Theobroma cacao improves bone growth by modulating defective ciliogenesis in a mouse model of achondroplasia

Autor: Ludovic Martin, Nabil Kaci, Catherine Benoist-Lasselin, Marine Mondoloni, Suzanne Decaudaveine, Valentin Estibals, Maxence Cornille, Léa Loisay, Justine Flipo, Benoît Demuynck, Maria de la Luz Cádiz-Gurrea, Florent Barbault, Salvador Fernández-Arroyo, Laurent Schibler, Antonio Segura-Carretero, Emilie Dambroise, Laurence Legeai-Mallet

Publikováno v: Bone Research, Vol 10, Iss 1, Pp 1-13 (2022)

Abstract A gain-of-function mutation in the fibroblast growth factor receptor 3 gene (FGFR3) results in achondroplasia (ACH), the most frequent form of dwarfism. Constitutive activation of FGFR3 impairs bone formation and elongation and many signal t

Externí odkaz: https://doaj.org/article/4b8e1f7b644c499bbe172db7db4a37b3

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia

Autor: Meriem Garfa-Traore, Emilie Dambroise, Ludovic Martin, Nabil Kaci, Valentin Estibals, Laurence Legeai-Mallet, Nicolas Goudin, Catherine Benoist-Lasselin

Publikováno v: Human Molecular Genetics. 27:1-13

Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD). The constitutive activation of FGFR3 disrupts the normal process of skeletal growth. Bone-growth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2b4ce9e4b3825e0ce2ae110ae559e7f
https://doi.org/10.1093/hmg/ddx374

Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible

Autor: Federico Di Rocco, Michel Zerah, Michaela Kneissel, Davide Komla-Ebri, Valentin Estibals, Nabil Kaci, Martin Biosse Duplan, Yann Heuzé, Diana Grauss Porta, Laurence Legeai-Mallet, Emilie Gaudas, Catherine Benoist-Lasselin, Ina Kramer

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (14), pp.2997-3010
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (14), pp.2997-3010. ⟨10.1093/hmg/ddw153⟩
Human Molecular Genetics, Oxford University Press (OUP), 2016, pp.ddw153. ⟨10.1093/hmg/ddw153⟩

Activating FGFR3 mutations in human result in achondroplasia (ACH), the most frequent form of dwarfism, where cartilages are severely disturbed causing long bones, cranial base and vertebrae defects. Because mandibular development and growth rely on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c40201bbb2346dcc02d6988682a8d8fd
https://hal.archives-ouvertes.fr/hal-01842588

Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model

Autor: Martin Biosse-Duplan, Catherine Benoist-Lasselin, Patricia Busca, Ludovic Martin, Davide Komla-Ebri, Nabil Kaci, Ina Kramer, Federico Di Rocco, Emilie Dambroise, Diana Graus-Porta, Cindy Le Gall, Michaela Kneissel, Arnold Munnich, Laurence Legeai-Mallet, Florent Barbault

Publikováno v: The Journal of clinical investigation. 126(5)

Achondroplasia (ACH) is the most frequent form of dwarfism and is caused by gain-of-function mutations in the fibroblast growth factor receptor 3-encoding (FGFR3-encoding) gene. Although potential therapeutic strategies for ACH, which aim to reduce e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc557b29cfda5b041eb6c204cb3d6f4a
https://pubmed.ncbi.nlm.nih.gov/27064282

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

Autor: Laurence Legeai-Mallet, Jacky Bonaventure, Arnold Munnich, Catherine Benoist-Lasselin

Publikováno v: Bone. 34:26-36

Achondroplasia (ACH) and thanatophoric dysplasia (TD) are human skeletal disorders of increasing severity accounted for by mutations in the fibroblast growth factor receptor 3 (FGFR3). Attempts to elucidate the molecular signaling pathways leading to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4d4835d97cfbc8ceff1455277c5f98f
https://doi.org/10.1016/j.bone.2003.09.002