Search Results - (Author, Cooperation:A. E. Kulozik)
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1Latest Papers from Table of Contents or Articles in PressP. A. Northcott ; C. Lee ; T. Zichner ; A. M. Stutz ; S. Erkek ; D. Kawauchi ; D. J. Shih ; V. Hovestadt ; M. Zapatka ; D. Sturm ; D. T. Jones ; M. Kool ; M. Remke ; F. M. Cavalli ; S. Zuyderduyn ; G. D. Bader ; S. VandenBerg ; L. A. Esparza ; M. Ryzhova ; W. Wang ; A. Wittmann ; S. Stark ; L. Sieber ; H. Seker-Cin ; L. Linke ; F. Kratochwil ; N. Jager ; I. Buchhalter ; C. D. Imbusch ; G. Zipprich ; B. Raeder ; S. Schmidt ; N. Diessl ; S. Wolf ; S. Wiemann ; B. Brors ; C. Lawerenz ; J. Eils ; H. J. Warnatz ; T. Risch ; M. L. Yaspo ; U. D. Weber ; C. C. Bartholomae ; C. von Kalle ; E. Turanyi ; P. Hauser ; E. Sanden ; A. Darabi ; P. Siesjo ; J. Sterba ; K. Zitterbart ; D. Sumerauer ; P. van Sluis ; R. Versteeg ; R. Volckmann ; J. Koster ; M. U. Schuhmann ; M. Ebinger ; H. L. Grimes ; G. W. Robinson ; A. Gajjar ; M. Mynarek ; K. von Hoff ; S. Rutkowski ; T. Pietsch ; W. Scheurlen ; J. Felsberg ; G. Reifenberger ; A. E. Kulozik ; A. von Deimling ; O. Witt ; R. Eils ; R. J. Gilbertson ; A. Korshunov ; M. D. Taylor ; P. Lichter ; J. O. Korbel ; R. J. Wechsler-Reya ; S. M. Pfister
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-07-22Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Child ; Chromosomes, Human, Pair 9/genetics ; DNA-Binding Proteins/*genetics/metabolism ; Enhancer Elements, Genetic/*genetics ; Genomic Structural Variation/*genetics ; Humans ; Medulloblastoma/classification/*genetics/pathology ; Mice ; Oncogenes/*genetics ; Proto-Oncogene Proteins/*genetics/metabolism ; Repressor Proteins/*genetics/metabolism ; Transcription Factors/*genetics/metabolismPublished by: -
2Latest Papers from Table of Contents or Articles in PressS. C. Mack ; H. Witt ; R. M. Piro ; L. Gu ; S. Zuyderduyn ; A. M. Stutz ; X. Wang ; M. Gallo ; L. Garzia ; K. Zayne ; X. Zhang ; V. Ramaswamy ; N. Jager ; D. T. Jones ; M. Sill ; T. J. Pugh ; M. Ryzhova ; K. M. Wani ; D. J. Shih ; R. Head ; M. Remke ; S. D. Bailey ; T. Zichner ; C. C. Faria ; M. Barszczyk ; S. Stark ; H. Seker-Cin ; S. Hutter ; P. Johann ; S. Bender ; V. Hovestadt ; T. Tzaridis ; A. M. Dubuc ; P. A. Northcott ; J. Peacock ; K. C. Bertrand ; S. Agnihotri ; F. M. Cavalli ; I. Clarke ; K. Nethery-Brokx ; C. L. Creasy ; S. K. Verma ; J. Koster ; X. Wu ; Y. Yao ; T. Milde ; P. Sin-Chan ; J. Zuccaro ; L. Lau ; S. Pereira ; P. Castelo-Branco ; M. Hirst ; M. A. Marra ; S. S. Roberts ; D. Fults ; L. Massimi ; Y. J. Cho ; T. Van Meter ; W. Grajkowska ; B. Lach ; A. E. Kulozik ; A. von Deimling ; O. Witt ; S. W. Scherer ; X. Fan ; K. M. Muraszko ; M. Kool ; S. L. Pomeroy ; N. Gupta ; J. Phillips ; A. Huang ; U. Tabori ; C. Hawkins ; D. Malkin ; P. N. Kongkham ; W. A. Weiss ; N. Jabado ; J. T. Rutka ; E. Bouffet ; J. O. Korbel ; M. Lupien ; K. D. Aldape ; G. D. Bader ; R. Eils ; P. Lichter ; P. B. Dirks ; S. M. Pfister ; A. Korshunov ; M. D. Taylor
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-02-21Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Animals ; Brain Neoplasms/drug therapy/genetics ; CpG Islands/*genetics ; DNA Methylation/drug effects ; Embryonic Stem Cells/metabolism ; Ependymoma/drug therapy/*genetics ; Epigenesis, Genetic/*genetics ; Epigenomics ; Female ; Gene Expression Regulation, Neoplastic ; Gene Silencing/drug effects ; Histones/drug effects/metabolism ; Humans ; Infant ; Mice ; Mice, Inbred NOD ; Mice, SCID ; Mutation/genetics ; Phenotype ; Polycomb Repressive Complex 2/metabolism ; Prognosis ; Rhombencephalon/pathology ; Xenograft Model Antitumor AssaysPublished by: -
