Petra Seemann

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. pmc 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
  2. pmc A GDF5 point mutation strikes twice--causing BDA1 and SYNS2
    Elisa Degenkolbe
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg School for Regenerative Therapies BSRT, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 9:e1003846. 2013
  3. pmc 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
  4. pmc 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
  5. pmc 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. pmc Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
    Katarina Dathe
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 84:483-92. 2009
  7. pmc Deletion and point mutations of PTHLH cause brachydactyly type E
    Eva Klopocki
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 86:434-9. 2010
  8. doi request reprint 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
  9. pmc Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
    Daniel M Ibrahim
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Genome Res 23:2091-102. 2013
  10. pmc 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

Collaborators

Detail Information

Publications13

  1. pmc 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...
  2. pmc A GDF5 point mutation strikes twice--causing BDA1 and SYNS2
    Elisa Degenkolbe
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, Berlin, Germany Berlin Brandenburg School for Regenerative Therapies BSRT, Charite Universitatsmedizin Berlin, Berlin, Germany
    PLoS Genet 9:e1003846. 2013
    ..These novel insights into the biology of GDF5 might also provide further clues on the pathophysiology of OA...
  3. pmc 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...
  4. pmc 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...
  5. pmc 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. pmc Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
    Katarina Dathe
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 84:483-92. 2009
    ..Our results reveal an additional functional mechanism for the pathogenesis of BDA2, which is duplication of a regulatory element that affects the expression of BMP2 in the developing limb...
  7. pmc Deletion and point mutations of PTHLH cause brachydactyly type E
    Eva Klopocki
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 86:434-9. 2010
    ..Thus, loss-of-function mutations in PTHLH cause BDE with short stature...
  8. doi request reprint 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
    ....
  9. pmc Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations
    Daniel M Ibrahim
    Berlin Brandenburg Center for Regenerative Therapies BCRT, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Genome Res 23:2091-102. 2013
    ..The methodology described can be used to investigate a wide spectrum of TFs and mutations that have not previously been amenable to ChIP-seq experiments. ..
  10. pmc 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...
  11. ncbi request reprint 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...
  12. pmc Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
    Luitgard M Graul-Neumann
    Ambulantes Gesundheitszentrum der Charité Universitätsmedizin Berlin, Berlin, Germany
    Eur J Hum Genet 22:726-33. 2014
    ..In contrast, dominant-negative BMPR1B mutations described previously are associated with autosomal-dominant brachydactyly-type A2. ..
  13. pmc 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...