1061 related articles for article (PubMed ID: 17950653)
1. Achondroplasia: from genotype to phenotype.
Richette P; Bardin T; Stheneur C
Joint Bone Spine; 2008 Mar; 75(2):125-30. PubMed ID: 17950653
[TBL] [Abstract][Full Text] [Related]
2. Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism.
Aviezer D; Golembo M; Yayon A
Curr Drug Targets; 2003 Jul; 4(5):353-65. PubMed ID: 12816345
[TBL] [Abstract][Full Text] [Related]
3. Achondroplasia: Current Options and Future Perspective.
Bouali H; Latrech H
Pediatr Endocrinol Rev; 2015 Jun; 12(4):388-95. PubMed ID: 26182483
[TBL] [Abstract][Full Text] [Related]
4. Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.
Pannier S; Mugniery E; Jonquoy A; Benoist-Lasselin C; Odent T; Jais JP; Munnich A; Legeai-Mallet L
Bone; 2010 Nov; 47(5):905-15. PubMed ID: 20673820
[TBL] [Abstract][Full Text] [Related]
5. Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype.
Murakami S; Balmes G; McKinney S; Zhang Z; Givol D; de Crombrugghe B
Genes Dev; 2004 Feb; 18(3):290-305. PubMed ID: 14871928
[TBL] [Abstract][Full Text] [Related]
6. Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM; Legeai-Mallet L
Dev Dyn; 2017 Apr; 246(4):291-309. PubMed ID: 27987249
[TBL] [Abstract][Full Text] [Related]
7. HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.
Ota S; Zhou ZQ; Romero MP; Yang G; Hurlin PJ
Hum Mol Genet; 2016 Oct; 25(19):4227-4243. PubMed ID: 27506979
[TBL] [Abstract][Full Text] [Related]
8. FGFR3 induces degradation of BMP type I receptor to regulate skeletal development.
Qi H; Jin M; Duan Y; Du X; Zhang Y; Ren F; Wang Y; Tian Q; Wang X; Wang Q; Zhu Y; Xie Y; Liu C; Cao X; Mishina Y; Chen D; Deng CX; Chang Z; Chen L
Biochim Biophys Acta; 2014 Jul; 1843(7):1237-47. PubMed ID: 24657641
[TBL] [Abstract][Full Text] [Related]
9. Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.
Nagata T; Matsushita M; Mishima K; Kamiya Y; Kato K; Toyama M; Ogi T; Ishiguro N; Kitoh H
Mol Genet Genomic Med; 2020 Mar; 8(3):e1148. PubMed ID: 31975530
[TBL] [Abstract][Full Text] [Related]
10. Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.
Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet JM; Maroteaux P; Le Merrer M; Munnich A
Horm Res; 1996; 45(1-2):108-10. PubMed ID: 8742128
[TBL] [Abstract][Full Text] [Related]
11. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.
Colvin JS; Bohne BA; Harding GW; McEwen DG; Ornitz DM
Nat Genet; 1996 Apr; 12(4):390-7. PubMed ID: 8630492
[TBL] [Abstract][Full Text] [Related]
12. Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.
Lee YC; Song IW; Pai YJ; Chen SD; Chen YT
Sci Rep; 2017 Feb; 7():43220. PubMed ID: 28230213
[TBL] [Abstract][Full Text] [Related]
13. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
Chen L; Adar R; Yang X; Monsonego EO; Li C; Hauschka PV; Yayon A; Deng CX
J Clin Invest; 1999 Dec; 104(11):1517-25. PubMed ID: 10587515
[TBL] [Abstract][Full Text] [Related]
14. Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.
Martin L; Kaci N; Estibals V; Goudin N; Garfa-Traore M; Benoist-Lasselin C; Dambroise E; Legeai-Mallet L
Hum Mol Genet; 2018 Jan; 27(1):1-13. PubMed ID: 29040558
[TBL] [Abstract][Full Text] [Related]
15. Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible.
Biosse Duplan M; Komla-Ebri D; Heuzé Y; Estibals V; Gaudas E; Kaci N; Benoist-Lasselin C; Zerah M; Kramer I; Kneissel M; Porta DG; Di Rocco F; Legeai-Mallet L
Hum Mol Genet; 2016 Jul; 25(14):2997-3010. PubMed ID: 27260401
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
Rousseau F; Bonaventure J; Legeai-Mallet L; Pelet A; Rozet JM; Maroteaux P; Le Merrer M; Munnich A
Nature; 1994 Sep; 371(6494):252-4. PubMed ID: 8078586
[TBL] [Abstract][Full Text] [Related]
17. Achondroplasia: A form of disproportionate dwarfism - A case report.
Swathi KV; Maragathavalli G
Indian J Dent Res; 2020; 31(5):794-798. PubMed ID: 33433522
[TBL] [Abstract][Full Text] [Related]
18. A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
Chen L; Li C; Qiao W; Xu X; Deng C
Hum Mol Genet; 2001 Mar; 10(5):457-65. PubMed ID: 11181569
[TBL] [Abstract][Full Text] [Related]
19. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.
Li C; Chen L; Iwata T; Kitagawa M; Fu XY; Deng CX
Hum Mol Genet; 1999 Jan; 8(1):35-44. PubMed ID: 9887329
[TBL] [Abstract][Full Text] [Related]
20. Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.
Iwata T; Li CL; Deng CX; Francomano CA
Hum Mol Genet; 2001 Jun; 10(12):1255-64. PubMed ID: 11406607
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