3Latest Papers from Table of Contents or Articles in PressD. T. Jones ; N. Jager ; M. Kool ; T. Zichner ; B. Hutter ; M. Sultan ; Y. J. Cho ; T. J. Pugh ; V. Hovestadt ; A. M. Stutz ; T. Rausch ; H. J. Warnatz ; M. Ryzhova ; S. Bender ; D. Sturm ; S. Pleier ; H. Cin ; E. Pfaff ; L. Sieber ; A. Wittmann ; M. Remke ; H. Witt ; S. Hutter ; T. Tzaridis ; J. Weischenfeldt ; B. Raeder ; M. Avci ; V. Amstislavskiy ; M. Zapatka ; U. D. Weber ; Q. Wang ; B. Lasitschka ; C. C. Bartholomae ; M. Schmidt ; C. von Kalle ; V. Ast ; C. Lawerenz ; J. Eils ; R. Kabbe ; V. Benes ; P. van Sluis ; J. Koster ; R. Volckmann ; D. Shih ; M. J. Betts ; R. B. Russell ; S. Coco ; G. P. Tonini ; U. Schuller ; V. Hans ; N. Graf ; Y. J. Kim ; C. Monoranu ; W. Roggendorf ; A. Unterberg ; C. Herold-Mende ; T. Milde ; A. E. Kulozik ; A. von Deimling ; O. Witt ; E. Maass ; J. Rossler ; M. Ebinger ; M. U. Schuhmann ; M. C. Fruhwald ; M. Hasselblatt ; N. Jabado ; S. Rutkowski ; A. O. von Bueren ; D. Williamson ; S. C. Clifford ; M. G. McCabe ; V. P. Collins ; S. Wolf ; S. Wiemann ; H. Lehrach ; B. Brors ; W. Scheurlen ; J. Felsberg ; G. Reifenberger ; P. A. Northcott ; M. D. Taylor ; M. Meyerson ; S. L. Pomeroy ; M. L. Yaspo ; J. O. Korbel ; A. Korshunov ; R. Eils ; S. M. Pfister ; P. Lichter
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-07-27Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Aging/genetics ; Amino Acid Sequence ; Cell Transformation, Neoplastic ; Cerebellar Neoplasms/classification/diagnosis/*genetics/pathology ; Child ; Chromatin/metabolism ; Chromosomes, Human/genetics ; DEAD-box RNA Helicases/genetics ; DNA Helicases/genetics ; DNA-Binding Proteins/genetics ; Genome, Human/*genetics ; Genomics ; Hedgehog Proteins/metabolism ; High-Throughput Nucleotide Sequencing ; Histone Demethylases/genetics ; Humans ; Medulloblastoma/classification/diagnosis/*genetics/pathology ; Methylation ; Mutation/genetics ; Mutation Rate ; Neoplasm Proteins/genetics ; Nuclear Proteins/genetics ; Oncogene Proteins, Fusion/genetics ; Phosphoprotein Phosphatases/genetics ; Polyploidy ; Receptors, Cell Surface/genetics ; Sequence Analysis, RNA ; Signal Transduction ; T-Box Domain Proteins/genetics ; Transcription Factors/genetics ; Wnt Proteins/metabolism ; beta Catenin/geneticsPublished by: -
4Latest Papers from Table of Contents or Articles in PressJ. Schwartzentruber ; A. Korshunov ; X. Y. Liu ; D. T. Jones ; E. Pfaff ; K. Jacob ; D. Sturm ; A. M. Fontebasso ; D. A. Quang ; M. Tonjes ; V. Hovestadt ; S. Albrecht ; M. Kool ; A. Nantel ; C. Konermann ; A. Lindroth ; N. Jager ; T. Rausch ; M. Ryzhova ; J. O. Korbel ; T. Hielscher ; P. Hauser ; M. Garami ; A. Klekner ; L. Bognar ; M. Ebinger ; M. U. Schuhmann ; W. Scheurlen ; A. Pekrun ; M. C. Fruhwald ; W. Roggendorf ; C. Kramm ; M. Durken ; J. Atkinson ; P. Lepage ; A. Montpetit ; M. Zakrzewska ; K. Zakrzewski ; P. P. Liberski ; Z. Dong ; P. Siegel ; A. E. Kulozik ; M. Zapatka ; A. Guha ; D. Malkin ; J. Felsberg ; G. Reifenberger ; A. von Deimling ; K. Ichimura ; V. P. Collins ; H. Witt ; T. Milde ; O. Witt ; C. Zhang ; P. Castelo-Branco ; P. Lichter ; D. Faury ; U. Tabori ; C. Plass ; J. Majewski ; S. M. Pfister ; N. Jabado
Nature Publishing Group (NPG)
Published 2012Staff ViewPublication Date: 2012-01-31Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Adaptor Proteins, Signal Transducing/genetics ; Base Sequence ; Child ; Chromatin/*genetics/metabolism ; Chromatin Assembly and Disassembly/*genetics ; DNA Helicases/genetics ; DNA Mutational Analysis ; Exome/genetics ; Gene Expression Profiling ; Glioblastoma/*genetics ; Histones/*genetics/metabolism ; Humans ; Molecular Sequence Data ; Mutation/*genetics ; Nuclear Proteins/genetics ; Telomere/genetics ; Tumor Suppressor Protein p53/geneticsPublished by: -
5Articles: DFG German National LicensesStaff View
