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

Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet, +5

Nature

FibrosisGenetic DisorderGeneticsFibroblast Growth FactorCell Growth +3

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Vincent El Ghouzzi, M Le Merrer, Fabienne Perrin‐Schmitt, +7

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification +2

Reexpression of Cartilage-Specific Genes by Dedifferentiated Human Articular Chondrocytes Cultured in Alginate Beads

Jacky Bonaventure, N. Kadhom, L Cohen-Solal, +4

Experimental Cell Research

Regenerative MedicineTissue EngineeringMusculoskeletal ResearchBone Morphogenic ProteinAlginate Beads +11

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

C Billerey, Dominique Chopin, Marie‐Hélène Aubriot‐Lorton, +12

American Journal Of Pathology

UrologyPerineural InvasionGenitourinary CancerFrequent Fgfr3 MutationsSurgical Pathology +3

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

Sylvia Julien, Isabel Puig, Elena Caretti, +7

Oncogene

InflammationMesenchyme TransitionSignal TransductionMolecular PhysiologySignaling Pathway +8

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

Anne-Sixtine Jobert, Alain Couvineau, Jacky Bonaventure, +3

Journal of Clinical Investigation

SclerostinGeneticsParathyroid DiseaseMolecular BiologyParathyroid Gland +15

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

Douglas J. Wilkin, Jinny Szabo, Rhoda Cameron, +9

The American Journal of Human Genetics

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Michael D. Briggs, Geert Mortier, William G. Cole, +13

The American Journal of Human Genetics

Diverse MutationsMusculoskeletal ResearchGenetic DisorderGeneticsCartilage Degeneration +6

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Déborah Scheffer, Céline Huber, +17

The American Journal of Human Genetics

Genetic DisorderGeneticsPathologyDisease Gene IdentificationMedicine +2

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

Anne‐Lise Delezoide, Catherine Benoist-Lasselin, Laurence Legeai‐Mallet, +4

Mechanisms of Development

MechanobiologyDevelopmental BiologySpatio-temporal ExpressionBone Morphogenic ProteinFgfr 1 +7