Andreas E Kulozik

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. pmc The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway
    Marcelo H Viegas
    Department of Pediatric Oncology, Hematology and Immunology, Children s Hospital, University of Heidelberg, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany
    Nucleic Acids Res 35:4542-51. 2007
  2. pmc The favorable effect of activating NOTCH1 receptor mutations on long-term outcome in T-ALL patients treated on the ALL-BFM 2000 protocol can be separated from FBXW7 loss of function
    C Kox
    Department of Pediatric Oncology, Hematology and Immunology, Angelika Lautenschläger Children s Hospital, University of Heidelberg, Heidelberg, Germany
    Leukemia 24:2005-13. 2010
  3. ncbi request reprint Stay tuned: miRNA expression and nonsense-mediated decay in brain development
    Andreas E Kulozik
    Department of Pediatric Oncology, University of Heidelberg and Molecular Medicine Partnership Unit of the European Molecular Biology Laboratory and the University of Heidelberg Medical Faculty, Im Neuenheimer Feld 430, D 69120 Heidelberg, Germany
    Mol Cell 42:407-8. 2011
  4. pmc Intensity Modulated Radiotherapy (IMRT) and Fractionated Stereotactic Radiotherapy (FSRT) for children with head-and-neck-rhabdomyosarcoma
    Stephanie E Combs
    University of Heidelberg, Department of Radiation Oncology, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany
    BMC Cancer 7:177. 2007
  5. doi request reprint Biological and clinical heterogeneity of MYCN-amplified medulloblastoma
    Andrey Korshunov
    Department of Neuropathology, University of Heidelberg, Heidelberg, Germany
    Acta Neuropathol 123:515-27. 2012
  6. ncbi request reprint Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification
    Andrey Korshunov
    Clinical Cooperation Unit Neuropathology, Division of Molecular Genetics, German Cancer Research Center, Heidelberg, Germany
    J Clin Oncol 28:3054-60. 2010
  7. doi request reprint Enhancement of radiation response in osteosarcoma and rhabdomyosarcoma cell lines by histone deacetylase inhibition
    Claudia Blattmann
    Department of Pediatric Oncology, University of Heidelberg, Heidelberg, Germany
    Int J Radiat Oncol Biol Phys 78:237-45. 2010
  8. doi request reprint Molecular staging of intracranial ependymoma in children and adults
    Andrey Korshunov
    German Cancer Research Center and University of Heidelberg, Heidelberg, Germany
    J Clin Oncol 28:3182-90. 2010
  9. ncbi request reprint GRHL1 acts as tumor suppressor in neuroblastoma and is negatively regulated by MYCN and HDAC3
    Johannes Fabian
    Authors Affiliations Clinical Cooperation Unit Pediatric Oncology Departments of Biostatistics and Tumor Genetics Clinical Cooperation Unit Neuropathology Division of Epigenomics and Cancer Risk Factors, German Cancer Research Center DKFZ Departments of Neuropathology and Pediatric Hematology and Oncology, University of Heidelberg, Heidelberg Transcriptome Analysis Laboratory, University of Goettingen, Goettingen St Lukas Klinik Solingen, Solingen Department of Pediatric Hematology and Oncology and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
    Cancer Res 74:2604-16. 2014
  10. doi request reprint MicroRNA-182 promotes leptomeningeal spread of non-sonic hedgehog-medulloblastoma
    Alfa H C Bai
    Division of Molecular Genetics B060, German Cancer Research Center DKFZ, Heidelberg, Germany
    Acta Neuropathol 123:529-38. 2012

Detail Information

Publications64

  1. pmc The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway
    Marcelo H Viegas
    Department of Pediatric Oncology, Hematology and Immunology, Children s Hospital, University of Heidelberg, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany
    Nucleic Acids Res 35:4542-51. 2007
    ..We conclude that cellular concentrations of RNPS1 can modify NMD efficiency and propose that cell type specific co-factor availability represents a novel principle that controls NMD...
