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1. Full Text Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
by Schwartzentruber, Jeremy and Korshunov, Andrey and Liu, Xiao-Yang and Jones, David T. W and Pfaff, Elke and Jacob, Karine and Sturm, Dominik and Fontebasso, Adam M and Quang, Dong-Anh Khuong and Tönjes, Martje and Hovestadt, Volker and Albrecht, Steffen and Kool, Marcel and Nantel, Andre and Konermann, Carolin and Lindroth, Anders and Jäger, Natalie and Rausch, Tobias and Ryzhova, Marina and Korbel, Jan O and Hielscher, Thomas and Hauser, Peter and Garami, Miklos and Klekner, Almos and Bognar, Laszlo and Ebinger, Martin and Schuhmann, Martin U and Scheurlen, Wolfram and Pekrun, Arnulf and Frühwald, Michael C and Roggendorf, Wolfgang and Kramm, Christoph and Dürken, Matthias and Atkinson, Jeffrey and Lepage, Pierre and Montpetit, Alexandre and Zakrzewska, Magdalena and Zakrzewski, Krzystof and Liberski, Pawel P and Dong, Zhifeng and Siegel, Peter and Kulozik, Andreas E and Zapatka, Marc and Guha, Abhijit and Malkin, David and Felsberg, Jörg and Reifenberger, Guido and Von Deimling, Andreas and Ichimura, Koichi and Collins, V. Peter and Witt, Hendrik and Milde, Till and Witt, Olaf and Zhang, Cindy and Castelo-Branco, Pedro and Lichter, Peter and Faury, Damien and Tabori, Uri and Plass, Christoph and Majewski, Jacek and Pfister, Stefan M and Jabado, Nada
Nature, ISSN 0028-0836, 02/2012, Volume 482, Issue 7384, pp. 226 - 231
Glioblastoma multiforme (GBM) is a lethal brain tumour in adults and children. However, DNA copy number and gene expression signatures indicate differences... 
METHYLATION | MULTIDISCIPLINARY SCIENCES | INTEGRATED GENOMIC ANALYSIS | EMBRYONIC STEM-CELLS | ATRX | HIGH-GRADE GLIOMAS | ABERRATIONS | TUMORS | EXPRESSION | MULTIFORME | TELOMERES | Chromatin - metabolism | Humans | Molecular Sequence Data | Chromatin Assembly and Disassembly - genetics | Gene Expression Profiling | X-linked Nuclear Protein | Mutation - genetics | Tumor Suppressor Protein p53 - genetics | Exome - genetics | Histones - genetics | Glioblastoma - genetics | DNA Mutational Analysis | Base Sequence | Adaptor Proteins, Signal Transducing - genetics | Histones - metabolism | Nuclear Proteins - genetics | Child | Chromatin - genetics | DNA Helicases - genetics | Telomere - genetics | Pathogenesis | Mortality | Brain cancer | Epigenetics | DNA methylation | Genomes | Mutation | Telomerase | Index Medicus
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2. Full Text GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
by Weber, Yvonne G and Storch, Alexander and Wuttke, Thomas V and Brockmann, Knut and Kempfle, Judith and Maljevic, Snezana and Margari, Lucia and Kamm, Christoph and Schneider, Susanne A and Huber, Stephan M and Pekrun, Arnulf and Roebling, Robert and Seebohm, Guiscard and Koka, Saisudha and Lang, Camelia and Kraft, Eduard and Blazevic, Dragica and Salvo-Vargas, Alberto and Fauler, Michael and Mottaghy, Felix M and Münchau, Alexander and Edwards, Mark J and Presicci, Anna and Margari, Francesco and Gasser, Thomas and Lang, Florian and Bhatia, Kailash P and Lehmann-Horn, Frank and Lerche, Holger
Journal of Clinical Investigation, ISSN 0021-9738, 06/2008, Volume 118, Issue 6, pp. 2157 - 2168
Paroxysmal dyskinesias are episodic movement disorders that can be inherited or are sporadic in nature. The pathophysiology underlying these disorders remains... 
