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To assess the value of anti-isocitrate dehydrogenase 1 (IDH1) immunohistochemistry for evaluating diffuse gliomas, we analyzed anti-IDH1-R132H immunohistochemistry using monoclonal antibodies DIA-H09 and IMab-1 and IDH1 gene sequencing in formalin-fixed and paraffin-embedded biopsy samples of 95 diffuse gliomas. We found concordant immunostaining results(More)
The gene PRT1 of Arabidopsis, encoding a 45-kD protein with two RING finger domains, is essential for the degradation of F-dihydrofolate reductase, a model substrate of the N-end rule pathway of protein degradation. We have determined the function of PRT1 by expression in yeast (Saccharomyces cerevisiae). PRT1 can act as a ubiquitin protein ligase in the(More)
BACKGROUND The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis, and technical advances. We tested for Gaucher's disease, Pompe's disease, Fabry's disease, and Niemann-Pick disease types A and B in an anonymous prospective(More)
PURPOSE ETV1 has been proposed to be activated by KIT mutations in gastrointestinal stromal tumors (GIST). The aim of the study was to evaluate the clinical role of ETV1 and associated proteins in GIST. EXPERIMENTAL DESIGN Expressions of ETV1, MAPKAP kinase 2 (MAPKAPK2), phosphorylated p38 MAP kinase (pp38), phosphorylated MSK1 (pMSK1), phosphorylated(More)
OBJECTIVE To evaluate global and single gene methylation patterns as a sign for epigenetic modulation of the immune system in infants born by elective cesarean section (CS) and vaginal delivery (VD). STUDY DESIGN For this prospective pilot study a two step approach was chosen. Initially 41 newborn infants comprising 23 delivered by VD and 18 delivered by(More)
Nodal marginal zone lymphoma (NMZL) is a primary nodal B-cell lymphoma that shares morphological and immunophenotypic characteristics with extranodal and splenic marginal zone lymphoma. Data on altered genes and signaling pathways are scarce in this rare tumor entity. To gain further insights into the genetic background of NMZL, seven cases were(More)
OBJECTIVE To investigate the association between two genetic variations in the Interleukin-1 beta (IL1B) gene and preterm birth. STUDY DESIGN In this case-control study we tested the allelic distribution of two of its common polymorphisms (IL1B +3953C>T [rs1143634], IL1B -511C>T [rs16944]) in one hundred women with preterm birth and one hundred healthy(More)
OBJECTIVE To evaluate the usefulness of chromosome microarrays as a second-tier test in prenatal genetic testing. METHODS We prospectively analyzed 75 high-risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a common non-mosaic autosomal aneuploidy. RESULTS Chromosomal(More)