Klaus Schwarz

Summary

Affiliation: University of Ulm
Country: Germany

Publications

  1. doi request reprint Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
    Klaus Schwarz
    Institute for Transfusion Medicine, University of Ulm, Ulm, Germany
    Nat Genet 41:936-40. 2009
  2. doi request reprint The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events
    Ulrich Pannicke
    Institute for Transfusion Medicine, University of Ulm, Ulm, Germany
    Hum Mutat 31:197-207. 2010
  3. ncbi request reprint Familial polycythemia vera with Budd-Chiari syndrome in childhood
    Holger Cario
    Department of Paediatrics, University Hospital Ulm, Germany
    Br J Haematol 123:346-52. 2003
  4. ncbi request reprint Human severe combined immune deficiency and DNA repair
    Klaus Schwarz
    Department of Transfusion Medicine, University of Ulm, Germany
    Bioessays 25:1061-70. 2003
  5. ncbi request reprint Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis
    Holger Cario
    Dept of Pediatrics, University Hospital Ulm, Prittwitzstrasse 43 D 89075 Ulm, Germany
    Haematologica 90:19-24. 2005
  6. ncbi request reprint Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation
    Hermann Heimpel
    Department of Internal Medicine III, University of Ulm, Germany, Robert Koch Strasse 8, D 89081 Ulm, Germany
    Blood 107:334-40. 2006
  7. ncbi request reprint Breaking chemoresistance and radioresistance with [213Bi]anti-CD45 antibodies in leukemia cells
    Claudia Friesen
    Nuclear Medicine Clinic, Department of Transfusion Medicine, and University Children s Hospital, University of Ulm, Ulm, Germany
    Cancer Res 67:1950-8. 2007
  8. doi request reprint SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID
    Catharina Schuetz
    Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany
    Blood 123:281-9. 2014
  9. pmc Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease
    Holger Cario
    Department of Pediatrics and Adolescent Medicine, University Hospital, Ulm, Germany
    Am J Hum Genet 88:226-31. 2011
  10. pmc Functional and biochemical dissection of the structure-specific nuclease ARTEMIS
    Ulrich Pannicke
    Institute for Clinical Transfusion Medicine and Immunogenetics, and Department of Transfusion Medicine, University of Ulm, Ulm, Germany
    EMBO J 23:1987-97. 2004

Collaborators

Detail Information

Publications16

  1. doi request reprint Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
    Klaus 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...
  2. doi request reprint The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events
    Ulrich 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...
  3. ncbi request reprint Familial polycythemia vera with Budd-Chiari syndrome in childhood
    Holger 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...
  4. ncbi request reprint Human severe combined immune deficiency and DNA repair
    Klaus Schwarz
    Department of Transfusion Medicine, University of Ulm, Germany
    Bioessays 25:1061-70. 2003
    ....
  5. ncbi request reprint Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis
    Holger 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...
  6. ncbi request reprint Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation
    Hermann 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...
  7. ncbi request reprint Breaking chemoresistance and radioresistance with [213Bi]anti-CD45 antibodies in leukemia cells
    Claudia Friesen
    Nuclear Medicine Clinic, Department of Transfusion Medicine, and University Children s Hospital, University of Ulm, Ulm, Germany
    Cancer Res 67:1950-8. 2007
    ....
  8. doi request reprint SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID
    Catharina Schuetz
    Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany
    Blood 123:281-9. 2014
    ..Furthermore, abnormalities in dental development and endocrine late effects were associated with alkylation therapy in ARTEMIS deficiency. ..
  9. pmc Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease
    Holger 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...
  10. pmc Functional and biochemical dissection of the structure-specific nuclease ARTEMIS
    Ulrich 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...
  11. pmc DNA-ligase IV and DNA-protein kinase play a critical role in deficient caspases activation in apoptosis-resistant cancer cells by using doxorubicin
    Claudia 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...
  12. doi request reprint Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera
    Holger 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...
  13. doi request reprint Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
    Ulrich 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...
  14. pmc Zinc-finger nuclease-induced gene repair with oligodeoxynucleotides: wanted and unwanted target locus modifications
    Sarah 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...
  15. ncbi request reprint Efficient transient genetic labeling of human CD34+ progenitor cells for in vivo application
    Juliane 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...
  16. ncbi request reprint Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
    Manfred 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...