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Loss of function mu...
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Giefing, MaciejPolish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland.;Christian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany.
(author)
Loss of function mutations of BCOR in classical Hodgkin lymphoma
- Article/chapterEnglish2022
Publisher, publication year, extent ...
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2021-12-27
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Informa UK Limited,2022
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-479422
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-479422URI
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https://doi.org/10.1080/10428194.2021.2015587DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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BCOR is a component of a variant Polycomb repressive complex 1 (PRC1.1). PRC1 and PRC2 complexes together constitute a major gene regulatory system critical for appropriate cellular differentiation. The gene is upregulated in germinal center (GC) B cells and mutated in a number of hematologic malignancies. We report BCOR inactivating alterations in 4/7 classic Hodgkin lymphoma (cHL) cell lines, subclonal somatic mutations in Hodgkin and Reed-Sternberg (HRS) cells of 4/10 cHL cases, and deletions in HRS cells of 7/17 primary cHL cases. In mice, conditional loss of Bcor driven by AID-Cre in GC B cells resulted in gene expression changes of 46 genes (>2-fold) including upregulated Lef1 that encodes a transcription factor responsible for establishing T-cell identity and Il9r (interleukin-9 receptor), an important member of the cytokine network in cHL. Our findings suggest a role for BCOR loss in cHL pathogenesis and GC-B cell homeostasis.
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Added entries (persons, corporate bodies, meetings, titles ...)
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Gearhart, Micah D.Univ Minnesota, Masonic Canc Ctr, Dept Genet Cell Biol & Dev, Minneapolis, MN USA.;Univ Minnesota, Dev Biol Ctr, Minneapolis, MN USA.
(author)
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Schneider, MarkusUniv Duisburg Essen, Med Fac, Inst Cell Biol Canc Res, Essen, Germany.;Deutsch Konsortium Translat Krebsforsch DKTK, Heidelberg, Germany.;Univ Childrens Hosp Essen, Dept Pediat Hematol & Oncol, Essen, Germany.
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Overbeck, BirteChristian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany.
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Klapper, WolframChristian Albrechts Univ Kiel, Dept Pathol, Haematopathol Sect, Kiel, Germany.;Christian Albrechts Univ Kiel, Lymph Node Registry, Kiel, Germany.
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Hartmann, SylviaGoethe Univ Frankfurt, Dr Senckenberg Inst Pathol, Med Sch, Reference & Consultant Ctr Lymph Node & Lymphoma, Frankfurt, Germany.
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Ustaszewski, AdamPolish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland.
(author)
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Weniger, Marc A.Univ Duisburg Essen, Med Fac, Inst Cell Biol Canc Res, Essen, Germany.;Deutsch Konsortium Translat Krebsforsch DKTK, Heidelberg, Germany.
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Wiehle, LauraUniv Ulm, Inst Human Genet, Ulm, Germany.;Univ Ulm, Med Ctr, Ulm, Germany.
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Hansmann, Martin-LeoGoethe Univ Frankfurt, Dr Senckenberg Inst Pathol, Med Sch, Reference & Consultant Ctr Lymph Node & Lymphoma, Frankfurt, Germany.
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Melnick, AriWeill Cornell Med, Dept Med, Div Hematol Oncol, New York, NY USA.
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Beguelin, WendyWeill Cornell Med, Dept Med, Div Hematol Oncol, New York, NY USA.
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Sundström, ChristerUppsala universitet,Klinisk och experimentell patologi(Swepub:uu)chrisund
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Küppers, RalfUniv Duisburg Essen, Med Fac, Inst Cell Biol Canc Res, Essen, Germany.;Deutsch Konsortium Translat Krebsforsch DKTK, Heidelberg, Germany.
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Bardwell, Vivian J.Univ Minnesota, Masonic Canc Ctr, Dept Genet Cell Biol & Dev, Minneapolis, MN USA.;Univ Minnesota, Dev Biol Ctr, Minneapolis, MN USA.
(author)
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Siebert, ReinerChristian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany.;Univ Ulm, Inst Human Genet, Ulm, Germany.;Univ Ulm, Med Ctr, Ulm, Germany.
(author)
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Polish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland.;Christian Albrechts Univ Kiel, Inst Human Genet, Kiel, Germany.;Univ Hosp Schleswig Holstein, Kiel, Germany.Univ Minnesota, Masonic Canc Ctr, Dept Genet Cell Biol & Dev, Minneapolis, MN USA.;Univ Minnesota, Dev Biol Ctr, Minneapolis, MN USA.
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In:Leukemia and Lymphoma: Informa UK Limited63:5, s. 1080-10901042-81941029-2403
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Giefing, Maciej
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Gearhart, Micah ...
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Schneider, Marku ...
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Overbeck, Birte
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Klapper, Wolfram
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Hartmann, Sylvia
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Ustaszewski, Ada ...
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Weniger, Marc A.
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Wiehle, Laura
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Hansmann, Martin ...
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Melnick, Ari
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Beguelin, Wendy
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Sundström, Chris ...
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Küppers, Ralf
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Bardwell, Vivian ...
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Siebert, Reiner
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