Genomes and Genes
- HNPCC: six new pathogenic mutationsErdmute Kunstmann
Human Genetics, University of Bochum, Bochum, Germany
BMC Med Genet 5:16. 2004..HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6...
- Involvement of cathepsin H in the processing of the hydrophobic surfactant-associated protein C in type II pneumocytesFrank Brasch
Division of Electron Microscopy, Department of Anatomy, University of Gottingen, Germany
Am J Respir Cell Mol Biol 26:659-70. 2002....
- Surfactant protein B in type II pneumocytes and intra-alveolar surfactant forms of human lungsFrank Brasch
Department of Anatomy, University of Gottingen, Gottingen, Germany
Am J Respir Cell Mol Biol 30:449-58. 2004..In human lungs, mature SP-B is involved in the structural organization of lamellar bodies and tubular myelin by the formation of core particles...
- Involvement of napsin A in the C- and N-terminal processing of surfactant protein B in type-II pneumocytes of the human lungFrank Brasch
Department of Anatomy, University of Gottingen, Kreuzbergring 36, D 37075 Gottingen, Germany
J Biol Chem 278:49006-14. 2003..Two of the four processing products generated in vitro were also detected in type-II pneumocytes. In conclusion, our results show that napsin A is involved in the N- and C-terminal processing of proSP-B in type-II pneumocytes...
- [Classification of pulmonary alveolar proteinosis in newborns, infants, and children]F Brasch
Institut fur Pathologie, Berufsgenossenschaftliche Kliniken Bergmannsheil Bochum
Pathologe 25:299-309. 2004....
- Interstitial lung disease in a baby with a de novo mutation in the SFTPC geneF Brasch
Institute of Pathology, University Hospital Bergmannsheil, Bochum, Germany
Eur Respir J 24:30-9. 2004..This report heralds the emerging diversity of phenotypes associated with the expression of mutant surfactant C proteins...
- Surfactant proteins in pulmonary alveolar proteinosis in adultsF Brasch
Institute of Pathology, University Hospital Bergmannsheil, Buerkle de la Camp Platz 1, D 44789, Bochum, Germany
Eur Respir J 24:426-35. 2004....
- [Rare pulmonary occupational diseases--importance of microanalytical examination]Fank Brasch
Institut fur Pathologie, Berufsgenossenschaftliche Kliniken Bergmannsheil, Universitätsklinik Ruhr Universität Bochum, Bochum, Deutschland
Wien Klin Wochenschr 116:18-24. 2004..Using the example of silver finisher's lung, dental technician's lung and talcosis, the connections between foreign particle deposits in lung tissue and granulomatous and fibrosing pulmonary changes are shown...
- Adult polyglucosan body disease: a postmortem correlation studyE Sindern
Department of Neurology, BG Kliniken Bergmannsheil, Ruhr University, Bochum, Germany
Neurology 61:263-5. 2003..GBE activity was decreased in the morphologically affected tissues but was normal in unaffected tissues. GBE mRNA transcripts were similar in all tissues and in controls, which confirms the lack of tissue-specific GBE isoforms...