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    Wyświetlanie 1-4 z 4
    Tytuł:
    Recurrent Germline Variant in RAD21 Predisposes Children to Lymphoblastic Leukemia or Lymphoma.
    Autorzy:
    Schedel A; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
    Friedrich UA; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
    Morcos MNF; Department of Pediatrics, School of Medicine, Technical University of Munich; 80804 Munich, Germany.
    Wagener R; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
    Mehtonen J; Institute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
    Watrin T; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
    Saitta C; Tettamanti Research Center, Pediatrics, University of Milan Bicocca, Fondazione MBBM/San Gerardo Hospital, 20900 Monza, Italy.
    Brozou T; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
    Michler P; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
    Walter C; Institute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.
    Försti A; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.; Hopp Children's Cancer Center Heidelberg (KiTZ), 69120 Heidelberg, Germany.
    Baksi A; Institute of Physiological Chemistry, Medical Faculty Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
    Menzel M; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
    Horak P; Division of Translational Medical Oncology, National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
    Paramasivam N; Computational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany.
    Fazio G; Tettamanti Research Center, Pediatrics, University of Milan Bicocca, Fondazione MBBM/San Gerardo Hospital, 20900 Monza, Italy.
    Autry RJ; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.; Hopp Children's Cancer Center Heidelberg (KiTZ), 69120 Heidelberg, Germany.
    Fröhling S; Division of Translational Medical Oncology, National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
    Suttorp M; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
    Gertzen C; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-Universität Duesseldorf, Universitätsstraße 1, 40225 Duesseldorf, Germany.
    Gohlke H; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-Universität Duesseldorf, Universitätsstraße 1, 40225 Duesseldorf, Germany.; John von Neumann Institute for Computing (NIC), Jülich Supercomputing Centre (JSC), Institute of Biological Information Processing (IBI-7: Structural Biochemistry), Forschungszentrum Jülich GmbH, 52425 Jülich, Germany.
    Bhatia S; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
    Wadt K; Department of Clinical Genetics, University Hospital of Copenhagen, Faculty of health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark.
    Schmiegelow K; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.
    Dugas M; Institute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.; Institute of Medical Informatics, Heidelberg University Hospital, 69120 Heidelberg, Germany.
    Richter D; Department of Translational Medical Oncology, National Center for Tumor Diseases (NCT) Dresden, 01307 Dresden, Germany.; German Cancer Consortium (DKTK), 01307 Dresden, Germany.
    Glimm H; Department of Translational Medical Oncology, National Center for Tumor Diseases (NCT) Dresden, 01307 Dresden, Germany.; German Cancer Consortium (DKTK), 01307 Dresden, Germany.; Translational Functional Cancer Genomics, National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
    Heinäniemi M; Institute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
    Jessberger R; Institute of Physiological Chemistry, Medical Faculty Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
    Cazzaniga G; Tettamanti Research Center, Pediatrics, University of Milan Bicocca, Fondazione MBBM/San Gerardo Hospital, 20900 Monza, Italy.; Medical Genetics, Department of Medicine and Surgery, University of Milan Bicocca, 20900 Monza, Italy.
    Borkhardt A; Department of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
    Hauer J; Department of Pediatrics, School of Medicine, Technical University of Munich; 80804 Munich, Germany.; German Cancer Consortium (DKTK), 81675 Munich, Germany.
    Auer F; Department of Pediatrics, School of Medicine, Technical University of Munich; 80804 Munich, Germany.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2022 May 05; Vol. 23 (9). Date of Electronic Publication: 2022 May 05.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Cell Cycle Proteins*/genetics
    Cell Cycle Proteins*/metabolism
    DNA-Binding Proteins*/genetics
    Lymphoma*/genetics
    Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics
    Apoptosis ; Cell Line, Tumor ; Child ; De Lange Syndrome/genetics ; G2 Phase Cell Cycle Checkpoints ; Germ Cells/metabolism ; Humans ; Mutation ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood.
    Autorzy:
    Michler P; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.
    Schedel A; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.
    Witschas M; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.
    Friedrich UA; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.
    Wagener R; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany.
    Mehtonen J; Institute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
    Brozou T; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany.
    Menzel M; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.
    Walter C; Institute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.
    Nabi D; Department of Neuropediatrics Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, 10117 Berlin, Germany.
    Pearce G; Institute of Physiological Chemistry, Medical Faculty 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.
    Erlacher M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Faculty of Medicine, University Medical Center Freiburg, 79106 Freiburg, Germany.; German Cancer Consortium (DKTK), 79106 Freiburg, Germany.; German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
    Göhring G; Department of Human Genetics, Hannover Medical School, 30625 Hannover, Germany.
    Dugas M; Institute of Medical Informatics, Heidelberg University Hospital, 69120 Heidelberg, Germany.
    Heinäniemi M; Institute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
    Borkhardt A; Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany.