  2. pmc The favorable effect of activating NOTCH1 receptor mutations on long-term outcome in T-ALL patients treated on the ALL-BFM 2000 protocol can be separated from FBXW7 loss of function
    C Kox
    Department of Pediatric Oncology, Hematology and Immunology, Angelika Lautenschläger Children s Hospital, University of Heidelberg, Heidelberg, Germany
    Leukemia 24:2005-13. 2010
    ..Finally, the comparison with other European protocols suggests that the NOTCH effect is treatment dependent generally and may depend on the intensity of central nervous system-directed therapy specifically...
  3. ncbi request reprint Stay tuned: miRNA expression and nonsense-mediated decay in brain development
    Andreas E Kulozik
    Department of Pediatric Oncology, University of Heidelberg and Molecular Medicine Partnership Unit of the European Molecular Biology Laboratory and the University of Heidelberg Medical Faculty, Im Neuenheimer Feld 430, D 69120 Heidelberg, Germany
    Mol Cell 42:407-8. 2011
    ....
  4. pmc Intensity Modulated Radiotherapy (IMRT) and Fractionated Stereotactic Radiotherapy (FSRT) for children with head-and-neck-rhabdomyosarcoma
    Stephanie E Combs
    University of Heidelberg, Department of Radiation Oncology, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany
    BMC Cancer 7:177. 2007
    ....
  5. doi request reprint Biological and clinical heterogeneity of MYCN-amplified medulloblastoma
    Andrey Korshunov
    Department of Neuropathology, University of Heidelberg, Heidelberg, Germany
    Acta Neuropathol 123:515-27. 2012
    ....
  6. ncbi request reprint Adult and pediatric medulloblastomas are genetically distinct and require different algorithms for molecular risk stratification
    Andrey Korshunov
    Clinical Cooperation Unit Neuropathology, Division of Molecular Genetics, German Cancer Research Center, Heidelberg, Germany
    J Clin Oncol 28:3054-60. 2010
    ..We aimed to identify genetic aberrations in 146 adult MBs to evaluate age-dependent differences in tumor biology and adapt age-specific risk stratification models...
  7. doi request reprint Enhancement of radiation response in osteosarcoma and rhabdomyosarcoma cell lines by histone deacetylase inhibition
    Claudia Blattmann
    Department of Pediatric Oncology, University of Heidelberg, Heidelberg, Germany
    Int J Radiat Oncol Biol Phys 78:237-45. 2010
    ..We investigated the effect of pan-HDACIs such as suberoylanilide hydroxamic acid (SAHA) on radiation response in two osteosarcoma (OS) and two rhabdomyosarcoma (RMS) cell lines...
  8. doi request reprint Molecular staging of intracranial ependymoma in children and adults
    Andrey Korshunov
    German Cancer Research Center and University of Heidelberg, Heidelberg, Germany
    J Clin Oncol 28:3182-90. 2010
    ..We aimed at the identification of recurrent genetic aberrations in ependymoma and evaluated their prognostic significance to develop a molecular staging system that could complement current classification criteria...
  9. ncbi request reprint GRHL1 acts as tumor suppressor in neuroblastoma and is negatively regulated by MYCN and HDAC3
    Johannes Fabian
    Authors Affiliations Clinical Cooperation Unit Pediatric Oncology Departments of Biostatistics and Tumor Genetics Clinical Cooperation Unit Neuropathology Division of Epigenomics and Cancer Risk Factors, German Cancer Research Center DKFZ Departments of Neuropathology and Pediatric Hematology and Oncology, University of Heidelberg, Heidelberg Transcriptome Analysis Laboratory, University of Goettingen, Goettingen St Lukas Klinik Solingen, Solingen Department of Pediatric Hematology and Oncology and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany
    Cancer Res 74:2604-16. 2014
    ....
  10. doi request reprint MicroRNA-182 promotes leptomeningeal spread of non-sonic hedgehog-medulloblastoma
    Alfa H C Bai
    Division of Molecular Genetics B060, German Cancer Research Center DKFZ, Heidelberg, Germany
    Acta Neuropathol 123:529-38. 2012
    ..We therefore reason that targeted inhibition of miR-182 may prevent leptomeningeal spread in patients with non-SHH-MB...
