Elevated mRNA expression of CHAC1 splicing variants is associated with poor outcome for breast and ovarian cancer patients

Goebel,G.; Berger,R.; Strasak,A.M.; Egle,D.; Müller-Holzner,E.; Schmidt,S.; Rainer,J.; Presul,E.; Parson,W.; Lang,S.; Jones,A.; Widschwendter,M.; Fiegl,H.; Background:The role of CHAC1 (cation transport regulator-like protein 1), a recently identified component of the unfolded protein response (UPR) pathway, in gynaecological cancers has not yet been characterised. Now, this work illustrates CHAC1 mRNA expression and associated clinical outcome in breast and ovarian cancer.Methods:The prognostic value of CHAC1 and its two transcript variants was investigated in 116 breast and 133 ovarian tissues using quantitative real-time reverse-transcriptase PCR. [Read More]

European Network of Forensic Science Institutes (ENFSI): Evaluation of new commercial STR multiplexes that include the European Standard Set (ESS) of markers

Welch,L.A.; Gill,P.; Phillips,C.; Ansell,R.; Morling,N.; Parson,W.; Palo,J.U.; Bastisch,I.; To support and to underpin the European initiative to increase the European set of standard markers (ESS), by the addition of five new loci, a collaborative project was organised by the European Network of Forensic Science Institutes (ENFSI) DNA working group in order to assess the new multiplex kits available. We have prepared allele frequency databases from 26 EU populations. Concordance studies were carried out to verify that genotyping results were consistent between kits. [Read More]

Evaluation of the performance of a tandem mass spectral library with mass spectral data extracted from literature

Wurtinger,P.; Oberacher,H.; MSforID represents a database of tandem mass spectral data obtained from (quasi-)molecular ions produced by atmospheric pressure ionization methods. At the current stage of development the library contains 12 122 spectra of 1208 small (bio-)organic molecules. The present work was aimed to evaluate the performance of the MSforID library in terms of accuracy and transferability with a collection of fragment ion mass spectra from various compounds acquired on multiple instruments. [Read More]

Forensic and phylogeographic characterisation of mtDNA lineages from Somalia

Mikkelsen,M.; Fendt,L.; Rock,A.W.; Zimmermann,B.; Rockenbauer,E.; Hansen,A.J.; Parson,W.; Morling,N.; The African mitochondrial (mt) phylogeny is coarsely resolved but the majority of population data generated so far is limited to the analysis of the first hypervariable segment (HVS-1) of the control region (CR). Therefore, this study aimed on the investigation of the entire CR of 190 unrelated Somali individuals to enrich the severely underrepresented African mtDNA pool. The majority (60.5 %) of the haplotypes were of sub-Saharan origin with L0a1d, L2a1h and L3f being the most frequently observed haplogroups. [Read More]

Formation and characterization of covalent guanosine adducts with electrochemistry-liquid chromatography-mass spectrometry

Plattner,S.; Erb,R.; Pitterl,F.; Brouwer,H.J.; Oberacher,H.; Chemicals can interact with the genetic material giving rise to the formation of covalent adducts. These alterations can lead to adverse consequences, including cancer, reproductive impairment, development anomalies, or genetic diseases. In search for an assay allowing identification of hazardous compounds that might form covalent adducts with nucleic acids, electrochemistry (EC)/liquid chromatography (LC)/mass spectrometry (MS) is presented. EC/LC/MS is a purely instrumental approach. EC is used for oxidative activation, LC for the fractionation of the reaction mixture, and MS for the detection and characterization of the reaction products. [Read More]