Search results
Results from the WOW.Com Content Network
[20] [21] The homozygous H63D variant is an indicator of the iron metabolism disorder hemochromatosis, which may increase the risk of developing a fatty liver. [22] In patients with a cirrhotic liver, the mutation can increase the rate of liver cancer. [6] [23] [24]
The worldwide prevalence rates for H63D, C282Y and S65C (minor allele frequencies) are 10%, 3% and 1% respectively. [29] [30] [31] The C282Y allele is a transition point mutation from guanine to adenine at nucleotide 845 in HFE, resulting in a missense mutation that replaces the cysteine residue at position 282 with a tyrosine amino acid. [32]
At least 42 mutations involving HFE introns and exons have been discovered, most of them in persons with hemochromatosis or their family members. [25] Most of these mutations are rare. Many of the mutations cause or probably cause hemochromatosis phenotypes, often in compound heterozygosity with HFE C282Y. Other mutations are either synonymous ...
Under this model, cancer arises as the result of a single, isolated event, rather than the slow accumulation of multiple mutations. [4] The exact function of some tumor suppressor genes is not currently known (e.g. MEN1, WT1), [5] but based on these genes following the Knudson "two-hit" hypothesis, they are strongly presumed to be suppressor genes.
The COSMIC (Catalogue of Somatic Mutations in Cancer) database was designed to collect and display information on somatic mutations in cancer. It was launched in 2004, with data from just four genes, HRAS, KRAS2, NRAS and BRAF. [6] These four genes are known to be somatically mutated in cancer. Since its creation, the database has expanded rapidly.
A family of five was found shot to death Friday afternoon in a murder-suicide at a mobile home park in Lake Station, Indiana. Police said around 2:45 p.m., officers responded to a home in the 6700 ...
Microsoft founder Bill Gates is telling his “origin story” in his own words with the memoir Source Code, being released on Feb. 4 "My parents and early friends put me in a position to have a ...
Scientists at San Jose State University say that a large fire that burned at a battery plant in Monterrey County, California earlier this month has left heightened levels of heavy metals in a ...