  11. doi request reprint FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma
    Marc Remke
    German Cancer Research Center, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    J Clin Oncol 29:3852-61. 2011
    ....
  12. doi request reprint Anti-neuroblastoma activity of Helminthosporium carbonum (HC)-toxin is superior to that of other differentiating compounds in vitro
    Hedwig E Deubzer
    Clinical Cooperation Unit Pediatric Oncology G340, German Cancer Research Center, Heidelberg, Germany
    Cancer Lett 264:21-8. 2008
    ..Without this functional group, those cellular effects are not observed. In conclusion, the anti-NB activity of HC-toxin is superior to that of RAs and that of all other HDACIs tested...
  13. doi request reprint Adult medulloblastoma comprises three major molecular variants
    Marc Remke
    German Cancer Research Center, University of Heidelberg, Heidelberg, Germany
    J Clin Oncol 29:2717-23. 2011
    ..The aim of this study was to investigate molecular subtypes and their prognostic implication in a large cohort of adult medulloblastomas as the biology in this age group remains poorly understood...
  14. pmc Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation
    Joachim B Kunz
    Department for Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany
    RNA 12:1015-22. 2006
    ..Stimulation of translation is independent of this interaction and is determined by other regions of the hUpf3 protein, indicating the presence of different downstream pathways of hUpf3 proteins either in NMD or in translation...
  15. doi request reprint Long-term outcome of high-precision radiotherapy in patients with brain stem gliomas: results from a difficult-to-treat patient population using fractionated stereotactic radiotherapy
    Stephanie E Combs
    Department of Radiation Oncology, University Hospital of Heidelberg, Heidelberg, Germany
    Radiother Oncol 91:60-6. 2009
    ..To assess long-term outcome in 85 patients with brain stem gliomas treated with fractionated stereotactic radiation therapy (FSRT)...
  16. pmc Combination of suberoylanilide hydroxamic acid with heavy ion therapy shows promising effects in infantile sarcoma cell lines
    Susanne Oertel
    Department of Radiooncology, University of Heidelberg, INF 400, Heidelberg 69120, Germany
    Radiat Oncol 6:119. 2011
    ..Here, we investigate its effect on the response of two sarcoma cell lines and a normal tissue cell line to heavy ion irradiation (HIT)...
  17. pmc Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways
    Pavel V Ivanov
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    EMBO J 27:736-47. 2008
    ..The EJC, with UPF2 or UPF3b as a cofactor, interferes with physiological termination through UPF1. This model integrates previously competing models of NMD and suggests a mechanistic basis for alternative NMD pathways...
  18. pmc Outcome and prognostic factors of desmoplastic medulloblastoma treated within a multidisciplinary treatment concept
    Stefan Rieken
    Department of Radiation Oncology, University Hospital of Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany
    BMC Cancer 10:450. 2010
    ..This study was set up to investigate treatment outcome and prognostic factors after radiation therapy in patients with desmoplastic medulloblastomas...
  19. doi request reprint Outcome and prognostic factors of radiation therapy for medulloblastoma
    Stefan Rieken
    Department of Radiation Oncology, University of Heidelberg, Heidelberg, Germany
    Int J Radiat Oncol Biol Phys 81:e7-e13. 2011
    ..To investigate treatment outcome and prognostic factors after radiation therapy in patients with medulloblastomas (MB)...
  20. doi request reprint Nestin expression identifies ependymoma patients with poor outcome
    Till Milde
    Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center, Heidelberg, Germany
    Brain Pathol 22:848-60. 2012
    ..In summary, our data implicate nestin as a useful novel marker for intracranial ependymoma risk stratification easily implementable in routine diagnostics...
  21. ncbi request reprint Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma
    Hendrik Witt
    Division Molecular Genetics, German Cancer Research Center, 69120 Heidelberg, Germany
    Cancer Cell 20:143-57. 2011
    ....
