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Some people might learn they have increased susceptibility to malignant hyperthermia, a hereditary mutation that can be fatal because it causes a severe reaction to certain medications used during anesthesia.
The mechanism of amyloidogenesis is quite variable, including hereditary mutation, protein overproduction and decreased protein excretion.
The mechanisms of amyloidogenesis in these cases are variable and include abnormal protein production, overproduction or decreased excretion of wild-type proteins and hereditary mutation.
R155 is the most common hereditary mutation and is located in the CDC48 homology domain, which is a protein interaction module that plays an important role in VCP substrate binding (Ju and Weihl, 2010).
In the majority of primary osteosarcomas, the aetiology is unknown, but, for a minority, it occurs in the setting of a previous cancer, such as a hereditary mutation of retinoblastoma or an autosomic recessive mutation of p53 in the Li-Fraumeni syndrome (Huvos et al, 1977; Malkin et al, 1990; Alonso et al, 2001).
Mice carrying a hereditary mutation in the APC gene (min-mice or transgenic ΔAPC-mice; (de Wind et al, 1998) develop a multitude of intestinal polyps in a COX-2 and prostaglandin E2 (PGE2 -receptor-dependent PGE2 -receptor-dependent PGE2 -receptor-dependentayama et al, 2002).
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Some people carrying hereditary mutations in RET will develop medullary thyroid carcinoma at a young age.
Some prion diseases are caused by hereditary mutations in the gene encoding this protein.
As follows from this review, neither the reliable spectrum of mtDNA somatic mutations nor the association between hereditary mutations and colorectal cancer risk have been resolved.
On page 1159, Sandra Hanks and colleagues4 report hereditary mutations in BUB1B in individuals with a rare recessive disease called mosaic variegated aneuploidy (MVA) and provide such an important piece of evidence.
During the late 1950s and early '60s Arber and several others extended the work of an earlier Nobel laureate, Salvador Luria, who had observed that bacteriophages (viruses that infect bacteria) not only induce hereditary mutations in their bacterial hosts but at the same time undergo hereditary mutations themselves.
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