In contrast, I-CXCL10 binding was extremely sensitive to mutation, with several mutants displaying significantly reduced ligand binding, notably the D112N, D195N and E196Q mutants.
After we or others study additional mutants identified in the present study, it is our hope that mice can be vaccinated with a single strain engineered to include several such mutations, along with several that impose auxotrophies to prevent the mutant from replicating in the host [74].
Mutations of TET1 or TET3 are not observed in MDS nor does the TET2 mutation correlate with several other known common mutations [ 68].
Clinically, the four patients identified by Bainbridge et al. with de novo ASXL3 mutations presented with several features similar to BOS (Table 1).
Apart from established clinicopathological parameters, we have also examined associations of KRAS and BRAF mutation status with several other investigative factors, i.e. beta-catenin overexpression and expression of p53, p21, p27 and cyclin D1.
Authors investigating large numbers of strains from human outbreaks reported high clonal stability within outbreaks [ 2, 31], whereas investigations on cattle farms suggest a fairly rapid mutation rate, with several, only slightly different, XbaI banding patterns found in cattle isolates from the same farm [ 8, 18].
COL1A2, COL3A1, COL5A2 are a group of collagen genes in which mutations are associated with several connective diseases such as the involvement of COL3A1 mutations in intracranial aneurysms and Ehlers-Danlos syndrome type IV with aortic and arterial aneurysms [ 61, 62].
SOX2 has no known isoforms to date, but SOX2 gene mutations are associated with several human diseases, such as anopthalmia, optic nerve hypoplasia, and other ocular disorders.
Constitutional DNA samples from individuals without MEN1 mutations were digested with several restriction enzymes, Southern blotted and probed with MEN1 cDNA to analyse for the presence of larger deletions of the MEN1 gene unable to be detected by PCR.