  22. pmc In vivo efficacy of the histone deacetylase inhibitor suberoylanilide hydroxamic acid in combination with radiotherapy in a malignant rhabdoid tumor mouse model
    Markus Thiemann
    Department of Radiation Oncology, University of Heidelberg, INF 600, 69120 Heidelberg, Germany
    Radiat Oncol 7:52. 2012
    ..We explored the effect as well as the radiosensitizing properties of suberoylanilide hydroxamic acid (SAHA) in vivo in a malignant rhabdoid tumor (MRT) mouse model...
  23. doi request reprint Downregulation of Notch signaling by gamma-secretase inhibition can abrogate chemotherapy-induced apoptosis in T-ALL cell lines
    Shuangyou Liu
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Ann Hematol 88:613-21. 2009
    ..In conclusion, the data presented here caution against clinical use of a combination treatment of GSI and chemotherapy in T-ALL...
  24. doi request reprint HD-MB03 is a novel Group 3 medulloblastoma model demonstrating sensitivity to histone deacetylase inhibitor treatment
    Till Milde
    Clinical Cooperation Unit Pediatric Oncology G340, German Cancer Research Center DKFZ, Im Neuenheimer Feld 280, 69120, Heidelberg, Germany
    J Neurooncol 110:335-48. 2012
    ..In summary, our data indicate that HD-MB03 is a suitable preclinical model for Group 3 medulloblastoma, and HDACis could represent a therapeutic option for this subgroup...
  25. pmc A novel human high-risk ependymoma stem cell model reveals the differentiation-inducing potential of the histone deacetylase inhibitor Vorinostat
    Till Milde
    Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center, Heidelberg, Germany
    Acta Neuropathol 122:637-50. 2011
    ....
  26. doi request reprint p38 MAPK controls prothrombin expression by regulated RNA 3' end processing
    Sven Danckwardt
    Department of Pediatric Oncology, Hematology, and Immunology, University of Heidelberg, Heidelberg, Germany
    Mol Cell 41:298-310. 2011
    ..Regulated 3' end processing thus emerges as a key mechanism of gene regulation with broad biological and medical implications...
  27. ncbi request reprint A chemiluminescence-based reporter system to monitor nonsense-mediated mRNA decay
    Stephanie Boelz
    Molecular Medicine Partnership Unit, University of Heidelberg and European Molecular Biology Laboratory, Im Neuenheimer Feld 156, 69120 Heidelberg, Germany
    Biochem Biophys Res Commun 349:186-91. 2006
    ..Wortmannin treatment enhanced NMD reporter expression in our system in a dose-dependent way, illustrating its utility for small molecule screening...
  28. pmc The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD)
    Clemens Stockklausner
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, 69120 Heidelberg, Germany
    Nucleic Acids Res 34:2355-63. 2006
    ..Thus, regulation of TPO expression is independent of NMD, implying that mRNAs bearing uORFs cannot generally be considered to represent NMD targets...
  29. pmc The hierarchy of exon-junction complex assembly by the spliceosome explains key features of mammalian nonsense-mediated mRNA decay
    Niels H Gehring
    Molecular Medicine Partnership Unit, University of Heidelberg and European Molecular Biology Laboratory, Heidelberg, Germany
    PLoS Biol 7:e1000120. 2009
    ..Based on this systematic analysis of EJC assembly by the spliceosome, we propose a model of how a functional EJC is assembled in a strictly sequential and hierarchical fashion, including nuclear splicing-dependent and cytoplasmic steps...
  30. pmc Internal ribosome entry sequence-mediated translation initiation triggers nonsense-mediated decay
    Jill A Holbrook
    European Molecular Biology Laboratory, University Hospital Heidelberg, Molecular Medicine Partnership Unit, University of Heidelberg, Im Neuenheimer Feld 150, Heidelberg 69120, Germany
    EMBO Rep 7:722-6. 2006
    ..These data generalize the previous model and suggest that translation per se, irrespective of how it is initiated, can mediate NMD...
