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Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice.
Loisay, Léa; Komla-Ebri, Davide; Morice, Anne; Heuzé, Yann; Viaut, Camille; de La Seiglière, Amélie; Kaci, Nabil; Chan, Danny; Lamouroux, Audrey; Baujat, Geneviève; Bassett, J H Duncan; Williams, Graham R; Legeai-Mallet, Laurence.
Afiliación
  • Loisay L; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.
  • Komla-Ebri D; Molecular Endocrinology Laboratory, Department of Metabolism Digestion and Reproduction, Imperial College London, London, United Kingdom.
  • Morice A; UCB Pharma, Slough, United Kingdom.
  • Heuzé Y; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.
  • Viaut C; UMR5199 PACEA, CNRS, MC, Université de Bordeaux, Pessac, France.
  • de La Seiglière A; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.
  • Kaci N; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.
  • Chan D; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.
  • Lamouroux A; School of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China.
  • Baujat G; Department of Medical Genetics, CHU Arnaud De Villeneuve, Montpellier, France.
  • Bassett JHD; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Paris, France.
  • Williams GR; Department of Medical Genetics, French Reference Center for Skeletal Dysplasia, AP-HP, Necker Enfants Malades Hospital, Paris, France.
  • Legeai-Mallet L; Molecular Endocrinology Laboratory, Department of Metabolism Digestion and Reproduction, Imperial College London, London, United Kingdom.
JCI Insight ; 8(12)2023 06 22.
Article en En | MEDLINE | ID: mdl-37345656
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteoporosis / Enanismo / Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals Idioma: En Revista: JCI Insight Año: 2023 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteoporosis / Enanismo / Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals Idioma: En Revista: JCI Insight Año: 2023 Tipo del documento: Article País de afiliación: Francia