MEDICINE, RESEARCH & EXPERIMENTAL | CYSTEINE-SCANNING MUTAGENESIS | MOVEMENT-DISORDER | GENE | GLUCOSE-TRANSPORTER | RED-CELLS | EXERCISE-INDUCED DYSTONIA | EPILEPSY | FAMILIAL INFANTILE CONVULSIONS | BLOOD-BRAIN-BARRIER | DEFICIENCY SYNDROME | Xenopus | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Anemia, Hemolytic - genetics | Chorea - pathology | Animals | Glucose Transporter Type 1 - genetics | Models, Biological | Erythrocytes - metabolism | Glucose Transporter Type 1 - physiology | Glucose - metabolism | Adult | Female | Cations | Chorea - genetics | Anemia, Hemolytic - etiology | Physical Exertion | Care and treatment | Hemolytic anemia | Gene mutations | Diagnosis | Research | Risk factors | Movement disorders | Index Medicus | Abridged Index Medicus
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3. Full Text Oncogenic FAM131B–BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma
by Cin, Huriye and Meyer, Claus and Herr, Ricarda and Janzarik, Wibke G and Lambert, Sally and Jones, David T. W and Jacob, Karine and Benner, Axel and Witt, Hendrik and Remke, Marc and Bender, Sebastian and Falkenstein, Fabian and Van Anh, Ton Nu and Olbrich, Heike and von Deimling, Andreas and Pekrun, Arnulf and Kulozik, Andreas E and Gnekow, Astrid and Scheurlen, Wolfram and Witt, Olaf and Omran, Heymut and Jabado, Nada and Collins, V Peter and Brummer, Tilman and Marschalek, Rolf and Lichter, Peter and Korshunov, Andrey and Pfister, Stefan M
Acta Neuropathologica, ISSN 0001-6322, 6/2011, Volume 121, Issue 6, pp. 763 - 774
Activation of the MAPK signaling pathway has been shown to be a unifying molecular feature in pilocytic astrocytoma (PA). Genetically, tandem duplications at... 
Medicine & Public Health | Pathology | Neurosciences | PEDIATRIC GLIOMAS | BRAF | LOW-GRADE ASTROCYTOMAS | PATHOLOGY | CANCER | TUMORS | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | DUPLICATION | B-RAF | COMPARATIVE GENOMIC HYBRIDIZATION | MEDULLOBLASTOMA | Astrocytoma - genetics | NIH 3T3 Cells | Sequence Deletion | Follow-Up Studies | Oligonucleotide Array Sequence Analysis | Humans | Brain Neoplasms - genetics | Child, Preschool | Infant | Male | Gene Expression Profiling | Mutation - genetics | Phosphorylation - genetics | Animals | MAP Kinase Signaling System - genetics | Transfection - methods | Comparative Genomic Hybridization | Oncogene Proteins, Fusion - genetics | Proto-Oncogene Proteins B-raf - genetics | Statistics, Nonparametric | Female | Mice | Chromosomes, Human, Pair 7 - genetics | Gene Expression Regulation, Neoplastic - genetics | Care and treatment | Molecular genetics | Oncology, Experimental | Leukemia | Genetic research | Cytogenetics | Research | Universities and colleges | Histochemistry | Biometry | Cancer | Index Medicus | Drugs | Phosphorylation | MAP kinase | Raf protein | Chromosome deletion | Gene deletion | raf1 gene | Gene fusion | K-Ras protein | Signal transduction | DNA microarrays | chromosome 7 | gene duplication | genomics | Mutation | gene rearrangement | Astrocytoma | Tumors
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4. Full Text HD-MB03 is a novel Group 3 medulloblastoma model demonstrating sensitivity to histone deacetylase inhibitor treatment
by Milde, Till and Lodrini, Marco and Savelyeva, Larissa and Korshunov, Andrey and Kool, Marcel and Brueckner, Lena M and Antunes, André S. L. M and Oehme, Ina and Pekrun, Arnulf and Pfister, Stefan M and Kulozik, Andreas E and Witt, Olaf and Deubzer, Hedwig E
Journal of Neuro-Oncology, ISSN 0167-594X, 12/2012, Volume 110, Issue 3, pp. 335 - 348
Medulloblastomas are the most common malignant brain tumors in childhood. Emerging evidence suggests that medulloblastoma comprises at least four distinct... 