  31. pmc MYCN and HDAC2 cooperate to repress miR-183 signaling in neuroblastoma
    Marco Lodrini
    Clinical Cooperation Unit Pediatric Oncology G340, German Cancer Research Center DKFZ, 69120 Heidelberg, Germany
    Nucleic Acids Res 41:6018-33. 2013
    ..These data reveal miR-183 tumor suppressive properties in neuroblastoma that are jointly repressed by MYCN and HDAC2, and suggest a novel way to bypass MYCN function. ..
  32. ncbi request reprint Histone deacetylase inhibitor Helminthosporium carbonum (HC)-toxin suppresses the malignant phenotype of neuroblastoma cells
    Hedwig E Deubzer
    Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center DKFZ, Heidelberg, Germany
    Int J Cancer 122:1891-900. 2008
    ..In conclusion, nanomolar doses of the HDACI HC-toxin cause a shift to a differentiated and benign phenotype of NB cells that is associated with an activation of the RB tumor suppressor network...
  33. doi request reprint NMD: multitasking between mRNA surveillance and modulation of gene expression
    Gabriele Neu-Yilik
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital Heidelberg, Heidelberg, Germany
    Adv Genet 62:185-243. 2008
    ..The main focus of this chapter lies on mammalian NMD and resorts to the features and factors of NMD in other organisms if these help to complete or illuminate the picture...
  34. pmc Splicing factors stimulate polyadenylation via USEs at non-canonical 3' end formation signals
    Sven Danckwardt
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany
    EMBO J 26:2658-69. 2007
    ..These data uncover a novel mechanism that functionally links the splicing and 3' end formation machineries of multiple cellular mRNAs in an USE-dependent manner...
  35. doi request reprint Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma
    Huriye Cin
    Division of Molecular Genetics, German Cancer Research Center, Heidelberg, Germany
    Acta Neuropathol 121:763-74. 2011
    ..In summary, our findings further underline the fundamental role of RAF kinase fusion products as a tumor-specific marker and an ideally suited drug target for PA...
  36. pmc Treatment of pediatric patients and young adults with particle therapy at the Heidelberg Ion Therapy Center (HIT): establishment of workflow and initial clinical data
    Stephanie E Combs
    Department of Radiation Oncology, University Hospital of Heidelberg, Im Neuenheimer Feld 400, Heidelberg, 69120, Germany
    Radiat Oncol 7:170. 2012
    ..To report on establishment of workflow and clinical results of particle therapy at the Heidelberg Ion Therapy Center...
  37. doi request reprint Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma
    Dominik Sturm
    Division of Pediatric Neurooncology, German Cancer Research Center DKFZ Heidelberg, 69120 Heidelberg, Germany
    Cancer Cell 22:425-37. 2012
    ..We also demonstrate that the two H3F3A mutations give rise to GBMs in separate anatomic compartments, with differential regulation of transcription factors OLIG1, OLIG2, and FOXG1, possibly reflecting different cellular origins...
  38. pmc NOTCH1 activation clinically antagonizes the unfavorable effect of PTEN inactivation in BFM-treated children with precursor T-cell acute lymphoblastic leukemia
    Obul R Bandapalli
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Haematologica 98:928-36. 2013
    ....
  39. pmc Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma
    David T W Jones
    Division of Pediatric Neurooncology, German Cancer Research Center DKFZ, Heidelberg, Germany
    Nat Genet 45:927-32. 2013
    ..Our findings thus identify new potential therapeutic targets in distinct subsets of pilocytic astrocytoma and childhood glioblastoma. ..
  40. pmc Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon
    Gabriele Neu-Yilik
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    RNA 17:843-54. 2011
    ..Furthermore, our data uncover a reason why the position of a nonsense mutation alone does not suffice to predict the fate of the affected mRNA and its effect on protein expression...
  41. ncbi request reprint Y14 and hUpf3b form an NMD-activating complex
    Niels H Gehring
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany
    Mol Cell 11:939-49. 2003
    ..These results uncover a direct role of Y14 in NMD and suggest an unexpected hierarchy in the assembly of NMD complexes...
  42. pmc Nonsense-mediated mRNA decay: from vacuum cleaner to Swiss army knife
    Gabriele Neu-Yilik
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany
    Genome Biol 5:218. 2004
    ..Two new approaches have identified physiological NMD substrates, and suggest that NMD functions as a multipurpose tool in the modulation of gene expression...
