Zobrazeno 1 - 10
of 119
pro vyhledávání: '"LAURENCE LEGEAI"'
Autor:
Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlation with obstructive
Externí odkaz:
https://doaj.org/article/f9fb840ffea7428da972b71c8a8dc77c
Autor:
Léa Loisay, Davide Komla-Ebri, Anne Morice, Yann Heuzé, Camille Viaut, Amélie de La Seiglière, Nabil Kaci, Danny Chan, Audrey Lamouroux, Geneviève Baujat, J.H. Duncan Bassett, Graham R. Williams, Laurence Legeai-Mallet
Publikováno v:
JCI Insight, Vol 8, Iss 12 (2023)
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from a heterozygous p.Asn540Lys gain-of-function mutation. Here, we report the generation and
Externí odkaz:
https://doaj.org/article/70bb70a6bcf54661b19f721ef10cd021
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
Autor:
Caroline Ea, Quentin Hennocq, Arnaud Picard, Michel Polak, Corinne Collet, Laurence Legeai-Mallet, Éric Arnaud, Giovanna Paternoster, Roman Hossein Khonsari
Publikováno v:
Bone Reports, Vol 16, Iss , Pp 101524- (2022)
Objective: Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating Fibroblast Growth Factor Receptor
Externí odkaz:
https://doaj.org/article/b0b16ff7e7cf4580a98f2a4720174a71
Autor:
Leia C. Shuhaibar, Nabil Kaci, Jeremy R. Egbert, Thibault Horville, Léa Loisay, Giulia Vigone, Tracy F. Uliasz, Emilie Dambroise, Mark R. Swingle, Richard E. Honkanen, Martin Biosse Duplan, Laurinda A. Jaffe, Laurence Legeai-Mallet
Publikováno v:
JCI Insight, Vol 6, Iss 9 (2021)
Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations in the natriuretic peptide receptor 2 (NPR2) guanylyl cyclase both result in decreased production of cyclic GMP in chondrocytes and severe short stature, c
Externí odkaz:
https://doaj.org/article/22ff075713fa457fb86092d5d806ad8f
Autor:
Brandon M. Wagner, Jerid W. Robinson, Yun-Wen Lin, Yi-Ching Lee, Nabil Kaci, Laurence Legeai-Mallet, Lincoln R. Potter
Publikováno v:
JCI Insight, Vol 6, Iss 9 (2021)
Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) or inactivating mutations in guanylyl cyclase–B (GC-B), also known as NPR-B or Npr2, cause short-limbed dwarfism. FGFR3 activation causes dephosphorylation and inactivation of
Externí odkaz:
https://doaj.org/article/8907f504603840699e6ce60ca8c92b1e
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100769- (2021)
Externí odkaz:
https://doaj.org/article/6269207fa9c84c44929c25e70ba8eb21
Autor:
Léa Loisay, Davide Komla Ebri, Nabil Kaci, J.H. Duncan Bassett, Graham R. Williams, Laurence Legeai Mallet
Publikováno v:
Bone Reports, Vol 13, Iss , Pp 100691- (2020)
Externí odkaz:
https://doaj.org/article/fe3be038622c446a87613daecb321735
Autor:
Salvador Fernández-Arroyo, Fernando Huete-Toral, María Jesús Pérez de Lara, María de la Luz Cádiz-Gurrea, Laurence Legeai-Mallet, Vicente Micol, Antonio Segura-Carretero, Jorge Joven, Jesús Pintor
Publikováno v:
Food & Nutrition Research, Vol 59, Iss 0, Pp 1-10 (2015)
Background: Imbalances in the functional binding of fibroblast growth factors (FGFs) to their receptors (FGFRs) have consequences for cell proliferation and differentiation that in chondrocytes may lead to degraded cartilage. The toxic, proinflammato
Externí odkaz:
https://doaj.org/article/dcda9fb0304f47188f9b22e395a13723
Autor:
Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004311 (2014)
Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex process. Here, we report a homozygous mutation in the mit
Externí odkaz:
https://doaj.org/article/1e1164b459de47aea3caa8feba51e9b7