Genomes and Genes
Affiliation: Saarland University
- DNA mismatch repair and Lynch syndromeGuido Plotz
Klinik fur Innere Medizin II, Universitatsklinikum des Saarlandes, Kirrberger Strasse, Gebäude 41, D 66421 Homburg, Germany
J Mol Histol 37:271-83. 2006..We review the biochemistry of mismatch repair and also introduce the clinical, diagnostic and genetic aspects of Lynch syndrome...
- Analysis of the human MutLalpha.MutSalpha complexGuido Plotz
University of the Saarland, Klinik fur Innere Medizin II, Homburg Saar, Germany
Biochem Biophys Res Commun 340:852-9. 2006..The described conditions likely capture an intermediate of the repair reaction which has bound ATP and ADP in the two nucleotide-binding sites of MutSalpha...
- N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalphaGuido Plotz
2nd Department of Medicine, University of the Saarland, Kirrberger Strasse, D 66421 Homburg Saar, Germany
Nucleic Acids Res 31:3217-26. 2003..We also examined another human homologue of bacterial MutL, hMutLbeta (hMLH1-hPMS1). We show that hMutLbeta interacts as efficiently with hMutSalpha as hMutLalpha, and that it predominantly binds to hMutSalpha via hMLH1 as well...
- BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumorsNikolaus Lubomierski
2nd Department of Internal Medicine, Saarland University Hospital, Homburg Saar, Germany
Cancer 104:952-61. 2005..These alterations were attributed to defective DNA mismatch repair, which underlies MSI. It was the objective of this study to clarify the role of BRAF in colorectal carcinoma with MSI...
- Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repairGuido Plotz
Klinik fur Innere Medizin II, Gebäude 41 Kirrberger Strasse, Universitat des Saarlandes, D 66421 Homburg Saar, Germany
Nucleic Acids Res 34:6574-86. 2006....
- Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defectsSven Gottschling
Department of Pediatric Hematology and Oncology Saarland University, University Children s Hospital, Homburg, Germany
Eur J Pediatr 167:225-9. 2008..We propose to take a retinoic acid chemoprevention into account in children with proven biallelic PMS2 mismatch repair mutations being at highest risk concerning the development of a malignancy...
- Epac activation converts cAMP from a proliferative into a differentiation signal in PC12 cellsSimone Kiermayer
Department of Internal Medicine, University of Saarland, D 66421 Homburg Saar, Germany
Mol Biol Cell 16:5639-48. 2005..Thus, the present study showed that the outcome of cAMP signaling can depend heavily on the set of cAMP effectors activated...
- Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp developmentMarkus Casper
Department of Internal Medicine II, Saarland University Hospital, Kirrberger Strasse, Homburg Saar, Germany
Dig Dis Sci 55:1711-5. 2010..Affected patients present with a wide range of clinical phenotypes at the time of diagnosis, but there is little precise information about the natural course of this disease...
- hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNAGuido Plotz
Second Department of Medicine, Johann Wolfgang Goethe University, Theodor Stern Kai 7, D 60590 Frankfurt am Main, Germany
Nucleic Acids Res 30:711-8. 2002..Purified hMutLalpha showed an intrinsic affinity for DNA, with a preference for single-stranded over double-stranded DNA...
- Thymosin beta 4 expression and nuclear transport are regulated by hMLH1Angela Brieger
Department of Internal Medicine I, Johann Wolfgang Goethe University, Theodor Stern Kai 7, D 60590 Frankfurt a M, Germany
Biochem Biophys Res Commun 364:731-6. 2007..Moreover, loss of hMLH1 causes Tbeta4 deprivation and results in reduced migratory activity in vitro. These data give insight into novel functions of hMLH1 and probably disease related dysregulated mechanisms...
- The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein familyJan Kosinski
Laboratory of Bioinformatics and Protein Engineering, International Institute of Molecular and Cell Biology, Trojdena 4, 02 109 Warsaw, Poland
J Mol Biol 382:610-27. 2008..Finally, we demonstrate that the conserved residues of the metal ion binding domain are crucial for MMR activity of MutLalpha in vitro...
- Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression systemJoerg Trojan
Second Department of Medicine, Johann Wolfgang Goethe University, Frankfurt a M, Germany
Gastroenterology 122:211-9. 2002..To date, functional analysis of missense mutations has been performed primarily in Saccharomyces cerevisiae. The aim of this study was to examine the biochemical properties of hMLH1 protein variants in a human expression system...
- Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitisGuido Plotz
Medizinische Klinik I, Johann Wolfgang Goethe Universitat, Frankfurt, Germany
Inflamm Bowel Dis 14:605-11. 2008....