  43. ncbi request reprint The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations
    Sven Danckwardt
    Molecular Medicine Partnership Unit, Im Neuenheimer Feld 153, 69120 Heidelberg, Germany
    Blood 104:428-35. 2004
    ..This balance appears to be highly susceptible to being disturbed by clinically relevant gain-of-function mutations...
  44. doi request reprint Parvovirus H1 selectively induces cytotoxic effects on human neuroblastoma cells
    Jeannine Lacroix
    Program Infection and Cancer, Department F010 and INSERM U701, German Cancer Research Center, Im Neuenheimer Feld 242, D 69120 Heidelberg, Germany
    Int J Cancer 127:1230-9. 2010
    ....
  45. doi request reprint A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL
    Susanne Haemmerling
    Department of Paediatric Oncology, Haematology and Immunology, University of Heidelberg Medical Centre, Heidelberg, Germany
    Br J Haematol 157:180-7. 2012
    ..The 15q24 microdeletion may thus represent the first genetic hit to initiate leukaemogenesis and implicates PML and SUMO3 as novel components of the leukaemogenic network in TMD/AMKL...
  46. ncbi request reprint 3' end processing of the prothrombin mRNA in thrombophilia
    Sven Danckwardt
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Acta Haematol 115:192-7. 2006
    ....
  47. doi request reprint Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations
    Olaf Sommerburg
    Division of Paediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Paediatrics III, Children s Hospital, University of Heidelberg, Im Neuenheimer Feld 430, D 69120 Heidelberg, Germany Translational Lung Research Centre Heidelberg TLRC, Member of the German Center for Lung Research DZL, Im Neuenheimer Feld 350, D 69120 Heidelberg, Germany Electronic address
    J Cyst Fibros 13:15-23. 2014
    ..To optimize the IRT/PAP strategy we compared protocols from three regional CF newborn screening centers (Heidelberg, Dresden, and Prague)...
  48. pmc Pathologies at the nexus of blood coagulation and inflammation: thrombin in hemostasis, cancer, and beyond
    Sven Danckwardt
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    J Mol Med (Berl) 91:1257-71. 2013
    ..In this review, we will address thrombin's broad roles in diverse (patho)physiological processes in an integrative way. We will also discuss thrombin as an emerging major target for novel therapies. ..
  49. ncbi request reprint Nonsense-mediated decay approaches the clinic
    Jill A Holbrook
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, D 69120 Heidelberg, Germany
    Nat Genet 36:801-8. 2004
    ..Potential 'NMD therapeutics' will therefore need to strike a balance between the general physiological benefits of NMD and its detrimental effects in cases of specific genetic mutations...
  50. ncbi request reprint Impact of pre-analytical handling on bone marrow mRNA gene expression
    Stephen Breit
    Department of Paediatric Oncology, Haematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Br J Haematol 126:231-43. 2004
    ..Immediate density centrifugation or erythrocyte lysis and freezing at -80 degrees C represent simple procedures that reliably preserved mRNA gene expression patterns in BM...
  51. pmc Non-randomized therapy trial to determine the safety and efficacy of heavy ion radiotherapy in patients with non-resectable osteosarcoma
    Claudia Blattmann
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 154, 69120 Heidelberg, Germany
    BMC Cancer 10:96. 2010
    ..They achieve a higher relative biological effectiveness. Phase I/II dose escalation studies of HIT in adults with non-resectable bone and soft tissue sarcomas have already shown favorable results...
  52. doi request reprint Tethering assays to investigate nonsense-mediated mRNA decay activating proteins
    Niels H Gehring
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    Methods Enzymol 448:467-82. 2008
    ..In this chapter we explicate the cloning of appropriate reporter plasmids and the setup of a tethering experiment with the necessary control experiments. Advantages of the different systems and tags are discussed...