Panobinostat | Neurology | Medicine & Public Health | Medulloblastoma | MYC | Vorinostat | Group 3 | HC-toxin | Irradiation | Oncology | Group 3 | HDAC INHIBITOR | NERVOUS-SYSTEM | INDUCED APOPTOSIS | INDUCE CELL-DEATH | VALPROIC ACID | CLINICAL NEUROLOGY | IN-VITRO | ONCOLOGY | POOR-PROGNOSIS | GENETIC PROFILES | PHASE-I | EXPRESSION | Oligonucleotide Array Sequence Analysis | Apoptosis - drug effects | Humans | Child, Preschool | Male | Gene Expression Profiling | Medulloblastoma - pathology | Biomarkers, Tumor - metabolism | Cerebellar Neoplasms - pathology | Tumor Cells, Cultured | Medulloblastoma - genetics | Disease Models, Animal | Cerebellar Neoplasms - drug therapy | In Situ Hybridization, Fluorescence | Cerebellar Neoplasms - genetics | Mice, SCID | Blotting, Western | Magnetic Resonance Imaging | Animals | Comparative Genomic Hybridization | Histone Deacetylase Inhibitors - pharmacology | Biomarkers, Tumor - genetics | Cell Proliferation - drug effects | Mice | Cell Cycle - drug effects | Medulloblastoma - drug therapy | Index Medicus | Drugs | Histone deacetylase | Prognosis | Wnt protein | Brain tumors | Glial fibrillary acidic protein | Cytology | Data processing | Transplantation | Isochromosomes | Myc protein | Gene expression | p53 protein | Metastases | Cell death | Hedgehog protein | Children
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5. Full Text Disseminated oligodendroglial cell-like leptomeningeal tumors: preliminary diagnostic and therapeutic results for a novel tumor entity
by Preuss, Matthias and Christiansen, Holger and Merkenschlager, Andreas and Hirsch, Franz Wolfgang and Kiess, Wieland and Müller, Wolf and Kästner, Stefanie and Henssler, Andreas and Pekrun, Arnulf and Hauch, Holger and Nathrath, Michaela and Meixensberger, Jürgen and Pietsch, Torsten and Kuchelmeister, Klaus
Journal of Neuro-Oncology, ISSN 0167-594X, 8/2015, Volume 124, Issue 1, pp. 65 - 74
Pediatric tumors of the central nervous system composed of oligoid tumor cells showing diffuse leptomeningeal spread without a primary mass lesion seem to... 
