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Latest Mutation Stories

Rare Gene Mutation Identified That Sheds Light On Protein's Role In Brain Development
2013-10-16 16:43:32

Duke University Medical Center Though worlds apart, four unrelated families have been united in a medical mystery over the source of a rare inherited disorder that results in their children being born with abnormal brain growth and severe functional impairments. An international team of scientists, led by genetic researchers at Duke Medicine, has solved the case by identifying a recessive gene mutation that reduces the abundance of a certain protein that previously had not been known to...

2013-10-14 11:18:08

Researchers identify key proteins that help establish cell function Researchers at the University of California, San Diego School of Medicine have developed a new way to parse and understand how special proteins called "master regulators" read the genome, and consequently turn genes on and off. Writing in the October 13, 2013 Advance Online Publication of Nature, the scientists say their approach could make it quicker and easier to identify specific gene mutations associated with...

Genetic Variation Fuels Testicular Cancer
2013-10-11 04:33:32

Brett Smith for redOrbit.com - Your Universe Online Using a genomic analysis, a team of international researchers has identified a specific mutation responsible for a dramatic increase in the risk for testicular cancer. The mutation is a single-base change to the genetic code that affects the activity of the p53 protein that is responsible for regulating the activity of a large number of genes, including those responsible for protection from UV rays – according to the team’s report...

2013-10-08 13:50:38

The unique genomic signature could serve as a research model for founding events Researchers at the Sainte-Justine University Hospital Center and University of Montreal have discovered that the genomic signature inherited by today's 6 million French Canadians from the first 8,500 French settlers who colonized New France some 400 years ago has gone through an unparalleled change in human history, in a remarkably short timescale. This unique signature could serve as an ideal model to study...

2013-10-08 10:38:51

Researchers develop a first-of-its-kind mathematical model for the biological process that keeps your immune system working Scientists at USC have created a mathematical model that explains and predicts the biological process that creates antibody diversity – the phenomenon that keeps us healthy by generating robust immune systems through hypermutation. The work is a collaboration between Myron Goodman, professor of biological sciences and chemistry at the USC Dornsife College of...

2013-09-30 10:17:55

As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis. The parents of this first patient sought genetic testing for Prader-Willi syndrome when he was only a year old, but the test, which was still in its infancy, came back negative. For the next 12 years, his parents were left in limbo. He had many features of the disease – including lack of muscle tone, feeding difficulties...

2013-09-26 13:11:00

Sometimes, when the DNA in a cell is copied during cell division, there is a mistake. A large portion of the genetic material could be duplicated or deleted. In each instance, there is often a greatly enhanced potential for serious genetic disease. Such changes are known as copy number variation (CNV) referring to the numbers of copies of a gene. Instead of ‘letters of the DNA alphabet’ being changed or missing, whole sentences, entire paragraphs or even pages/volumes of the encyclopedia...

2013-09-12 13:30:43

Japanese researchers have identified a mutation associated with a higher incidence of lung cancer in Japanese women who do not smoke, but better survival in lung cancer patients. In a study published today in the journal PLOS ONE, the team from the RIKEN Center for Life Science Technologies shows that a single nucleotide polymorphism (SNP) in a gene that protects cells from oxidative stress is found four times more frequently in women than in men. Lung cancer is the leading cause of...

2013-09-09 11:32:11

Discovery provides target to potentially halt the process, prevent cancers Biologists reported today in Nature that they have identified two pathways through which chromosomes are rearranged in mammalian cells. These types of changes are associated with some cancers and inherited disorders in people. "Our finding provides a target to prevent these rearrangements, so we could conceivably prevent cancer in some high-risk people," said senior author Edward P. (Paul) Hasty, D.V.M., of the...


Word of the Day
vermicular
  • Like a worm in form or movement; vermiform; tortuous or sinuous; also, writhing or wriggling.
  • Like the track or trace of a worm; appearing as if worm-eaten; vermiculate.
  • Marked with fine, close-set, wavy or tortuous lines of color; vermiculated.
  • A form of rusticated masonry which is so wrought as to appear thickly indented with worm-tracks.
This word ultimately comes from the Latin 'vermis,' worm.
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