J. Bonaventure

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Molecular and cellular bases of syndromic craniosynostoses

J. Bonaventure, V. El Ghouzzi, Jacky Bonaventure, 2003, Expert Reviews in Molecular Medicine.

Bypassing melanocyte senescence by beta-catenin: a novel way to promote melanoma.

F. Luciani, L. Larue, J. Bonaventure, 2009, Pathologie-biologie.

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.

A. Munnich, S. Aresta, J. de Gunzburg, 2000, Human molecular genetics.

A Subpopulation of Smooth Muscle Cells, Derived from Melanocyte-Competent Precursors, Prevents Patent Ductus Arteriosus

M. Mark, L. Monassier, L. Larue, 2013, PloS one.

Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders

J. Thiery, F. Radvanyi, E. Zwarthoff, 2002, European Journal of Human Genetics.

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

P. Bénit, A. Munnich, J. Bonaventure, 1997, Nature Genetics.

EXT 1 Gene Mutation Induces Chondrocyte Cytoskeletal Abnormalities and Defective Collagen Expression in the Exostoses

A. Munnich, J. Bonaventure, R. Piazza, 2000, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Dymeclin de fi ciency causes postnatal microcephaly , hypomyelination and reticulum-to-Golgi traf fi cking defects in mice and humans

G. Ball, P. Gressens, F. Perez, 2015 .

Modulation of sulfated proteoglycan synthesis and collagen gene expression by chondrocytes grown in the presence of bFGF alone or combined with IGF1.

J. Bonaventure, V. Nataf, M. Dumontier, 1990, Reproduction, nutrition, development.

Tetra‐amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes

N. Philip, N. Lévy, J. Bonaventure, 2005, Clinical genetics.

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

A. Munnich, J. Bonaventure, J. Moreau, 2004, American journal of human genetics.

Mutations in the basic domain and the loop–helix II junction of TWIST abolish DNA binding in Saethre–Chotzen syndrome

A. Munnich, J. Bonaventure, V. El Ghouzzi, 2001, FEBS letters.

Monozygotic twins with Crouzon syndrome: concordance for craniosynostosis and discordance for thumb duplication.

J. Bonaventure, V. El Ghouzzi, D. Rénier, 2000, American journal of medical genetics.

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients.

A. Munnich, E. de Margerie, J. Bonaventure, 2006, Bone.

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.

J. Bonaventure, C. Benoist-Lasselin, L. Legeai-Mallet, 2002, The American journal of pathology.

IN VITRO PROTEOGLYCAN SULFATION DERIVED FROM SULFHYDRYL COMPOUNDS IN SULFATE TRANSPORTER CHONDRODYSPLASIAS

J. Bonaventure, R. Piazza, B. Steinmann, 2003, Pediatric pathology & molecular medicine.

Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.

J. Bonaventure, A. Superti-Furga, G. Cetta, 1997, European journal of biochemistry.

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

J. Roume, J. Bonaventure, A. Jobert, 1998, The Journal of clinical investigation.

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

J. Bonaventure, L. Gibbs, B. Zabel, 2006, European Journal of Human Genetics.

Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome

A. Munnich, J. Bonaventure, D. Rénier, 1999, European Journal of Human Genetics.

Effects of structural variations in synthetic glycolipids upon mitogenicity for spleen lymphocytes, adjuvancy for humoral immune response and on anti-tumour potential.

J. Bonaventure, C. Chopra, V. Nigam, 1982, British Journal of Cancer.

A. Munnich, J. Bonaventure, V. El Ghouzzi, 1999, Journal of medical genetics.

FGFR2 mutations in Pfeiffer syndrome

A. Munnich, J. Bonaventure, D. Rénier, 1995, Nature Genetics.

Effect of relaxin on the phenotype of collagens synthesized by cultured rabbit chondrocytes.

J. Bonaventure, G. Tregear, B. De La Tour, 1988, Biochimica et biophysica acta.

Fibroblast growth factor downregulates expression of a basic helix‐loop‐helix‐type transcription factor, scleraxis, in a chondrocyte‐like cell line, TC6

Y. Liu, N. Mataga, E. Olson, 1998, Journal of cellular biochemistry.

Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.

A. Munnich, J. Bonaventure, M. Vekemans, 1997, Human molecular genetics.

Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose.

J. Bonaventure, P. Freisinger, P. Maroteaux, 1994, American journal of medical genetics.

Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity.

J. Bonaventure, D. Ginisty, P. Maroteaux, 1992, American journal of medical genetics.

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1996, Hormone research.