Neurology | Leptomeningeal gliomatosis | Medicine & Public Health | Diffuse leptomeningeal neuroepithelial tumor | Disseminated oligodendroglial-like leptomeningeal tumor | Hydrocephalus | Oncology | Diffuse leptomeningeal glioneuronal tumor | GLIONEURONAL TUMORS | NEOPLASMS | ONCOLOGY | CLINICAL NEUROLOGY | CHILDREN | Immunohistochemistry | Health aspects | Algorithms
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6. Full Text Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma
by Sturm, Dominik and Witt, Hendrik and Witt, Olaf and Hovestadt, Volker and Khuong-Quang, Dong-Anh and Jones, David T.W and Konermann, Carolin and Pfaff, Elke and Tönjes, Martje and Sill, Martin and Bender, Sebastian and Kool, Marcel and Zapatka, Marc and Becker, Natalia and Zucknick, Manuela and Hielscher, Thomas and Liu, Xiao-Yang and Fontebasso, Adam M and Ryzhova, Marina and Albrecht, Steffen and Jacob, Karine and Wolter, Marietta and Ebinger, Martin and Schuhmann, Martin U and van Meter, Timothy and Frühwald, Michael C and Hauch, Holger and Pekrun, Arnulf and Radlwimmer, Bernhard and Niehues, Tim and von Komorowski, Gregor and Dürken, Matthias and Kulozik, Andreas E and Madden, Jenny and Donson, Andrew and Foreman, Nicholas K and Drissi, Rachid and Fouladi, Maryam and Scheurlen, Wolfram and von Deimling, Andreas and Monoranu, Camelia and Roggendorf, Wolfgang and Herold-Mende, Christel and Unterberg, Andreas and Kramm, Christof M and Felsberg, Jörg and Hartmann, Christian and Wiestler, Benedikt and Wick, Wolfgang and Milde, Till and Lindroth, Anders M and Schwartzentruber, Jeremy and Faury, Damien and Fleming, Adam and Zakrzewska, Magdalena and Liberski, Pawel P and Zakrzewski, Krzysztof and Hauser, Peter and Garami, Miklos and Klekner, Almos and Bognar, Laszlo and Morrissy, Sorana and Cavalli, Florence and Taylor, Michael D and van Sluis, Peter and Koster, Jan and Versteeg, Rogier and Volckmann, Richard and Mikkelsen, Tom and Aldape, Kenneth and Reifenberger, Guido and Collins, V. Peter and Majewski, Jacek and Korshunov, Andrey and Lichter, Peter and Plass, Christoph and Jabado, Nada and Pfister, Stefan M
Cancer Cell, ISSN 1535-6108, 10/2012, Volume 22, Issue 4, pp. 425 - 437
Glioblastoma (GBM) is a brain tumor that carries a dismal prognosis and displays considerable heterogeneity. We have recently identified recurrent mutations... 
COPY-NUMBER ABERRATIONS | DNA METHYLATION | ONCOLOGY | INTEGRATED GENOMIC ANALYSIS | GENES | INTRINSIC PONTINE GLIOMAS | HISTONE H3.3 | HIGH-GRADE GLIOMAS | CLASS DISCOVERY | ONCOMETABOLITE 2-HYDROXYGLUTARATE | BRAIN-TUMORS | CELL BIOLOGY | Epigenesis, Genetic | Humans | Brain Neoplasms - pathology | Transcriptome | Brain Neoplasms - genetics | Isocitrate Dehydrogenase - genetics | DNA Methylation | Histones - genetics | Glioblastoma - genetics | Receptor, Platelet-Derived Growth Factor alpha - genetics | Glioblastoma - pathology | Adult | Mutation | Child | Medical colleges | Molecular genetics | Brain tumors | Oncology, Experimental | Children's hospitals | Amino acids | Research | DNA binding proteins | Glioblastoma multiforme | Risk factors | Stem cell research | Stem cells | Genetic research | Genetic aspects | Methylation | Cancer | Index Medicus
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7. Full Text Erratum to: Disseminated oligodendroglial-like leptomeningeal tumors: preliminary diagnostic and therapeutic results for a novel tumor entity
by Preuss, Matthias and Christiansen, Holger and Merkenschlager, Andreas and Hirsch, Franz Wolfgang and Kiess, Wieland and Müller, Wolf and Kästner, Stefanie and Henssler, Andreas and Pekrun, Arnulf and Hauch, Holger and Nathrath, Michaela and Meixensberger, Jürgen and Pietsch, Torsten and Kuchelmeister, Klaus
Journal of Neuro-Oncology, ISSN 0167-594X, 8/2015, Volume 124, Issue 1, pp. 75 - 77
Medicine & Public Health | Neurology | Oncology
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8. Full Text Abstract A25: Establishment of orthotopic patient-derived xenograft models of pediatric brain tumors – the Heidelberg experience
by Mack, Norman L and Brabetz, Sebastian and Selt, Florian and Christina, Xanthopolous and Sumerauer, David and Bächli, Heidi and Pekrun, Arnulf and Schuhmann, Martin U and Pfister, Stefan M and Witt, Olaf and Milde, Till and Kool, Marcel
Clinical Cancer Research, ISSN 1078-0432, 08/2016, Volume 22, Issue 16 Supplement, pp. A25 - A25
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9. Full Text Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
by Pagel, Julia and Beutel, Karin and Lehmberg, Kai and Koch, Florian and Maul-Pavicic, Andrea and Rohlfs, Anna-Katharina and Al-Jefri, Abdullah and Beier, Rita and Ousager, Lilian Bomme and Ehlert, Karoline and Gross-Wieltsch, Ute and Jorch, Norbert and Kremens, Bernhard and Pekrun, Arnulf and Sparber-Sauer, Monika and Mejstrikova, Ester and Wawer, Angela and Ehl, Stephan and Zur Stadt, Udo and Janka, Gritta
Blood, ISSN 0006-4971, 06/2012, Volume 119, Issue 25, pp. 6016 - 6024
Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically determined hyperinflammatory syndrome caused by uncontrolled immune response mediated by... 
