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In this research, a rapid and simple method for genotyping the most common mutant alleles in the Asian population (CYP2D6*1/*1, CYP2D6*1/*10, CYP2D6*10/*10, CYP2D6*1/*5, CYP2D6*5/*10, and CYP2D6*5/*5) was developed by allele-specific polymerase chain reaction (AS-PCR) combined with capillary electrophoresis (CE).
In previous studies using the Ba/F3 pro-B cell line, and COS-7 cells expressing the WT and truncated G-CSFR forms, we demonstrated that ligand internalization and down-modulation of G-CSFR expression were impaired in cell lines expressing the Δ716 G-CSFR, which is the most common mutant G-CSFR form identified in patients with AML and antecedent SCN [17].
In order to make a preliminary assessment of the potential functional impact of 3'UTR MSI, we analyzed the predicted RNA secondary structure and free energy for the wild type and the most common mutant of the T11 repeat in RB1CC1, the A10 repeat in NUAK1, and the T10 repeat in RTF1 (Table 2).
EGFRvIII is the most common mutant of EGFR gene reported in GBM.
The most common mutant residues were R, C, and P, of which arginine is the most common.
Mutant FGFR3 has been validated in vitro as a potential therapeutic target in bladder cancer, by siRNA knockdown of the most common mutant forms, S249C and Y375C (Bernard-Pierrot et al, 2006; Tomlinson et al, 2007b).
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In a recent meta-analysis of 43 studies enroling 11 582 patients with chronic HBV infection, BCP T1762T/A1764 mutant is the most common mutation that is statistically significantly associated with the development of HCC; the presence of BCP T1762/A1764 mutant is associated with an odds ratio of 3.79 for HCC development (Liu et al, 2009).
Certainly, therapies directed at addressing the misfolding defect in the most common CFTR mutant, and other mutant forms, by targeting the associated chaperone system would simplify the clinical approach.
The most common NUAK1 mutant, A9, did not affect either RNA secondary structure or free energy.
The most common RTF1 mutant, T9, altered both free energy and predicted RNA structure (data not shown).
The most common RB1CC1 mutant, T10, greatly altered its predicted 3'UTR RNA secondary structure (Figure 3).
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