Research Topics
Genomes and Genes | Klaus SchwarzSummaryAffiliation: University of Ulm Country: Germany Publications
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Publications
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type IIKlaus Schwarz
Institute for Transfusion Medicine, University of Ulm, Ulm, Germany
Nat Genet 41:936-40. 2009..Our results provide in vivo evidence for SEC23B selectivity in erythroid differentiation and show that SEC23A and SEC23B, although highly related paralogous secretory COPII components, are nonredundant in erythrocyte maturation...- The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination eventsUlrich Pannicke
Institute for Transfusion Medicine, University of Ulm, Ulm, Germany
Hum Mutat 31:197-207. 2010..Functional analyses on patients' fibroblasts demonstrated that the corresponding alleles carry null mutations of the DCLRE1C gene... 
Familial polycythemia vera with Budd-Chiari syndrome in childhoodHolger Cario
Department of Paediatrics, University Hospital Ulm, Germany
Br J Haematol 123:346-52. 2003..The patient underwent orthotopic liver transplantation and is being treated with hydroxyurea. The available literature on familial polycythemia vera and polycythemia vera in childhood with and without Budd-Chiari syndrome is reviewed...- Human severe combined immune deficiency and DNA repairKlaus Schwarz
Department of Transfusion Medicine, University of Ulm, Germany
Bioessays 25:1061-70. 2003.... - Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosisHolger Cario
Dept of Pediatrics, University Hospital Ulm, Prittwitzstrasse 43 D 89075 Ulm, Germany
Haematologica 90:19-24. 2005..Subsequently this and other mutations in the VHL gene were also detected in several patients of different ethnic origin. Haplotype analyses of the VHL gene suggested a common origin for the Chuvash-type mutation... - Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observationHermann Heimpel
Department of Internal Medicine III, University of Ulm, Germany, Robert Koch Strasse 8, D 89081 Ulm, Germany
Blood 107:334-40. 2006..Five patients were treated with interferon alpha-2a, and all responded with a rise in hemoglobin concentration of between 25 and 35 g/L (2.5 and 3.5 g/dL) starting within 4 weeks... - Breaking chemoresistance and radioresistance with [213Bi]anti-CD45 antibodies in leukemia cellsClaudia Friesen
Nuclear Medicine Clinic, Department of Transfusion Medicine, and University Children s Hospital, University of Ulm, Ulm, Germany
Cancer Res 67:1950-8. 2007.... 
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic diseaseHolger Cario
Department of Pediatrics and Adolescent Medicine, University Hospital, Ulm, Germany
Am J Hum Genet 88:226-31. 2011..DHFR is necessary for maintaining sufficient CSF and RBC folate levels, even in the presence of adequate nutritional folate supply and normal plasma folate...- Functional and biochemical dissection of the structure-specific nuclease ARTEMISUlrich Pannicke
Institute for Clinical Transfusion Medicine and Immunogenetics, and Department of Transfusion Medicine, University of Ulm, Ulm, Germany
EMBO J 23:1987-97. 2004..These results indicate that the hairpin-opening activity of ARTEMIS and/or its overhang endonucleolytic activity are necessary but its exonuclease activity is not sufficient for the process of V(D)J recombination... - DNA-ligase IV and DNA-protein kinase play a critical role in deficient caspases activation in apoptosis-resistant cancer cells by using doxorubicinClaudia Friesen
Institute of Legal Medicine, University of Ulm, 89075 Ulm, Germany
Mol Biol Cell 19:3283-9. 2008..Failure in caspases activation using doxorubicin depends on loss of DNA damage and is due to higher rates of NHEJ-DNA-DBS-repair... - Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia veraHolger Cario
Department of Paediatrics, University Hospital Ulm, Ulm, Germany
Br J Haematol 142:622-6. 2008..The JAK2(V617F) mutation was found in six patients; two patients displayed JAK2 exon 12 mutations, including one novel mutation (JAK2(H538-K539delinsI)). CD177 (PRV-1) mRNA expression was increased in three of five patients tested... - Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2Ulrich Pannicke
Institute for Transfusion Medicine, University of Ulm, Ulm, Germany
Nat Genet 41:101-5. 2009..These observations suggest that reticular dysgenesis is the first example of a human immunodeficiency syndrome that is causally linked to energy metabolism and that can therefore be classified as a mitochondriopathy... - Zinc-finger nuclease-induced gene repair with oligodeoxynucleotides: wanted and unwanted target locus modificationsSarah Radecke
Department of Molecular Diagnostics, Molecular Therapy and Experimental Transplantation, Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Donation Service Baden Wuerttemberg Hessen, Ulm, Germany
Mol Ther 18:743-53. 2010..Therefore, the specificity of ZFN-induced ssODN-mediated gene repair needs to be improved, especially regarding clinical applications... - Efficient transient genetic labeling of human CD34+ progenitor cells for in vivo applicationJuliane M I Wiehe
University of Ulm, Department of Internal Medicine II, Ulm, Germany
Regen Med 1:223-34. 2006..Mutz2 cells may serve as an in vitro model for human myeloid HPC. The method described herein has been adopted to Good Manufacturing Practices (GMP) guidelines and is ready for in vivo application... - Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complicationsManfred Hönig
Department of Pediatrics, University of Ulm, University Clinic for Child and Adolescent Medicine, Eythstrasse 24, 89075 Ulm, Germany
Blood 109:3595-602. 2007..The high rate of neurologic abnormalities observed in long-term surviving patients with ADA deficiency indicates that HSCT commonly fails to control CNS complications in this metabolic disease...