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Diamond Blackfan an...
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Wilkes, MCStanford University
(author)
Diamond Blackfan anemia is mediated by hyperactive Nemo-like kinase
- Article/chapterEnglish2020
Publisher, publication year, extent ...
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2020-07-03
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Springer Science and Business Media LLC,2020
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:144133480
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http://kipublications.ki.se/Default.aspx?queryparsed=id:144133480URI
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https://doi.org/10.1038/s41467-020-17100-zDOI
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https://lup.lub.lu.se/record/c864a862-cd2b-4154-9e9d-df87e61abacdURI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome associated with ribosomal gene mutations that lead to ribosomal insufficiency. DBA is characterized by anemia, congenital anomalies, and cancer predisposition. Treatment for DBA is associated with significant morbidity. Here, we report the identification of Nemo-like kinase (NLK) as a potential target for DBA therapy. To identify new DBA targets, we screen for small molecules that increase erythroid expansion in mouse models of DBA. This screen identified a compound that inhibits NLK. Chemical and genetic inhibition of NLK increases erythroid expansion in mouse and human progenitors, including bone marrow cells from DBA patients. In DBA models and patient samples, aberrant NLK activation is initiated at the Megakaryocyte/Erythroid Progenitor (MEP) stage of differentiation and is not observed in non-erythroid hematopoietic lineages or healthy erythroblasts. We propose that NLK mediates aberrant erythropoiesis in DBA and is a potential target for therapy.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Siva, K.Lund University,Lunds universitet,Stamceller till röda blodkroppar,Forskargrupper vid Lunds universitet,Stem Cells to Red Blood Cells,Lund University Research Groups(Swepub:lu)med-kvs
(author)
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Chen, J.Lund University,Lunds universitet,Stamceller till röda blodkroppar,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Stem Cells to Red Blood Cells,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)med-juc
(author)
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Varetti, GBarcelona Institute of Science and Technology,Catalan Institution for Research and Advanced Studies,Institute for Research in Biomedicine (IRB Barcelona)
(author)
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Youn, MYStanford University
(author)
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Chae, HStanford University
(author)
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Ek, F.Lund University,Lunds universitet,NanoLund: Centre for Nanoscience,Annan verksamhet, LTH,Lunds Tekniska Högskola,Kemisk biologi med inriktning mot läkemedelsutveckling,Forskargrupper vid Lunds universitet,Other operations, LTH,Faculty of Engineering, LTH,Chemical Biology and Therapeutics,Lund University Research Groups(Swepub:lu)orgk1-fe
(author)
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Olsson, R.Lund University,Lunds universitet,NanoLund: Centre for Nanoscience,Annan verksamhet, LTH,Lunds Tekniska Högskola,Kemisk biologi med inriktning mot läkemedelsutveckling,Forskargrupper vid Lunds universitet,Other operations, LTH,Faculty of Engineering, LTH,Chemical Biology and Therapeutics,Lund University Research Groups(Swepub:lu)med-reo
(author)
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Lundback, TKarolinska Institute,Karolinska Institutet
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Dever, DPStanford University
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Nishimura, T.Stanford University(Swepub:lu)med-tnu
(author)
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Narla, AStanford University
(author)
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Glader, BStanford University
(author)
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Nakauchi, HUniversity of Tokyo,Stanford University
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Porteus, MHStanford University
(author)
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Repellin, CESRI International
(author)
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Gazda, HTBroad Institute,Harvard University
(author)
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Lin, SUniversity of California, Los Angeles
(author)
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Serrano, MBarcelona Institute of Science and Technology,Catalan Institution for Research and Advanced Studies,Institute for Research in Biomedicine (IRB Barcelona)
(author)
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Flygare, J.Lund University,Lunds universitet,Stamceller till röda blodkroppar,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Stem Cells to Red Blood Cells,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)molm-jfl
(author)
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Sakamoto, KMStanford University
(author)
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Stanford UniversityStamceller till röda blodkroppar
(creator_code:org_t)
Related titles
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In:Nature communications: Springer Science and Business Media LLC11:1, s. 3344-2041-1723
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- By the author/editor
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Wilkes, MC
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Siva, K.
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Chen, J.
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Varetti, G
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Youn, MY
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Chae, H
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show more...
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Ek, F.
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Olsson, R.
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Lundback, T
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Dever, DP
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Nishimura, T.
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Narla, A
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Glader, B
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Nakauchi, H
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Porteus, MH
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Repellin, CE
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Gazda, HT
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Lin, S
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Serrano, M
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Flygare, J.
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Sakamoto, KM
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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Nature communica ...
- By the university
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Karolinska Institutet
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Lund University