| |  Online-Ressource |
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| Verfasst von: | Schedel, Anne [VerfasserIn]  |
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| | Friedrich, Ulrike Anne [VerfasserIn] |
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| | Morcos, Mina N. F. [VerfasserIn] |
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| | Wagener, Rabea [VerfasserIn] |
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| | Mehtonen, Juha [VerfasserIn] |
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| | Watrin, Titus [VerfasserIn] |
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| | Saitta, Claudia [VerfasserIn] |
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| | Brozou, Triantafyllia [VerfasserIn] |
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| | Michler, Pia [VerfasserIn] |
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| | Walter, Carolin [VerfasserIn] |
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| | Försti, Asta [VerfasserIn] |
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| | Baksi, Arka [VerfasserIn] |
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| | Menzel, Maria [VerfasserIn] |
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| | Horak, Peter [VerfasserIn] |
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| | Paramasivam, Nagarajan [VerfasserIn] |
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| | Fazio, Grazia [VerfasserIn] |
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| | Autry, Robert J. [VerfasserIn] |
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| | Fröhling, Stefan [VerfasserIn] |
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| | Suttorp, Meinolf [VerfasserIn] |
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| | Gertzen, Christoph [VerfasserIn] |
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| | Gohlke, Holger [VerfasserIn] |
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| | Bhatia, Sanil [VerfasserIn] |
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| | Wadt, Karin [VerfasserIn] |
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| | Schmiegelow, Kjeld [VerfasserIn] |
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| | Dugas, Martin [VerfasserIn] |
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| | Richter, Daniela [VerfasserIn] |
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| | Glimm, Hanno [VerfasserIn] |
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| | Heinäniemi, Merja [VerfasserIn] |
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| | Jessberger, Rolf [VerfasserIn] |
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| | Cazzaniga, Gianni [VerfasserIn] |
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| | Borkhardt, Arndt [VerfasserIn] |
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| | Hauer, Julia Christina [VerfasserIn] |
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| | Auer, Franziska [VerfasserIn] |
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| Titel: | Recurrent germline variant in RAD21 predisposes children to lymphoblastic leukemia or lymphoma |
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| Verf.angabe: | Anne Schedel, Ulrike Anne Friedrich, Mina N. F. Morcos, Rabea Wagener, Juha Mehtonen, Titus Watrin, Claudia Saitta, Triantafyllia Brozou, Pia Michler, Carolin Walter, Asta Försti, Arka Baksi, Maria Menzel, Peter Horak, Nagarajan Paramasivam, Grazia Fazio, Robert J. Autry, Stefan Fröhling, Meinolf Suttorp, Christoph Gertzen, Holger Gohlke, Sanil Bhatia, Karin Wadt, Kjeld Schmiegelow, Martin Dugas, Daniela Richter, Hanno Glimm, Merja Heinäniemi, Rolf Jessberger, Gianni Cazzaniga, Arndt Borkhardt, Julia Hauer and Franziska Auer |
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| Jahr: | 2022 |
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| Umfang: | 15 S. |
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| Fussnoten: | This article belongs to the Special Issue Genetics and Epigenetics in Complex Diseases ; Gesehen am 27.06.2022 |
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| Titel Quelle: | Enthalten in: International journal of molecular sciences |
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| Ort Quelle: | Basel : Molecular Diversity Preservation International, 2000 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 23(2022), 9, Artikel-ID 174, Seite 1-15 |
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| ISSN Quelle: | 1422-0067 |
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| | 1661-6596 |
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| 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 RAD21 germline aberration at amino acid position 298 (p.P298S/A) identified in three children with lymphoblastic leukemia or lymphoma in a total dataset of 482 pediatric cancer patients. While RAD21 p.P298S/A did not disrupt the formation of the cohesin complex, it altered RAD21 gene expression, DNA damage response and primary patient fibroblasts showed increased G2/M arrest after irradiation and Mitomycin-C treatment. Subsequent single-cell RNA-sequencing analysis of healthy human bone marrow confirmed the upregulation of distinct cohesin gene patterns during hematopoiesis, highlighting the importance of RAD21 expression within proliferating B- and T-cells. Our clinical and functional data therefore suggest that RAD21 germline variants can predispose to childhood lymphoblastic leukemia or lymphoma without displaying a CdLS phenotype. |
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| DOI: | doi:10.3390/ijms23095174 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.3390/ijms23095174 |
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| | Volltext: https://www.mdpi.com/1422-0067/23/9/5174 |
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| | DOI: https://doi.org/10.3390/ijms23095174 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | <i>RAD21</i> |
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| | acute lymphoblastic leukemia |
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| | cohesin complex |
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| | germline cancer predisposition |
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| | trio sequencing |
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| K10plus-PPN: | 1807907163 |
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| Verknüpfungen: | → Zeitschrift |
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Recurrent germline variant in RAD21 predisposes children to lymphoblastic leukemia or lymphoma / Schedel, Anne [VerfasserIn]; 2022 (Online-Ressource)
