Jacky Bonaventure

Summary

Country: France

Publications

  1. ncbi The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
    Jacky Bonaventure
    Institut Curie, Universite Paris Sud, Orsay, and Department of Medical Genetics INSERM U393, Hopital Necker, Paris, France
    FEBS J 274:3078-93. 2007
  2. ncbi Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
    Solange Heuertz
    INSERM U393, Hopital Necker, Paris Cedex 15, France
    Eur J Hum Genet 14:1240-7. 2006
  3. ncbi Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
    Elisabeth Lajeunie
    1INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 14:289-98. 2006
  4. doi Cellular and molecular mechanisms controlling the migration of melanocytes and melanoma cells
    Jacky Bonaventure
    Developmental Genetics of Melanocytes, Institut Curie, Centre de Recherche, Orsay, France
    Pigment Cell Melanoma Res 26:316-25. 2013
  5. ncbi [Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]
    Jacky Bonaventure
    CNRS UMR 146, Institut Curie, Batiment 110, Centre Universitaire Paris Sud, 91405 Orsay, France
    Med Sci (Paris) 21:954-61. 2005
  6. doi [Migration of melanocytic lineage-derived cells]
    Mélanie J Domingues
    Institut Curie, CNRS UMR3347, INSERM U1021, Génétique du développement des mélanocytes, Centre de Recherche, Batiment 110, 91405 Orsay, France
    Med Sci (Paris) 29:287-92. 2013
  7. pmc A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus
    Ichiro Yajima
    Developmental Genetics of Melanocytes, Institut Curie, Orsay, France
    PLoS ONE 8:e53183. 2013
  8. ncbi Molecular and cellular bases of syndromic craniosynostoses
    Jacky Bonaventure
    INSERM U 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Expert Rev Mol Med 5:1-17. 2003
  9. pmc Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations
    Sarah Cormier
    Institut National de la Santé et de la Recherche Médicale U426, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France
    Am J Pathol 161:1325-35. 2002
  10. ncbi Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
    Christel Thauvin-Robinet
    Am J Med Genet A 119:81-4. 2003

Collaborators

  • Lionel Larue
  • Linda Gibbs
  • Hiroaki Yamamoto
  • Roland Baron
  • Valerie Cormier-Daire
  • Veronique Delmas
  • Heather C Etchevers
  • L Faivre
  • Friedrich Beermann
  • Solange Heuertz
  • Mélanie J Domingues
  • Ichiro Yajima
  • Martine Le Merrer
  • Elisabeth Lajeunie
  • Laurence Legeai-Mallet
  • Christel Thauvin-Robinet
  • Bas W G van Rhijn
  • Sarah Cormier
  • Isabel Puig
  • Mark M Taketo
  • Laurent Monassier
  • Mayuko Kumasaka
  • Manuel Mark
  • Elodie Belloir
  • Sophie Colombo
  • Philippe Choquet
  • Delphine Champeval
  • Jelena Martinovic
  • Michael Wright
  • Vincent El Ghouzzi
  • Bernhard Zabel
  • Dominique Renier
  • Patricia Lewin
  • Ana Belinda Campos-Xavier
  • Jean Vital De Monléon
  • Catherine François
  • Jean François Couailler
  • Frederic Huet
  • Anne Lise Delezoide
  • Theodorus H van der Kwast
  • Annie de Vries
  • Ellen C Zwarthoff
  • Francois Radvanyi
  • Caroline Silve
  • Catherine Benoist-Lasselin
  • Jean Paul Thiery
  • Irene Lurkin
  • Angela A G van Tilborg

Detail Information

Publications11

  1. ncbi The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
    Jacky Bonaventure
    Institut Curie, Universite Paris Sud, Orsay, and Department of Medical Genetics INSERM U393, Hopital Necker, Paris, France
    FEBS J 274:3078-93. 2007
    ....
  2. ncbi Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
    Solange Heuertz
    INSERM U393, Hopital Necker, Paris Cedex 15, France
    Eur J Hum Genet 14:1240-7. 2006
    ....
  3. ncbi Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
    Elisabeth Lajeunie
    1INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Eur J Hum Genet 14:289-98. 2006
    ..A limited number of recurrent amino-acid changes (W290C, Y340C, C342R and S351C) is commonly associated with the most severe Pfeiffer phenotypes of poor prognosis...
  4. doi Cellular and molecular mechanisms controlling the migration of melanocytes and melanoma cells
    Jacky Bonaventure
    Developmental Genetics of Melanocytes, Institut Curie, Centre de Recherche, Orsay, France
    Pigment Cell Melanoma Res 26:316-25. 2013
    ....
  5. ncbi [Hereditary skeletal dysplasias and FGFR3 and PTHR1 signaling pathways]
    Jacky Bonaventure
    CNRS UMR 146, Institut Curie, Batiment 110, Centre Universitaire Paris Sud, 91405 Orsay, France
    Med Sci (Paris) 21:954-61. 2005
    ..Data from human diseases and relevant animal models provide new clues for understanding how signaling molecules and their interaction with key transcription factors control and regulate the development and growth of long bones...
  6. doi [Migration of melanocytic lineage-derived cells]
    Mélanie J Domingues
    Institut Curie, CNRS UMR3347, INSERM U1021, Génétique du développement des mélanocytes, Centre de Recherche, Batiment 110, 91405 Orsay, France
    Med Sci (Paris) 29:287-92. 2013
    ..Here, we summarize how these data allow a better understanding of the complex mechanisms controlling migration of normal and pathological cells of the melanocytic lineage...
  7. pmc A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus
    Ichiro Yajima
    Developmental Genetics of Melanocytes, Institut Curie, Orsay, France
    PLoS ONE 8:e53183. 2013
    ....
  8. ncbi Molecular and cellular bases of syndromic craniosynostoses
    Jacky Bonaventure
    INSERM U 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Expert Rev Mol Med 5:1-17. 2003
    ....
  9. pmc Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations
    Sarah Cormier
    Institut National de la Santé et de la Recherche Médicale U426, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Paris, France
    Am J Pathol 161:1325-35. 2002
    ....
  10. ncbi Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
    Christel Thauvin-Robinet
    Am J Med Genet A 119:81-4. 2003
  11. ncbi Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
    Bas W G van Rhijn
    Department of Pathology, Josephine Nefkens Institute, Erasmus University, 3000 DR Rotterdam, The Netherlands
    Eur J Hum Genet 10:819-24. 2002
    ..From a clinical perspective, the patients with FGFR3-related, non-lethal skeletal disorders might be at a higher risk for development of bladder tumours than the general population...