Furthermore; patients with JAK2 V617F mutation have demonstrated recurrent episodes of venous thrombosis [ 5, 7, 8].
Lines manipulated by single gene mutation have demonstrated the power of iPS technology for disease modeling with possible therapeutic potential.
Single cell analysis of FLT3 mutations has demonstrated tumor heterogeneity as minor clones with different FLT3 ITD mutations in the same patient were detected; however, FLT3 mutations are regarded as late events in leukemogenesis, whereas NPM1 mutations should be early ones.
While naturally occurring mutations have demonstrated a central role for Oas in murine resistance to WNV infection, the radically different composition of the mammalian OAS gene clusters make it difficult to extend this conclusion.
More recent case series of patients with SLC12A3 mutations have demonstrated variability in urine calcium excretion [ 4, 23].
Further, BRCA2 mutations have demonstrated to have no significant occurrence in inherited epithelial ovarian cancer in Norway (Møller et al, 2001a).
Similarly, analyses of N-ethyl N-nitrosourENU -induceducedominantlyly inherited mouse mutations have demonstrated that enamelin is required for the initiation of mineral crystal formation during the early stages of enamel formation and the generation of full-thickness enamel (12, 13).
Autopsies of several patients with SLC9A6 mutations have demonstrated marked neuronal loss and gliosis of the globus pallidus, putamen, substantia nigra and cerebellar cortex associated with tau-containing filaments on ultrastructural examination (Garbern et al., 2010).
However, pathologic studies on prophylactic bilateral salpingo-oophorectomies in patients with germ-line BRCA mutations have demonstrated occult intraepithelial serous carcinomas in 17% of patients, primarily located in the fimbriated end of the fallopian tube [8].
Previous studies of the apoptotic response (AR) to radiation-induced DNA damage of lymphoid cells from individuals carrying germline TP53 mutations have demonstrated a defective AR compared with normal controls.