Effect of transforming growth factor-β1 (TGF-β1) on matrix synthesis by monolayer cultures of rabbit articular chondrocytes during the dedifferentiation process☆

J. Bonaventure, D. Vivien, P. Galéra, 1992 .

Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beads.

J. Bonaventure, P. Freisinger, K. Ng, 1994, Experimental cell research.

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Arnold Munnich, Martine Le Merrer, A. Munnich, 1994, Nature.

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

Jean Weissenbach, Arnold Munnich, Martine Le Merrer, 1994, Nature Genetics.

Dominant mutations in familial lethal and severe osteogenesis imperfecta

J. Bonaventure, P. Maroteaux, L. Cohen‐Solal, 1991, Human Genetics.

Genotype-phenotype correlation in hereditary multiple exostoses

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 2001, Journal of medical genetics.

Organization and characterization of fibrillar collagens in fish scales in situ and in vitro

D. Hartmann, J. Bereiter-Hahn, J. Bonaventure, 1992 .

Structure-based mutational analysis of ICAT residues mediating negative regulation of β-catenin co-transcriptional activity

L. Mouawad, L. Papon, L. Larue, 2017, PloS one.

Undersulfation of Proteoglycans Synthesized by Chondrocytes from a Patient with Achondrogenesis Type 1B Homozygous for an L483P Substitution in the Diastrophic Dysplasia Sulfate Transporter*

J. Bonaventure, A. Superti-Furga, G. Cetta, 1996, The Journal of Biological Chemistry.

Cellular and molecular mechanisms controlling the migration of melanocytes and melanoma cells

Lionel Larue, L. Larue, J. Bonaventure, 2013, Pigment cell & melanoma research.

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships.

L. Ala‐Kokko, J. Bonaventure, D. Prockop, 1995, The Biochemical journal.

Clinical and Genetical Heterogeneity of Osteogenesis Imperfecta

J. Bonaventure, P. Maroteaux, L. Cohen‐Solal, 1988, Annals of the New York Academy of Sciences.

Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals

F. Mallein-Gerin, I. Treilleux, J. Bonaventure, 1994, The Histochemical Journal.

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

A. Munnich, J. Bonaventure, V. El Ghouzzi, 1996, Human molecular genetics.

Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III).

J. Bonaventure, P. Maroteaux, C. Lasselin, 1986, Biochimica et biophysica acta.

Regulation of Melanoma Progression through the TCF4/miR-125b/NEDD9 Cascade.

J. Marine, F. Rambow, Gwendoline Gros, 2016, The Journal of investigative dermatology.

β-catenin inhibitor ICAT modulates the invasive motility of melanoma cells.

L. Papon, B. Job, F. Rambow, 2014, Cancer research.

Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

J. Bonaventure, P. Maroteaux, C. Lasselin, 1992, Journal of medical genetics.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

J. Bonaventure, D. Rénier, J. Martinovic, 2006, European Journal of Human Genetics.

Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation

L. Pasquier, M. Gonzalès, J. Bonaventure, 2005, Clinical genetics.

Activation of NF-κB by Akt upregulates Snail expression and induces epithelium mesenchyme transition

L. Nelles, L. Larue, J. Bonaventure, 2007, Oncogene.

Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.

A. Munnich, J. Bonaventure, C. Benoist-Lasselin, 2004, Bone.

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia.

B. Sykes, R. Boot-Handford, J. Bonaventure, 1996, Journal of medical genetics.

Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1996, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1996, American journal of medical genetics.

Modulation of the immunosuppressive effects of splenic macrophages in Fischer rats bearing adenocarcinoma 13762

J. Bonaventure, V. Nigam, C. Brailovsky, 2004, Cancer Immunology, Immunotherapy.

Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia*

A. Munnich, J. Bonaventure, C. Benoist-Lasselin, 1998, The Journal of Biological Chemistry.

Clinical and genetic heterogeneity of hypochondroplasia.

J. Weissenbach, A. Munnich, J. Bonaventure, 1996, Journal of medical genetics.

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

J. Bonaventure, L. Gibbs, B. Zabel, 2006, European Journal of Human Genetics.

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.

J. Bonaventure, D. Rénier, M. le Merrer, 2000, Journal of neurosurgery.

Clinical variability in patients with Apert's syndrome.