GRANULE EXOCYTOSIS | SENSORINEURAL HEARING-LOSS | EPITHELIAL-CELLS | LINKED LYMPHOPROLIFERATIVE DISEASE | XIAP DEFICIENCY | PERFORIN GENE | HEMATOLOGY | SYNTAXIN 3 | PRIMARY IMMUNODEFICIENCY | GENOTYPE-PHENOTYPE | CHILDREN | Munc18 Proteins - genetics | Genetic Association Studies | Humans | Child, Preschool | Infant | Male | Lymphohistiocytosis, Hemophagocytic - ethnology | Young Adult | Mutation - physiology | Basophil Degranulation Test | DNA Mutational Analysis | Epistasis, Genetic | Models, Biological | Adolescent | Qa-SNARE Proteins - genetics | Adult | Female | Lymphohistiocytosis, Hemophagocytic - genetics | Child | Munc18 Proteins - physiology | Infant, Newborn | Lymphohistiocytosis, Hemophagocytic - classification | Cohort Studies | Index Medicus | Abridged Index Medicus
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10. Full Text Treatment and prognostic impact of transient leukemia in neonates with Down syndrome
by Klusmann, Jan-Henning and Creutzig, Ursula and Zimmermann, Martin and Dworzak, Michael and Jorch, Norbert and Langebrake, Claudia and Pekrun, Arnulf and Macakova-Reinhardt, Katarina and Reinhardt, Dirk
Blood, ISSN 0006-4971, 03/2008, Volume 111, Issue 6, pp. 2991 - 2998
Approximately 10% of the neonates with Down syndrome (DS) exhibit a unique transient leukemia (TL). Though TL resolves spontaneously in most patients, early... 
AML | CELLS | ACUTE MEGAKARYOBLASTIC LEUKEMIA | ABNORMAL MYELOPOIESIS | GENE-EXPRESSION | PEDIATRIC-ONCOLOGY-GROUP | ACUTE MYELOID-LEUKEMIA | HEMATOLOGY | GATA1 | CHEMOTHERAPY | CHILDREN | Down Syndrome - pathology | Leukemia - pathology | Prognosis | Humans | Leukemia - therapy | Down Syndrome - epidemiology | Immunophenotyping | Male | Survival Rate | Treatment Outcome | Leukemia - complications | Down Syndrome - genetics | Down Syndrome - complications | Female | Infant, Newborn | Leukemia - epidemiology | Index Medicus | Abridged Index Medicus | Clinical Trials and Observations
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11. Full Text Butyrate-induced erythroid differentiation of human K562 leukemia cells involves inhibition of ERK and activation of p38 MAP kinase pathways
by Witt, Olaf and Sand, Katrin and Pekrun, Arnulf
Blood, ISSN 0006-4971, 04/2000, Volume 95, Issue 7, pp. 2391 - 2396
Butyrate induces cytodifferentiation in many tumor cells of different origin, suggesting that an as yet unidentified common mechanism inherent to malignant... 
