ArticleInternational journal of molecular sciences2022
Recurrent Germline Variant in
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Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 36% of its field
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- Cohesin mutations in acute myeloid leukemia.Leukemia · 2024Review
- Optical Genome Mapping Identifies Novel Recurrent Structural Alterations in ChildhoodHemaSphere · 2023Article
- Genetics and Epigenetics in Complex Diseases.International journal of molecular sciences · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors at 13 institutions in 4 countries.
Anne SchedelPediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
Ulrike Anne FriedrichPediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.ORCID 0000-0001-7295-4549
Mina N F MorcosDepartment of Pediatrics, School of Medicine, Technical University of Munich; 80804 Munich, Germany.ORCID 0000-0001-5812-9526
Rabea WagenerDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
Juha MehtonenInstitute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
Titus WatrinDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
Claudia SaittaTettamanti Research Center, Pediatrics, University of Milan Bicocca, Fondazione MBBM/San Gerardo Hospital, 20900 Monza, Italy.ORCID 0000-0002-5842-7774
Triantafyllia BrozouDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.
Pia MichlerPediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
Carolin WalterInstitute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.
Asta FörstiDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.ORCID 0000-0002-9857-4728
Arka BaksiInstitute of Physiological Chemistry, Medical Faculty Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
Maria MenzelPediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.
Peter HorakDivision of Translational Medical Oncology, National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Nagarajan ParamasivamComputational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany.
Grazia FazioTettamanti Research Center, Pediatrics, University of Milan Bicocca, Fondazione MBBM/San Gerardo Hospital, 20900 Monza, Italy.
Robert J AutryDivision of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), 69120 Heidelberg, Germany.ORCID 0000-0002-6965-2942
Stefan FröhlingDivision of Translational Medical Oncology, National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Meinolf SuttorpPediatric Hematology and Oncology, Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.ORCID 0000-0002-9522-8838
Christoph GertzenInstitute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-Universität Duesseldorf, Universitätsstraße 1, 40225 Duesseldorf, Germany.
Holger GohlkeInstitute for Pharmaceutical and Medicinal Chemistry, Heinrich-Heine-Universität Duesseldorf, Universitätsstraße 1, 40225 Duesseldorf, Germany.ORCID 0000-0001-8613-1447
Sanil BhatiaDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.ORCID 0000-0001-6494-7744
Karin WadtDepartment of Clinical Genetics, University Hospital of Copenhagen, Faculty of health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark.
Kjeld SchmiegelowDepartment of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.
Martin DugasInstitute of Medical Informatics, University of Muenster, 48149 Muenster, Germany.ORCID 0000-0001-9740-0788
Daniela RichterDepartment of Translational Medical Oncology, National Center for Tumor Diseases (NCT) Dresden, 01307 Dresden, Germany.
Hanno GlimmDepartment of Translational Medical Oncology, National Center for Tumor Diseases (NCT) Dresden, 01307 Dresden, Germany.
Merja HeinäniemiInstitute of Biomedicine, School of Medicine, University of Eastern Finland, Yliopistonranta 1, FI-70211 Kuopio, Finland.
Rolf JessbergerInstitute of Physiological Chemistry, Medical Faculty Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany.ORCID 0000-0002-2972-2192
Gianni CazzanigaTettamanti Research Center, Pediatrics, University of Milan Bicocca, Fondazione MBBM/San Gerardo Hospital, 20900 Monza, Italy.
Arndt BorkhardtDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Heinrich-Heine University Duesseldorf, Medical Faculty, 40225 Duesseldorf, Germany.ORCID 0000-0002-6121-4737
Julia HauerDepartment of Pediatrics, School of Medicine, Technical University of Munich; 80804 Munich, Germany.ORCID 0000-0002-4058-3058
Franziska AuerDepartment of Pediatrics, School of Medicine, Technical University of Munich; 80804 Munich, Germany.ORCID 0000-0002-1193-6002
University Hospital Carl Gustav Carus · DEHeinrich Heine University Düsseldorf · DEGerman Cancer Research Center · DEUniversity of Milano-Bicocca · ITNational Center for Tumor Diseases · DETechnical University of Munich · DEUniversity of Eastern Finland · FICopenhagen University Hospital · DKDeutschen Konsortium für Translationale Krebsforschung · DEForschungszentrum Jülich · DEHeidelberg University · DEUniversity of Copenhagen · DKUniversity of Münster · DE
Funding
Deutsche Forschungsgemeinschaft JE150/31-1ERA Per Med JTC 2018 "GEPARD"European Research Council (ERC) Stg 85222 "PreventALL"German Cancer Aid 70114539Italian Association for Cancer Research IG2018 n.21999
Abstract
Somatic loss of function mutations in cohesin genes are frequently associated with various cancer types, while cohesin disruption in the germline causes cohesinopathies such as Cornelia-de-Lange syndrome (CdLS). Here, we present the discovery of a recurrent heterozygous
Indexed as
Cell Cycle ProteinsDNA-Binding ProteinsLymphomaPrecursor Cell Lymphoblastic Leukemia-LymphomaApoptosisCell Line, TumorChildDe Lange SyndromeG2 Phase Cell Cycle CheckpointsGerm CellsHumansMutationPhenotypeCell Cycle ProteinsDNA-Binding ProteinsRAD21 protein, humanacute lymphoblastic leukemiacohesin complexgermline cancer predispositionRAD21trio sequencing
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.