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Because the mutations of gene NOTCH1 have been often observed in human T-ALL, we decided to check the mutational status of NOTCH1 in our transgenic model.
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A closer look yields the observation that a hydrogen bond is added between D313 and N326 because of the mutations of Tmod1[DDD].
The functionally important residues within a disordered region tend to be a small percentage of the total number of residues and so their conservation tends to be obscured because of the mutations of surrounding residues.
As Matje et al. mentioned, this "hinge" may aid the refolding process because the mutation of Gly98 is believed to affect the base flipping process [ 51].
Because the mutation of the p53 gene occurs in more than half of human tumors, all of the earlier cloned p53 cDNAs from these tumor cells had mutations that either disrupted the activity of p53 or made p53 oncogenic.
Third, two components in a linear essential pathway may be SL partners, because the mutation of each component decreases the flow through the pathway but the pathway still has signal flow, whereas the mutation of both will destroy the pathway.
Because the mutation of S183 or T185 changes the oligomerization pattern of M1 (Fig. 3), the oligomerization pattern of M1, in turn, determined the organization of the matrix layer and the morphology of virions.
The composition of the B pocket of the HLA-B27 HC has been shown to determine the folding efficiency and misfolding phenotype of the HLA-B27 HC, because the mutation of certain amino acid residues in the B pocket enhances the folding kinetics of the HLA-B27 HC and prevents the misfolding of the molecule [ 17, 23].
The study has shown that that rs2273346 and rs6695096 of MASP-2 genes can increase susceptibility to TB, possibly because the mutation of rs2273346 (p.V377A) (TC, CC) and rs6695096 (TC, CC) can lead to decreased serum MASP-2 concentration and possibly decreased activity of MASP-2, and subsequently impairing the body immune function and increasing the risk of TB.
This observation was in accordance to experimental site-directed mutagenesis studies [22], where the enzymatic activity was abolished because of the mutation of one or more of these residues.
This yeast mutant type is very sensitive to Zn deprivation because of the mutation of their both high (ZRT1)- and low (ZRT2 -affinity ZRT2 -affinityems [ 19, 20].
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