Search details
1.
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet
; 106(6): 893-904, 2020 06 04.
Article
in English
| MEDLINE | ID: mdl-32386558
2.
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.
Hum Mol Genet
; 27(1): 1-13, 2018 01 01.
Article
in English
| MEDLINE | ID: mdl-29040558
3.
Bioactive Compounds from Theobroma cacao: Effect of Isolation and Safety Evaluation.
Plant Foods Hum Nutr
; 74(1): 40-46, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-30324543
4.
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.
Hum Mol Genet
; 25(14): 2997-3010, 2016 07 15.
Article
in English
| MEDLINE | ID: mdl-27260401
5.
Achondroplasia: Development, pathogenesis, and therapy.
Dev Dyn
; 246(4): 291-309, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27987249
6.
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.
PLoS Genet
; 10(5): e1004311, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24786642
7.
FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
Hum Mol Genet
; 23(11): 2914-25, 2014 Jun 01.
Article
in English
| MEDLINE | ID: mdl-24419316
8.
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
Am J Hum Genet
; 91(6): 1108-14, 2012 Dec 07.
Article
in English
| MEDLINE | ID: mdl-23200862
9.
Molecular modeling study of the induced-fit effect on kinase inhibition: the case of fibroblast growth factor receptor 3 (FGFR3).
J Comput Aided Mol Des
; 29(7): 619-41, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25808135
10.
An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.
Hum Mol Genet
; 21(11): 2503-13, 2012 Jun 01.
Article
in English
| MEDLINE | ID: mdl-22367969
11.
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model.
Hum Mol Genet
; 21(4): 841-51, 2012 Feb 15.
Article
in English
| MEDLINE | ID: mdl-22072392
12.
Low-Dose Infigratinib Increases Bone Growth And Corrects Growth Plate Abnormalities In An Achondroplasia Mouse Model.
J Bone Miner Res
; 2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38590263
13.
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Am J Hum Genet
; 87(2): 189-98, 2010 Aug 13.
Article
in English
| MEDLINE | ID: mdl-20673863
14.
Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice.
JCI Insight
; 8(12)2023 06 22.
Article
in English
| MEDLINE | ID: mdl-37345656
15.
Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.
Orphanet J Rare Dis
; 18(1): 88, 2023 04 18.
Article
in English
| MEDLINE | ID: mdl-37072824
16.
Embryonic cranial cartilage defects in the Fgfr3Y367C /+ mouse model of achondroplasia.
Anat Rec (Hoboken)
; 2023 Sep 25.
Article
in English
| MEDLINE | ID: mdl-37747411
17.
Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
Am J Med Genet A
; 158A(11): 2797-806, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22987770
18.
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Bone Rep
; 16: 101524, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35372644
19.
FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.
J Exp Med
; 219(4)2022 04 04.
Article
in English
| MEDLINE | ID: mdl-35254402
20.
Theobroma cacao improves bone growth by modulating defective ciliogenesis in a mouse model of achondroplasia.
Bone Res
; 10(1): 8, 2022 Jan 25.
Article
in English
| MEDLINE | ID: mdl-35078974