Petra Seemann

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. ncbi Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN
    Petra Seemann
    Research Group Development and Disease, Max Planck Institut fur Molekulare Genetik, Berlin, Germany
    PLoS Genet 5:e1000747. 2009
  2. ncbi Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells
    Sigmar Stricker
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Stem Cells Dev 21:623-33. 2012
  3. ncbi Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance
    Julia Zimmer
    Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 7:e35062. 2012
  4. ncbi A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
    Katarina Lehmann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Hum Genet 14:1248-54. 2006
  5. ncbi Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
    Eva Klopocki
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 88:70-5. 2011
  6. ncbi Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
    Petra Seemann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
    J Clin Invest 115:2373-81. 2005
  7. ncbi Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis
    Pia Kuss
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    J Clin Invest 119:146-56. 2009
  8. ncbi An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression
    Michael Niedermaier
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    J Clin Invest 115:900-9. 2005

Collaborators

Detail Information

Publications8

  1. ncbi Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN
    Petra Seemann
    Research Group Development and Disease, Max Planck Institut fur Molekulare Genetik, Berlin, Germany
    PLoS Genet 5:e1000747. 2009
    ..In conclusion, we show a new mechanism for abnormal joint development that interferes with a naturally occurring regulatory mechanism of BMP signaling...
  2. ncbi Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells
    Sigmar Stricker
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Stem Cells Dev 21:623-33. 2012
    ....
  3. ncbi Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance
    Julia Zimmer
    Berlin Brandenburg Center for Regenerative Therapies, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS ONE 7:e35062. 2012
    ..This study highlights that a given genetic variation should not be considered pathogenic unless supported by functional analyses...
  4. ncbi A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2
    Katarina Lehmann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Hum Genet 14:1248-54. 2006
    ..Disturbances of NOG-GDF5-BMPR1B signaling cascade can result in similar clinical manifestations depending on the quantitative effect and mode of action of the specific mutations within the same functional pathway...
  5. ncbi Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
    Eva Klopocki
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 88:70-5. 2011
    ..We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development...
  6. ncbi Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
    Petra Seemann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
    J Clin Invest 115:2373-81. 2005
    ..The presented experiments have identified some of the main determinants of GDF5 receptor-binding specificity in vivo and open new prospects for generating antagonists and superagonists of GDF5...
  7. ncbi Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis
    Pia Kuss
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    J Clin Invest 119:146-56. 2009
    ..Thus, we propose that mutated Hoxd13 causes polydactyly in SPD by inducing extraneous interdigital chondrogenesis, both directly and indirectly, via a reduction in RA levels...
  8. ncbi An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression
    Michael Niedermaier
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    J Clin Invest 115:900-9. 2005
    ..This results in shortening of the digits through an arrest of chondrocyte differentiation and the disruption of joint development...