  53. ncbi request reprint Influence of radiotherapy treatment concept on the outcome of patients with localized ependymomas
    Stephanie E Combs
    Neuro Radiation Oncology Research Group, Department of Radiation Oncology, University of Heidelberg, Heidelberg, Germany
    Int J Radiat Oncol Biol Phys 71:972-8. 2008
    ..To assess the outcome of 57 patients with localized ependymomas treated with radiotherapy (RT)...
  54. ncbi request reprint The human intronless melanocortin 4-receptor gene is NMD insensitive
    Katja S Brocke
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 150, D 69120 Heidelberg, Germany
    Hum Mol Genet 11:331-5. 2002
    ..Thus, the naturally intronless MC4-R gene and probably many other intronless genes fail to be monitored by the NMD pathway...
  55. ncbi request reprint Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia
    Stephen Breit
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, D 69120 Heidelberg, Germany
    Blood 108:1151-7. 2006
    ..These findings indicate that in the context of the ALL-BFM 2000 treatment strategy, NOTCH1 mutations predict a more rapid early treatment response and a favorable long-term outcome in children with T-ALL...
  56. ncbi request reprint High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response
    Marc Remke
    German Cancer Research Center DKFZ, Division Molecular Genetics, Heidelberg, Germany
    Blood 114:1053-62. 2009
    ..The data presented here implicate the TGF-beta and PI3K-AKT pathways in T-ALL leukemogenesis and identify a subgroup of patients with CASP8AP2 deletions and poor early treatment response...
  57. pmc 3' end mRNA processing: molecular mechanisms and implications for health and disease
    Sven Danckwardt
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    EMBO J 27:482-98. 2008
    ..Here, we review the mechanistic hallmarks of mRNA 3' end processing, highlight the medical relevance of deregulation of this important step of mRNA maturation and illustrate the implications for diagnostic and therapeutic strategies...
  58. doi request reprint Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects
    Clemens Stockklausner
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany
    Ann Hematol 91:1129-33. 2012
    ..Overstimulation of the THPO pathway might therefore predispose to clonal hematopoietic disease and to congenital abnormalities...
  59. doi request reprint Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes
    Andrey Korshunov
    German Cancer Research Center, Heidelberg, Germany
    Acta Neuropathol 120:253-60. 2010
    ..FISH analysis of the 19q13.42 locus is a very promising diagnostic tool to identify a subset of primitive neuroectodermal tumors with distinct morphology, biology, and clinical behavior...
  60. pmc A sensitive array for microRNA expression profiling (miChip) based on locked nucleic acids (LNA)
    Mirco Castoldi
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany
    RNA 12:913-20. 2006
    ..The superior detection sensitivity eliminates the need for RNA size selection and/or amplification. MiChip will greatly simplify miRNA expression profiling of biological and clinical samples...
  61. doi request reprint TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma
    Elke Pfaff
    German Cancer Research Center, University Hospital Heidelberg, University of Heidelberg, Heidelberg, Germany
    J Clin Oncol 28:5188-96. 2010
    ..A recent report identified TP53 mutations in MB as an adverse prognostic marker. Hence, the current study was conducted to validate the prognostic role of TP53 mutation in MB and to understand its contribution to tumorigenesis...
  62. ncbi request reprint Profiling and functional annotation of mRNA gene expression in pediatric rhabdomyosarcoma and Ewing's sarcoma
    Claudia Baer
    Deparment of Pediatric Oncology, Hematology and Immunology, University Children s Hospital, Heidelberg, Germany
    Int J Cancer 110:687-94. 2004
    ..Supplementary material for this article is available at the International Journal of Cancer website at http://www.interscience.wiley.com/jpages/0020-7136/suppmat/index.html...
  63. doi request reprint Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population
    Olaf Sommerburg
    Division of Paediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Paediatrics III, University of Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany
    J Inherit Metab Dis 33:S263-71. 2010
    ....
  64. doi request reprint Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
    Johann Greil
    Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Heidelberg, Germany
    J Allergy Clin Immunol 131:1376-83.e3. 2013
    ..They are clinically highly relevant per se because in patients with severe combined immunodeficiency (SCID), infections caused by opportunistic pathogens are typically life-threatening early in life...