Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease?  Laura Bonsi, Cosetta Marchionni, Francesco Alviano, Giacomo Lanzoni, Michele Franchina, Roberta Costa, Alberto Grossi, Gian Paolo Bagnara  Experimental Hematology  Volume 37, Issue 1, Pages 1-7 (January 2009) DOI: 10.1016/j.exphem.2008.09.004 Copyright © 2009 ISEH - Society for Hematology and Stem Cells Terms and Conditions

Figure 1 Sequencing electropherograms (ABI–PRISM 377 instrument) of transforming growth factor β2 (TGF–β2) gene. Two mutations were identified: an A−C substitution at position 2114 (A) and an A−G substitution at position 2339 (B) as compared to the sequence M87843 Genebank accession number. Experimental Hematology 2009 37, 1-7DOI: (10.1016/j.exphem.2008.09.004) Copyright © 2009 ISEH - Society for Hematology and Stem Cells Terms and Conditions

Figure 2 Histograms obtained by luciferase assay (Victor2 Multilabel Counter; Perkin Elmer). No differences in gene expression were detected between mutated and wild–type fragments. CPS = counts per second. Experimental Hematology 2009 37, 1-7DOI: (10.1016/j.exphem.2008.09.004) Copyright © 2009 ISEH - Society for Hematology and Stem Cells Terms and Conditions

Figure 3 Flow cytometric characterization of mesenchymal stromal cells (MSCs) from one case of thrombocytopenia–absent radius (TAR) syndrome (A, B). (A) Negative reaction to SH2 antibody binding CD105 antigen; (B): positive reaction to SH3 antibody binding CD73 antigen. Cultured MSCs from TAR patient were tested for the ability to differentiate in vitro toward osteogenic lineage (C, D). Osteogenesis was indicated by the increase in alkaline phosphatase (C) and calcium deposition (D) in histochemistry staining. Experimental Hematology 2009 37, 1-7DOI: (10.1016/j.exphem.2008.09.004) Copyright © 2009 ISEH - Society for Hematology and Stem Cells Terms and Conditions