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Tag: "mutation" at biology news

Researchers find gene mutation that causes infertility in male mice

...hope with Cornell researchers' identification of a mutation in a gene that causes male infertility in mice. Because this is the first time that a dominant mutation that leads specifically to infertility in a mammal has been discovered, the researchers say they can...

Gene elevating breast cancer risk also causes prostate cancer

...sh breast cancer families. The same constitutional mutation in PALB2 was observed in three families. It was la...esponses in which PALB2 normally participates. The mutation was further also investigated in 1,918 specimens from an unselected series of Finnish breast cancer ...

Genetic pathways to curable and incurable forms of pancreatic cancer identified

...y showed that the combination of Kras and an early mutation of Dcp4, in which one copy of the suppressor gene is eliminated, lead to cancer by a different path, beginning with the creation of a distinct class of precancerous lesions in the ductal epithelium called mucinous cystic neoplasms (MCN). This initiat...

Angelman syndrome deficits rescued in mice

... determined that Angelman syndrome was caused by a mutation in a single gene, called UBE3A. They subsequently ...Rotterdam, Netherlands ?had created a mouse with a mutation that prevented this inhibition of CaMKII. The researchers decided to breed the Angelman mice with...

Gene that makes people 'early to bed and early to rise' demystified

... mirror those in people with FASPS. In contrast, a mutation that mimicked an increase in phosphorylation at amino acid 662 increased the transcription of PER2 and pushed the animals' sleep pattern later. Their studies in mice revealed that the amino acid change associated with FASPS, which alters the charge...

Bioluminescence at the service of a novel cerebral imaging technique

... has recently been shown that flies endowed with a mutation of the insulin receptor live much longer. It is also possible to exploit the powerful genetic tools of the Drosphila to study and compare these maps in flies bearing different mutations, or in flies which serve as models for a variety of human patho...

Breakthrough in understanding type-2 diabetes as key genes identified

...h revealed that people with type-2 diabetes have a mutation in a particular zinc transporter known as SLC30A8, which is involved in regulating insulin secretion. Type-2 diabetes is associated with a deficiency in insulin and the researchers believe it may be possible to treat it by fixing this transporter. ...

Genes and biomarkers that allow doctors to choose the right therapy for the right patient

...and decrease a patient’s quality of life. KRAS mutation in colorectal cancer is a predictive factor of res...th cetuximab, including in tumors without the KRAS mutation that do not respond to the drug. Recombinant peptides as biomarkers for cancer response to tyro...

How genetic malfunction causes a form of retardation

...roximately 50% of NS cases are caused by a genetic mutation in a biochemical switch called SHP-2. SHP-2 is inv...nd mouse embryos, they found that the same kind of mutation in SHP-2 that can be found in NS patients disrupts the neuron-glial balance by further promoting the...

Penn study on lung-infecting bacterial enzyme suggests new approach to cystic fibrosis treatment

...ms did not match the pathological effect of the CF mutation alone. The study was published this month in the Proceedings of the National Academy of Sciences. The research, conducted by Zhe Lu, MD, PhD; Yajamana Ramu, PhD; and Yanping Xu, MD, PhD, of the Department of Physiology, shows that the bacterial en...

UCLA scientists design masks to hide genetic mutations from cell

...el way to correct abnormal gene splicing ?a common mutation that often leads to disease. Splicing edits out the punctuation from a cell’s genetic blueprint, enabling its code to dictate protein production by the cell. Using new technology made by Gene Tools of Oregon, the researchers designed a custom mask ...

New bird, bat species revealed by extensive DNA barcode studies

... and 19, will deliver a talk about how cancer cell mutation and selection are metaphorically similar to how a ...ng the number of genes responsible for spontaneous mutation rates in yeast, and in our first random sample we discovered that one-third of them control the muta...

Cancer that colonizes our bodies

... and 19, will deliver a talk about how cancer cell mutation and selection are metaphorically similar to how a ...ng the number of genes responsible for spontaneous mutation rates in yeast, and in our first random sample we discovered that one-third of them control the muta...

Brain networks strengthened by closing ion channels

...stress. "We find it remarkable to relate a genetic mutation in patients to the regulation by an ion channel of PFC neuronal networks," said Arnsten. ...

Severe mental retardation gene mutation identified

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics. Investigators F. Lucy ...

Scientists identify a gene that may suppress colorectal cancer

...d levels of Atp5a1 gene expression, is the first mutation identified in the mouse Atp5a1 gene. In trypanosomes (tiny parasitic protozoa that cause African sleeping sickness), the loss of Atp5a1 gene function leads to death. To date, no mutations in the human ATP5A1 gene have been identified—further ...

Mitochondrial genes move to the nucleus -- but it's not for the sex

...mes replicate separately, and a new and beneficial mutation in the mitochondrion could be separated from partner genes in the nucleus -- in the production of eggs or pollen, via meiosis. But the mating system determines whether or not this separation is permanent. With self-pollination, the components separat...

MicroRNA helps prevent tumors

...ed by microRNAs, can help give rise to tumors if a mutation in the gene disrupts the microRNA's ability to regulate it. In addition, the results show that the interaction of one microRNA with one of its target genes can produce a certain trait in mammals. This is important because scientists are only beginnin...

2,000 influenza virus genomes now completed and publicly accessible

...ever, because the influenza virus is prone to high mutation rates when it replicates, and these mutations can alter the virus enough that vaccines against one strain may not protect against another strain. An even greater concern is the potential for an influenza pandemic caused by the emergence of a new,...

Short chromosomes put cancer cells in forced rest

...ce with nonoperating telomerase to mice carrying a mutation that predisposed them to Burkitt’s lymphoma, a rare but aggressive cancer of white blood cells. Telomerase helps maintain the caps or ends of chromosomes called telomeres, which shrink each time a cell divides and eventually - when the chromosomes ge...

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