ISSN: 1432-0584Keywords: β-Thalassemia ; α-Thalassemia ; Thalassemia intermediaSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Summary The relative excess of α- over β-globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous β-thalassemia. The clinical picture is usually characterized by a transfusion-dependent dyserythropoietic anemia (thalassemia major). However, some patients present with moderate anemia that does not require regular blood transfusions (thalassemia intermedia). The molecular heterogeneity of β-thalassemia mutations and changes of α- and γ-globin gene expression play an important role in modifying the clinical phenotype. We report here on a female Greek patient with homozygous β-thalassemia but normal growth and development, excellent exercise tolerance, and no need of blood transfusions. She is thus mildly affected clinically, although there is marked pallor, jaundice, and hepatosplenomegaly. These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. β-Globin genotyping shows her to be compound heterozygous for the codon 39 C → T β∘-nonsense mutation and for the T → C β+-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C → T/IVS 1–6 T → C). α-Globin gene mapping demonstrates the presence of a 3.7-kb α+-thalassemia deletion on one allele (−α3.7/αα). Taken together, this study identifies a complex interaction of genetic factors that do not significantly alter the clinical phenotype when present alone but ameliorate the course of homozygous β-thalassemia when inherited in combination.Type of Medium: Electronic ResourceURL: -
6Articles: DFG German National LicensesLindner, M. ; Wolf, A. ; Moh, B. ; Steinbach, P. ; Kleihauer, E. ; Bartram, C. R. ; Kulozik, A. E.
Springer
Published 1992Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Abstract The cystic fibrosis transmembrane conductance regulator (CFTR) gene of 110 cystic fibrosis (CF) patients from the south-west of Germany was screened for 12 different mutations. This analysis resulted in an identification of 79% of all CF mutations and a complete genotype in 66% of the families. The most common mutation found was ΔF508 (67%). Another 5 mutations accounted for a further 12.5% (4% G542X; 3% R553X; 3% N1303K; 2% 1717-1 G→A; 0.5% G551D) whereas 6 mutations (R117H, A455E, ΔI507, S549I, S549N, and R1162X) were not found. Fifty-four (49%) patients were AF508 homozygotes and 18 (16.5%) were compound heterozygotes for ΔF508 and one of the rarer mutations. These frequencies differ slightly from those found in the north of Germany and considerably from those reported from the south of Europe, which seems to be consistent with a north to south decline of the relative abundance of ΔF508. Two patients, age 6 and 25 years, were compound heterozygotes for G542X and N1303K. The clinical features of the 6 year old were characterised by severe gastrointestinal and as yet only mild pulmonary complications whereas the 25 year old manifested severe pulmonary and gastrointestinal symptoms indicating that the N1303K mutation of the C-terminal CFTR nucleotide binding fold significantly impairs protein function in both the pancreas and the lungs.Type of Medium: Electronic ResourceURL: -
7Articles: DFG German National LicensesWainscoat, J. S. ; Kulozik, A. E. ; Ramsay, M. ; Falusi, A. G. ; Weatherall, D. J.
Springer
Published 1986Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary The allele frequency of a Taq 1 γ-globin gene restriction fragment length polymorphism (RFLP) is reported in ten population groups. In four African populations the 3.0 kb RFLP is common (50/132 {ie90-1} chromosomes), whereas it is completely absent in six European/Asian populations (0/277 {ie90-2} chromosomes). This Taq 1 RFLP is thus a specific African population marker.Type of Medium: Electronic ResourceURL: -
8Articles: DFG German National LicensesUttenreuther-Fischer, M. M. ; Vetter, B. ; Hellmann, C. ; Otting, U. ; Ziemer, S. ; Hausdorf, G. ; Gaedicke, G. ; Kulozik, A. E.
