- The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptorJacky Bonaventure
Institut Curie, Universite Paris Sud, Orsay, and Department of Medical Genetics INSERM U393, Hopital Necker, Paris, France
FEBS J 274:3078-93. 2007....
- Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndromeElisabeth 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...
- [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...
- 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 mutationsSarah 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....
- Molecular and cellular bases of syndromic craniosynostosesJacky Bonaventure
INSERM U 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
Expert Rev Mol Med 5:1-17. 2003....
- Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disordersBas 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...
- Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 geneChristel Thauvin-Robinet
Am J Med Genet A 119:81-4. 2003