    Stölzel F; Hematology and Oncology, University Hospital 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.
    Hauer J; Pediatric Hematology and Oncology, Department of Pediatrics, University Hospital 'Carl Gustav Carus', TU Dresden, 01307 Dresden, Germany.; National Center for Tumor Diseases (NCT), 01307 Dresden, Germany.
    Auer F; National Center for Tumor Diseases (NCT), 01307 Dresden, Germany.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2021 Oct 26; Vol. 22 (21). Date of Electronic Publication: 2021 Oct 26.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Genetic Predisposition to Disease/*genetics
    Leukemia, Myeloid, Acute/*genetics
    Myeloproliferative Disorders/*genetics
    Shelterin Complex/*genetics
    Telomere-Binding Proteins/*genetics
    Adult ; DNA Damage/genetics ; Germ Cells ; Germ-Line Mutation/genetics ; HEK293 Cells ; Humans ; Myeloid Cells ; RNA, Messenger/genetics ; Telomere/genetics ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy.
    Autorzy:
    Beer A; Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    Beck R; Department of Pediatric Surgery, University Hospital Carl Gustav Carus, Dresden, Germany.; Pediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    Schedel A; Pediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    von Bonin M; Medical Clinic I, University Hospital Carl Gustav Carus, Dresden, Germany.; German Cancer Consortium (DKTK, Dresden, Germany.; German Cancer Research Center (DKFZ, Heidelberg, Germany.
    Meinel J; Institute of Pathology, University Hospital Carl Gustav Carus, Dresden, Germany.
    Friedrich UA; Pediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    Menzel M; Pediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    Suttorp M; Medical Faculty, Pediatric Hematology & Oncology, Technical University, Dresden, Germany.
    Brenner S; Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    Fitze G; Department of Pediatric Surgery, University Hospital Carl Gustav Carus, Dresden, Germany.
    Lange B; Pediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    Knöfler R; Pediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.
    Hauer J; Pediatric Oncology and Hematology, Department of Pediatrics, University Hospital Carl Gustav Carus, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
    Auer F; National Center for Tumor Diseases (NCT), Dresden, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Sep; Vol. 9 (9), pp. e1746. Date of Electronic Publication: 2021 Aug 12.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Fanconi Anemia Complementation Group N Protein/*genetics
    Sarcoma, Myeloid/*genetics
    Spinal Neoplasms/*genetics
    Cells, Cultured ; Fanconi Anemia Complementation Group N Protein/metabolism ; Fibroblasts/metabolism ; Fibroblasts/physiology ; G2 Phase Cell Cycle Checkpoints ; Germ-Line Mutation ; Humans ; Infant ; Male ; Sarcoma, Myeloid/pathology ; Spinal Neoplasms/pathology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A chemical kinetic basis for measuring translation initiation and elongation rates from ribosome profiling data.
    Autorzy:
    Sharma AK; Department of Chemistry, Pennsylvania State University, University Park, Pennsylvania, United States of America.
    Sormanni P; Centre for Misfolding Diseases, Department of Chemistry, University of Cambridge, Cambridge, United Kingdom.
    Ahmed N; Bioinformatics and Genomics Graduate Program, The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania, United States of America.
    Ciryam P; Centre for Misfolding Diseases, Department of Chemistry, University of Cambridge, Cambridge, United Kingdom.
    Friedrich UA; Center for Molecular Biology of the Heidelberg University (ZMBH), DKFZ-ZMBH Alliance, Heidelberg, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
    Kramer G; Center for Molecular Biology of the Heidelberg University (ZMBH), DKFZ-ZMBH Alliance, Heidelberg, Germany.; German Cancer Research Center (DKFZ), Heidelberg, Germany.
    O'Brien EP; Department of Chemistry, Pennsylvania State University, University Park, Pennsylvania, United States of America.; Bioinformatics and Genomics Graduate Program, The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania, United States of America.; Institute for CyberScience, Pennsylvania State University, University Park, Pennsylvania, United States of America.
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    Źródło:
    PLoS computational biology [PLoS Comput Biol] 2019 May 23; Vol. 15 (5), pp. e1007070. Date of Electronic Publication: 2019 May 23 (Print Publication: 2019).
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
    MeSH Terms:
    Peptide Chain Elongation, Translational*
    Peptide Chain Initiation, Translational*
    Animals ; Codon/genetics ; Codon/metabolism ; Computational Biology ; Computer Simulation ; Kinetics ; Mice ; Models, Biological ; Mouse Embryonic Stem Cells/metabolism ; Nucleic Acid Conformation ; RNA Caps/chemistry ; RNA Caps/genetics ; RNA Caps/metabolism ; RNA, Fungal/chemistry ; RNA, Fungal/genetics ; RNA, Fungal/metabolism ; Ribosomes/metabolism ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism ; Transcriptome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-4 z 4

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