M. Gonzalès, J. Bonaventure, V. El Ghouzzi, 1999, Journal of neurosurgery.

FGFR3 (fibroblast growth factor receptor 3)

J. Bonaventure, 2010 .

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

A. Munnich, I. Kaitila, B. Sykes, 1998, American journal of human genetics.

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2

A. Munnich, A. Mégarbané, D. Bacq, 2002, Human Genetics.

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

A. Munnich, M. Sanak, J. Bonaventure, 1995, Nature Genetics.

J. Bonaventure, P. Maroteaux, M. le Lous, 1985, Connective tissue research.

Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

L. Faivre, J. Bonaventure, C. Thauvin-Robinet, 2003, American journal of medical genetics. Part A.

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification

A. Munnich, J. Bonaventure, M. Vekemans, 1998, Mechanisms of Development.

Glycosaminoglycans and Proteoglycans in Neoplastic Tissues and Their Role in Tumor Growth and Metastasis

J. Bonaventure, V. Nigam, C. Brailovsky, 1982 .

Morphological and biochemical studies of a mouse mutant (fro/fro) with bone fragility.

J. Guénet, J. Bonaventure, P. Maroteaux, 1991, Bone.

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

G. Ball, P. Gressens, F. Perez, 2015, Human molecular genetics.

Overlap between Baller-Gerold and Rothmund-Thomson syndrome.

A. Mégarbané, J. Loiselet, J. Bonaventure, 2000, Clinical dysmorphology.

Dyssegmental dysplasia with glaucoma.

J. Bonaventure, M. le Merrer, P. Maroteaux, 1996, American journal of medical genetics.

Effect of transforming growth factor-beta 1 (TGF-beta 1) on matrix synthesis by monolayer cultures of rabbit articular chondrocytes during the dedifferentiation process.

J. Bonaventure, D. Vivien, P. Galéra, 1992, Experimental cell research.

Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasias

J. Bonaventure, P. Maroteaux, F. Chaminade, 1995, Human Genetics.

Skeletal development in human

J. Bonaventure, 2011 .

In vitro spleen cell proliferation following in vivo treatment with a synthetic glycolipid or lipid A in three mouse strains.

J. Bonaventure, V. Nigam, C. Brailovsky, 1984, International journal of immunopharmacology.

A new lethal brittle bone syndrome with increased amount of type V collagen in a patient.

J. Bonaventure, P. Maroteaux, L. Zylberberg, 1989, American journal of medical genetics.

The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor

R. Baron, W. Horne, J. Bonaventure, 2007, The FEBS journal.

The tyrosinase promoter is active in a subset of vagal neural crest cells during early development in mice

L. Larue, J. Bonaventure, I. Puig, 2009, Pigment cell & melanoma research.

[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].

A. Munnich, J. Bonaventure, M. le Merrer, 1996, Annales d'endocrinologie.

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].

A. Munnich, J. Bonaventure, M. le Merrer, 1996, Annales d'Endocrinologie.

Common Mutations in the Fibroblast Growth Factor Receptor 3 (FGFR 3) Gene Account for Achondroplasia, Hypochondroplasia and Thanatophoric Dwarfism

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1997 .

Interleukin-1 alpha modulates collagen gene expression in cultured synovial cells.

J. Bonaventure, J. Saklatvala, R. Bhatnagar, 1988, The Biochemical journal.

A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta

J. Bonaventure, P. Maroteaux, C. Lasselin, 1992, Human Genetics.

Localization of gamma-glutamyl-phosphate residues to the alpha 2CB3-5 peptide of type I chicken bone collagen.

M. Glimcher, J. Bonaventure, P. Maroteaux, 1989, Connective tissue research.

Transforming growth factor‐β1 (TGF‐β1) up‐regulation of collagen type II in primary cultures of rabbit articular chondrocytes (RAC) involves increased mRNA levels without affecting mRNA stability and procollagen processing

J. Bonaventure, P. Galéra, J. Pujol, 1992, Journal of cellular physiology.

Transforming growth factor-beta 1 (TGF-beta 1) up-regulation of collagen type II in primary cultures of rabbit articular chondrocytes (RAC) involves increased mRNA levels without affecting mRNA stability and procollagen processing.

J. Bonaventure, P. Galéra, J. Pujol, 1992, Journal of cellular physiology.

Frequent FGFR3 mutations in papillary non-invasive bladder (pTa) tumors.

C. Abbou, D. Chopin, J. Thiery, 2001, The American journal of pathology.

Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.

I. Kaitila, M. Vikkula, B. Sokolov, 1995, Arthritis and rheumatism.

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

G. Mortier, L. Biesecker, D. Rimoin, 1998, American journal of human genetics.

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene

J. Bonaventure, C. Philippe, G. Plessis, 1992, Human Genetics.

Short Communication Frequent FGFR3 Mutations in Papillary Non-Invasive Bladder (pTa) Tumors

D. Chopin, J. Thiery, F. Radvanyi, 2001 .

[Migration of melanocytic lineage-derived cells].

L. Larue, J. Bonaventure, L. Larue, 2013, Medecine sciences : M/S.