TRANSFORMATION | ERYTHROPOIETIN | RETINOIC ACID | SODIUM-BUTYRATE | LINE | ANTINEOPLASTIC AGENTS | PROLIFERATION | HEMATOLOGY | MAMMALIAN-CELLS | HEMATOPOIETIC GROWTH-FACTORS | PROTEIN-KINASES | Protein Kinases - metabolism | Phosphorylation | Butyrates - pharmacology | Humans | Enzyme Inhibitors - pharmacology | Enzyme Activation - drug effects | Mitogen-Activated Protein Kinase 9 | Mitogen-Activated Protein Kinases - antagonists & inhibitors | Signal Transduction - drug effects | Cell Differentiation - drug effects | Leukemia, Erythroblastic, Acute - pathology | K562 Cells | Erythrocytes - pathology | JNK Mitogen-Activated Protein Kinases | Leukemia, Erythroblastic, Acute - enzymology | p38 Mitogen-Activated Protein Kinases | Calcium-Calmodulin-Dependent Protein Kinases - metabolism | Mitogen-Activated Protein Kinases - metabolism | Index Medicus | Abridged Index Medicus
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12. Full Text Phase 1/2 intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia
by van Tilburg, CM and Milde, T and Witt, R and Ecker, J and Seitz, A and Schenk, JP
JOURNAL OF CLINICAL ONCOLOGY, ISSN 0732-183X, 05/2018, Volume 36, Issue 15, pp. 10535 - 10535
ONCOLOGY
Conference Proceeding
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13. Full Text Omission of doxorubicin from the treatment of stage II–III, intermediate-risk Wilms' tumour (SIOP WT 2001): an open-label, non-inferiority, randomised controlled trial
by Pritchard-Jones, Kathy, Prof and Bergeron, Christophe, MD and de Camargo, Beatriz, MD and van den Heuvel-Eibrink, Marry M, MD and Acha, Tomas, MD and Godzinski, Jan, MD and Oldenburger, Foppe, MD and Boccon-Gibod, Liliane, MD and Leuschner, Ivo, Prof and Vujanic, Gordan, Prof and Sandstedt, Bengt, MD and de Kraker, Jan, MD and van Tinteren, Harm, PhD and Graf, Norbert, MD and SIOP Renal Tumours Study Grp and SIOP Renal Tumours Study Group
Lancet, The, ISSN 0140-6736, 2015, Volume 386, Issue 9999, pp. 1156 - 1164
Summary Background Before this study started, the standard postoperative chemotherapy regimen for stage II–III Wilms' tumour pretreated with chemotherapy was... 
Internal Medicine | FAVORABLE-HISTOLOGY | MEDICINE, GENERAL & INTERNAL | CHILDHOOD-CANCER | INTERNATIONAL-SOCIETY | CARDIAC EVENTS | RENAL TUMORS | SURVIVORS | PEDIATRIC-ONCOLOGY | CHEMOTHERAPY | EQUIVALENCE | CHILDREN | Humans | Wilms Tumor - drug therapy | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Child, Preschool | Infant | Male | Kidney Neoplasms - surgery | Nephrectomy | Chemotherapy, Adjuvant - adverse effects | Dactinomycin - adverse effects | Vincristine - administration & dosage | Female | Child | Doxorubicin - administration & dosage | Kaplan-Meier Estimate | Treatment Outcome | Dactinomycin - administration & dosage | Wilms Tumor - pathology | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Chemotherapy, Adjuvant - methods | Neoadjuvant Therapy - adverse effects | Neoadjuvant Therapy - methods | Adolescent | Vincristine - adverse effects | Kidney Neoplasms - pathology | Kidney Neoplasms - drug therapy | Neoplasm Staging | Doxorubicin - adverse effects | Wilms Tumor - surgery | Care and treatment | Chemotherapy | Anthracyclines | Children | Health aspects | Tumors | Cancer | Histology | Biopsy | Medical prognosis | Clinical outcomes | Index Medicus | Abridged Index Medicus | Medical and Health Sciences | Medicin och hälsovetenskap
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