Springer
Published 1997Staff ViewISSN: 1432-1076Keywords: Keywords Thrombosis ; Activated protein C resistance ; Protein C deficiencySource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract In many children, the pathogenesis of thrombo-embolism remains unexplained. This study examines the role of non-genetic risk factors in 37 children with venous or arterial thrombosis. Included were 17 patients with portal vein thrombosis following umbilical vein catheterisation, 6 with portal vein thrombosis and an uneventful neonatal period, 4 with deep vein␣thrombosis, 4 with renal vein thrombosis after kidney transplantation, 1 haemodialysis patient with thromboses of arteriovenous shunts, and 5 with arterial thromboses at various sites. In 25 of these 37 patients (68%) exogenic risk factors and particularly vascular manipulations (24/37) were related to the thrombotic event. Resistance to activated protein C was identified in 5 patients and protein C deficiency in 2 (7/37; 19%). This prevalence was significantly higher than that of the control group (14/243; 5.8%; χ2, P 〈 0.008). Conclusion Our data show that non-genetic and particular iatrogenic risk factors can often be identified in children with thrombosis, but activated protein C resistance and protein C deficiency are significant genetic risk factors in this age group.Type of Medium: Electronic ResourceURL: -
9Articles: DFG German National LicensesStaff View
ISSN: 1432-1076Source: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Conclusions The observed clinical variability of β-thalassaemia can be explained by the heterogeneity of pathological changes of the β-globin gene cluster. It can be seen that the clinical expression of this “monogenic” trait depends on the nature of the β-globin gene lesion itself as well as on influences exerted by genetic changes affecting the α- and the γ-globin genes. Practically, the advances in the molecular understanding of this disease facilitated selective screening and prenatal diagnosis programmes resulting in a much decreased burden of medical services particularly in endemic countries such as Cyprus or Sardinia. Much effort is presently directed towards the improvement of patient management by developing somatic gene therapy strategies. However, it will probably take quite some time before this option will be available to the peadiatrician in clinical practice.Type of Medium: Electronic ResourceURL: -
10Articles: DFG German National LicensesWeih, M. ; Vetter, B. ; Ziemer, S. ; Mehraein, S. ; Valdueza, J. M. ; Koscielny, J. ; Kulozik, A. E. ; Einhäupl, K. M.
Springer
Published 1998Staff ViewISSN: 1432-1459Keywords: Key words Activated protein C ; resistance ; Thrombophilia ; Coagulation system ; StrokeSource: Springer Online Journal Archives 1860-2000Topics: MedicineNotes: Abstract We investigated the association between cerebral venous thrombosis and hereditary resistance to activated protein C (APC) in 12 consecutive German patients with non-fatal cerebral venous thrombosis and in 187 controls without a history of thrombotic disorder. Three patients (25%) had a mutation in the factor V Leiden gene against only one subject in the control group. This difference was significant (P〈0.05), with an odds ratio of 11.7 (1.5–87 ; 95% confidence interval). Two patients carrying the mutation had additional common risk factors for thrombosis, and 2 had a positive family history of thromboembolism. We conclude that inherited APC resistance by a mutation in factor V Leiden is an important risk factor in non-fatal cerebral venous thrombosis. We recommend testing for APC resistance and, if abnormal for factor V Leiden mutation in patients with cerebral venous thrombosis.Type of Medium: Electronic ResourceURL: -
11Articles: DFG German National LicensesMonteiro, C. ; Rueff, J. ; Falcao, A. B. ; Portugal, S. ; Weatherall, D. J. ; Kulozik, A. E.
Springer
Published 1989Staff ViewISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary The frequency of the βs mutation in the district of Coruche/Portugal is estimated to be about 4% from analysis of a group of 181 school children and their teachers in an area in which malaria has been endemic until recently. Several white Portuguese patients with sickle cell disease (six homozygous SS and one Sβ° thalassaemia) were found in a group of 309 further patients who were known and followed up by local medical practitioners. These patients had clinical and haematological features similar to patients of African origin, although their growth and sexual development appeared to be normal. The analysis of an array of polymorphic restriction sites within the βs globin gene cluster (βs haplotype) showed patterns that are known to occur in Africa. The frequencies of the three main African βs haplotypes termed Senegal, Bantu, and Benin reflect the extent of Portuguese naval explorations. It is concluded that the sickle cell gene in Portugal has probably been imported from Africa and has been amplified in comparison with other genes characteristic for African races because of the selective advantage of AS heterozygotes in an area endemic for malaria.Type of Medium: Electronic ResourceURL: