Sentences with phrase «few gene mutations»

Not exact matches

This team also discovered 3,200 genes that had fewer loss - of - function or missense mutations than would be expected suggesting that these are likely disease - causing variants that are rare or absent in the population because of their detrimental effect on human health.

For instance, people who have low cholesterol their entire lives — such as those born with a mutation in a gene called PCSK9 — suffer far fewer heart attacks than people who lower their cholesterol only later in life.

Although juvenile glaucoma accounts for fewer than 1 % of all cases, early indications are that mutations in the TIGR gene are behind at least 3 % of adult - onset cases as well.

And although a few studies had shown a link between birthwort and either upper urinary tract cancer or kidney disease, they had only traced the mechanism as far as mutations on one gene: P53, a gene commonly associated with cancer.

A few years ago, Jihye Yun, then a graduate student at Johns Hopkins University in Baltimore, Maryland, found that colon cancer cells whose growth is driven by mutations in the gene KRAS or a less commonly mutated gene, BRAF, make unusually large amounts of a protein that transports glucose across the cell membrane.

In a 2007 paper published in The Journal of Allergy and Clinical Immunology Poland and his colleagues reported that people who have mutations in a gene for a protein called SLAM produce 70 percent fewer antibodies after live measles inoculation than people without the mutation.

For example, they identified SNVs in genes encoding the collagen proteins that make up bone and cartilage, and in genes where other mutations have caused defects similar to Ata's, such as fewer - than - normal ribs or short stature.

Evolutionary tree diagrams, which take into account mutation rates, suggest that the few F promoters found in mice today are remnants of L1 genes that were active between 5 and 10 million years ago.

Geneticists usually prefer to study genes that are easy to mutate so that work can be replicated or varied, but only one lin - 4 mutation had ever been observed, in Brenner's Cambridge lab a few years earlier.

They have seen this happen before: In the seasonal H1N1 strain, resistance has become rampant the past few years, thanks to a mutation in the virus's neuraminidase gene called H274Y.

Patients with these mutations do not fare as well long term as those without mutations, or, patients with mutations in a few other apparently favorable genes (BCOR and PIGA, for example).

Scientists have known for a few years that a mutation in a gene coding for the protein troponin T is associated with the disease.

He has spent the past few years comparing chimp genes with our own, trying to reconstruct the crucial mutations responsible for our differences.

A few people turned out to have either the Amish APOC3 mutation or one of three other variants in APOC3 that also disable this copy of the gene.

Rather than being triggered by a single gene mutation, the tumors are caused by too many or too few copies of a gene in a person's cells.

The study, whose first author is the quantitative biologist Ivan Iossifov, a CSHL assistant professor and on faculty at the New York Genome Center, finds that «autism genes» - i.e., those that, when mutated, may contribute to an ASD diagnosis - tend to have fewer mutations than most genes in the human gene pool.

And, how few mutations can give rise to new features of gene expression?

A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes.

A few years ago, Jolie had her breasts and ovaries removed after she found out she had a breast - cancer gene mutation that sharply increased her risk of cancer.

Dr. Eng stressed that BRCA mutations affect few people when considering the general population; between 5 and 10 percent of breast cancer is due to mutations in the BRCA1 and BRCA2 genes.

Over the past few decades it has become increasingly clear that epigenetic changes - heritable changes in the cell that do not result from DNA sequence alteration - may be just as important as gene mutations in cancer development.

With PrediXcan, validation studies only need to test a few thousand genes at most, instead of millions of potential single mutations.

Many people with Cowden Syndrome, Bannayan - Riley - Ruvalcaba Syndrome, and a few other genetic conditions have been found to have PTEN gene mutations as the cause of their medical concerns.

«Our work suggests that a few advantageous mutations are enough to cause a «tug - of - war» between natural selection and gene flow, which can lead to rapidly diverging genomes,» Kronforst said.

«These results indicate the NTRK fusion genes might be very potent drivers of cancer development that have the ability to generate tumors with few other mutations,» said co-corresponding author Suzanne Baker, Ph.D., a member of the St. Jude Department of Developmental Neurobiology.

Krogan believes that mutations in a few key networks of genes cause diseases like cancer, even though the individual genes that are mutated in tumors vary between different people and different types of cancer.

Eight HARs showed differences in their enhancer activity when the human mutations were present.4 These differences modify how genes were expressed in the developing limb (HAR2, 2xHAR114), eye (HAR25), and central nervous system (2xHAR142, 2xHAR238, 2xHAR164, 2xHAR170, ANC516 / HARE5).4, 10 Because relatively few time points have been examined, it is likely that an even higher percentage of the tested HARs are active enhancers at some point during embryonic development or in adult tissues, possibly with human - chimp differences.

This new research uncovered the reason, finding four times fewer mutations in HPV - related cancers than non-HPV-related cancers and no mutations to the common cancer - related p53 gene.

Mutations in the genes that control T cells can result in fewer T cells or ones that do not function properly.

There are a few different types of known mutations of this gene that are linked to hereditary pancreatitis.

Although a few mutations of genes are strong enough to cause cancer by themselves, «this was the first time a histone gene mutation was demonstrated to cause cancer by itself,» Lewis says.

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 nGene 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 ngene 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.

Few diseases result from a single gene mutation.