Affiliation: Quest Diagnostics
- Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populationsMario Mikula
Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA
Genet Med 10:349-52. 2008..To determine the carrier frequency of familial Mediterranean fever (FMF) mutations of individuals in three different US testing populations: Cystic fibrosis, Factor V Leiden, and Ashkenazi Jews...
- The importance of β globin deletion analysis in the evaluation of patients with β thalassemiaM Mikula
Department of Molecular Genetics, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA 96690, USA
Int J Lab Hematol 33:310-7. 2011..Our purpose was to develop a robust assay for beta globin deletion/duplication analysis and determine its role in evaluating patients with beta thalassemia...
- beta-Catenin and TGFbeta signalling cooperate to maintain a mesenchymal phenotype after FosER-induced epithelial to mesenchymal transitionAndreas Eger
Max F Perutz Laboratories, University Departments at the Vienna Biocenter, Department of Medical Biochemistry, University of Vienna, Vienna, Austria
Oncogene 23:2672-2680. 2004..These results demonstrate that loss of E-cadherin can contribute to increased LEF/TCF-beta-catenin signalling, which in turn cooperates with autocrine TGFbeta signalling to maintain an undifferentiated mesenchymal phenotype...