Kinase mutation

Wang L, Knight K, Lueas C et al. The role of serial BCR-ABL transcript monitoring in predicting the emergence of BCR-ABL kinase mutations in imatinib-treated patients with chronic myeloid leukemia. Haematologica 2006 91 235-239. 

Ghosh, S., Moore, S., Bell, R. M., and Dush, M. (2003). Functional analysis of a phosphatidic acid binding domain in human Raf-1 kinase Mutations in the phosphatidate binding domain lead to tail and trunk abnormalities in developing zebrafish embryos. J. Biol. Chem. 278, 45690-45696. 

Arad, M., Benson, D. W., Perez-Atayde, A. R., McKenna, W. J., Sparks, E. A., Kanter, R. J., McGarry, K., Seidman, J. G. and Seidman, C. E., 2002, Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy, J Clin Invest, 109, pp 357-62. 

Frobert E, OokaT, Cortay JC, et al. Herpes simplex vims thymidine kinase mutations associated with resistance to acyclovir a site-directed mutagenesis smdy. Antimicrob Agent Chemother 2005 49(3) 1055-1059. 

Heinrich MC, Corless CL, Demetri GD, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. / Clin Oncol. 2003 21 4342-4349. 

Figure 5.5 The RAS-RAF-MEK pathway, showing mechanisms of b-Raf resistance that have been proposed based on tumor sequencing studies. These include pathway reactivation due to over expression of Cot kinase, mutations that affect RAS (especially the N-RAS isoform) and cause reactivation, possibly through Raf-1 homodimers, and overexpression of PDGFRB that might affect MEK signaling or may proceed via alternative pathways.123...

Elkins, T., Zinn, K., McAllister, L., Hoffmann, F.M. and Goodman, C.S. (1990b) Genetic analysis of a Drosophila neural cell adhesion molecule interaction of fasciclin I and abelson tyrosine kinase mutations. Cell 60 565-575. 

Cidofovir resistance in CMV is due to mutations in viral DNA polymerase. Low-level resistance to cidofovir develops in up to 30% of retinitis patients by 3 months of therapy. Highly ganciclovir-resistant CMV isolates that possess DNA polymerase and UL97 kinase mutations are resistant to cidofovir, and prior ganciclovir therapy may select for cidofovir resistance. Some fos-carnet-resistant CMV isolates show cross-resistance to cidofovir, and triple-drug-resistant variants with DNA polymerase mutations occur. 

Foote The pyruvate kinase mutation was also a de novo mutation, so the two you have identified were essentially de novo mutations that you would have been able to identify even in the absence of having these recombinant strains. Is that... 

The RET proto-oncogene located on chromosome 10 codes for a transmembrane tyrosine kinase. Mutations at codon 634 are directly associated with multiple endocrine neoplasia type 2A and medullary thyroid carcinoma. If children are diagnosed to carry such a mutation, cancer can be prevented by removal of the thyroid gland. Accuracy and reliability of the diagnostic assay is critical here as in... 

Lahiry, R, Torkamani, A., Schork, N.J., and Hegele, R.A. (2010) Kinase mutations in human disease interpreting genotype-phenotype relationships. Nat. Rev. Genet, 11, 60-74. 

The age of onset is typically in early adulthood. In the Middle Eastern Jewish population (based on data from about 140 patients, all homozygous for the kinase mutation M712T and aU examined personally by ZA) the age of first symptom was estimated to be 30 6 years (mean SD). It should be... 

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