scientists prefer to pursue cancer research through smaller - scale methods such as focusing on single genes.

That a single gene could fuel cancer's runaway proliferation in such different ways underscores the importance of SIRT6 and other chromatin factors.

The nucleases were capable of pushing out an undesirable trait in a plant — such as a gene for a chemical that acted as an environmental pollutant when consumed by livestock — and replacing it with a desirable trait, such as herbicide resistance, in a single shot.

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.

Such models aim to elucidate the contribution of single genes for protection against mutations, genomic instability, ageing and ageing related diseases such as canSuch models aim to elucidate the contribution of single genes for protection against mutations, genomic instability, ageing and ageing related diseases such as cansuch as cancer.

Feng's group is focusing first on conditions with the strongest human genetic data, such as Huntington's disease, in which a single gene causes a disorder, and using advanced neuroimaging technology and other tools to understand how the mutation causes brain circuits to misfire.

The present study shows that such a gradient is also seen at the level of single cell analysis, but reveals that there is considerable cell - to - cell variation within this gradient in the expression of pluripotency genes.

All nine of the new genes discovered had not previously been implicated in skeletal disorders and were discovered by randomly screening different strains of mice engineered such that a single gene had been inactivated in their genome.

However, if the purpose of such a scan is to identify candidate genes, then — as with single - gene studies — more detailed follow - up and functional validation of at least some of the key genes of interest are necessary to shore up the evidence.

The human DAO gene spans ≈ 10 kbp and is located on chromosome 7q35 (27) Various single - nucleotide polymorphisms (SNPs) in the DAO gene have been shown to be associated with inflammatory and neoplastic gastrointestinal diseases, such as food allergy (44), gluten - sensitive enteropathy, Crohn disease, ulcerative colitis, and colon adenoma (45 — 47).

Less than 2 % of diseases, such as cystic fibrosis, Huntington's chorea, and beta thalassemia, result from a single faulty gene, and only about 5 % of cancer patients can attribute their diseases to heredity.

It was such a striking signal pointing to a single gene a result you.

Contrast this with other types of outcomes that a single gene causes, such as Huntington's disease or cystic fibrosis.

It seems most molecular genetic approaches in relating heritability of personality characteristics such as criminality to a single gene frequently suffer from failures in replication.