S
Stefan Karlsson
Researcher at Lund University
Publications - 303
Citations - 20537
Stefan Karlsson is an academic researcher from Lund University. The author has contributed to research in topics: Stem cell & Haematopoiesis. The author has an hindex of 70, co-authored 292 publications receiving 19180 citations. Previous affiliations of Stefan Karlsson include deCODE genetics & Netherlands Cancer Institute.
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A Novel Mouse Model for RPS19-Deficient Diamond-Blackfan Anemia Locates the Erythroid Defect at CFU-E/Proerythroblast Transition
Pekka Jaako,Johan Flygare,Karin Olsson,Axel Schambach,Christopher Baum,Jonas Larsson,David Bryder,Stefan Karlsson +7 more
TL;DR: Two novel mouse models for RPS19-deficient DBA that recapitulate the key erythroid phenotype seen in patients are generated and characterized, revealing a profound decrease in the number of proerythroblasts, while the levels of erythyroid and bipotential megakaryocytic-erythoid progenitors were normal or increased.
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Connecting ribosomes with bone marrow failure
TL;DR: The SBDS protein, defective in Schwachman-Diamond syndrome (SDS), associates with the 60S ribosomal subunit and the 28S Ribosomal RNA; mutations in SBDS most likely cause abnormal ribosome biogenesis.
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Bone Marrow Failure in RPS19-Deficient Mice Is Partly Caused by p53 Activation and Responds to L-Leucine Treatment
TL;DR: A key role of p53 activation in RPS19-deficient DBA is demonstrated and the preliminary data supports the role of L-leucine as a therapeutic agent in the treatment of DBA and suggests that p53-independent pathways may contribute towards phenotype upon severe RPS 19 deficiency.
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GLO polymorphism in Iceland.
TL;DR: The phenotypes of red cell glyoxalase I (GLO) were determined in two Icelandic population samples using starch-gel electrophoresis and high-voltage agarose-gel electrification and in a group of Icelandic insulin-dependent diabetics the gene frequencies were found to be very similar.
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Locus-Control-Region-Coupled Beta (S)(Antilles)- and Alpha(2)-Hemoglobin Genes Select for High Alpha(2)-Hemoglobin Expression in Adult Transgenic Mice
Frank E. Shafer,Boro Dropublić,Cindy Ely,Catherine A. Schaefer,Diana L. Freas,H. Ewa Witkowska,Alan N. Schechter,Constance Tom Noguchi,Michael J. Dewey,Stefan Karlsson +9 more
TL;DR: The results support a reciprocally competitive model for LCR-hemoglobin developmental switching and demonstrate that if the &mgr;LCR is coupled to the beta(S)(Antilles)- and alpha(2)-hemoglobin genes in tandem, only the distalalpha(2)hemoglobin gene is selected for expression to significant levels in adult mice.