Experimental Hematology
Volume 37, Issue 1 , Pages 1-7 , January 2009

Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease?

  • Laura Bonsi

      Affiliations

    • Departments of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy
    • Drs. Bonsi and Marchionni contributed equally to this article.
    • ,
  • Cosetta Marchionni

      Affiliations

    • Departments of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy
    • Drs. Bonsi and Marchionni contributed equally to this article.
    • ,
  • Francesco Alviano

      Affiliations

    • Departments of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy
    • ,
  • Giacomo Lanzoni

      Affiliations

    • Departments of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy
    • ,
  • Michele Franchina

      Affiliations

    • Obstetrics and Gynecology, University of Bologna, Bologna, Italy
    • ,
  • Roberta Costa

      Affiliations

    • Departments of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy
    • ,
  • Alberto Grossi

      Affiliations

    • Departments of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy
    • ,
  • Gian Paolo Bagnara

      Affiliations

    • Departments of Histology, Embryology and Applied Biology, University of Bologna, Bologna, Italy
    • “Giorgio Prodi” Interdepartmental Center for Cancer Research, University of Bologna, Bologna, Italy
    • Corresponding Author InformationOffprint requests to: Gian Paolo Bagnara, M.D., Department of Histology, Embryology and Applied Biology, University of Bologna, Via Belmeloro, 840126 Bologna, Italy

Received 25 July 2008 ,Revised 3 September 2008 ,Accepted 4 September 2008.

  • Image Result

    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

    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.

  • Image Result
    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.

    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.

  • Image Result
    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;

    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.

PII: S0301-472X(08)00421-9

doi: 10.1016/j.exphem.2008.09.004

Experimental Hematology
Volume 37, Issue 1 , Pages 1-7 , January 2009

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