BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

453 related articles for article (PubMed ID: 22045636)

  • 1. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
    Foldynova-Trantirkova S; Wilcox WR; Krejci P
    Hum Mutat; 2012 Jan; 33(1):29-41. PubMed ID: 22045636
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?
    Mustafa M; Moghrabi N; Bin-Abbas B
    Case Rep Endocrinol; 2014; 2014():840492. PubMed ID: 25505998
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Tyrosine kinase inhibitor NVP-BGJ398 functionally improves FGFR3-related dwarfism in mouse model.
    Komla-Ebri D; Dambroise E; Kramer I; Benoist-Lasselin C; Kaci N; Le Gall C; Martin L; Busca P; Barbault F; Graus-Porta D; Munnich A; Kneissel M; Di Rocco F; Biosse-Duplan M; Legeai-Mallet L
    J Clin Invest; 2016 May; 126(5):1871-84. PubMed ID: 27064282
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Proposal of patient-specific growth plate cartilage xenograft model for FGFR3 chondrodysplasia.
    Kimura T; Ozaki T; Fujita K; Yamashita A; Morioka M; Ozono K; Tsumaki N
    Osteoarthritis Cartilage; 2018 Nov; 26(11):1551-1561. PubMed ID: 30086379
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
    Couser NL; Pande CK; Turcott CM; Spector EB; Aylsworth AS; Powell CM
    Am J Med Genet A; 2017 Apr; 173(4):1097-1101. PubMed ID: 28181399
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
    Bengur FB; Ekmekci CG; Karaarslan E; Gunoz H; Alanay Y
    Eur J Med Genet; 2020 Feb; 63(2):103659. PubMed ID: 31048079
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias.
    Zheng C; Lin X; Xu X; Wang C; Zhou J; Gao B; Fan J; Lu W; Hu Y; Jie Q; Luo Z; Yang L
    EBioMedicine; 2019 Feb; 40():695-709. PubMed ID: 30685387
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
    Kunova Bosakova M; Varecha M; Hampl M; Duran I; Nita A; Buchtova M; Dosedelova H; Machat R; Xie Y; Ni Z; Martin JH; Chen L; Jansen G; Krakow D; Krejci P
    Hum Mol Genet; 2018 Mar; 27(6):1093-1105. PubMed ID: 29360984
    [TBL] [Abstract][Full Text] [Related]  

  • 11. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with
    Riba FRG; Gomes MES; Rabelo NC; Zuma MCC; Llerena JC; Mencalha AL; Gonzalez S
    Genet Test Mol Biomarkers; 2021 Oct; 25(10):674-682. PubMed ID: 34672771
    [No Abstract]   [Full Text] [Related]  

  • 12. Low bone mineral density in achondroplasia and hypochondroplasia.
    Matsushita M; Kitoh H; Mishima K; Kadono I; Sugiura H; Hasegawa S; Nishida Y; Ishiguro N
    Pediatr Int; 2016 Aug; 58(8):705-8. PubMed ID: 26716907
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation.
    Montone R; Romanelli MG; Baruzzi A; Ferrarini F; Liboi E; Lievens PM
    Int J Biochem Cell Biol; 2018 Feb; 95():17-26. PubMed ID: 29242050
    [TBL] [Abstract][Full Text] [Related]  

  • 14. FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
    Farmakis SG; Shinawi M; Miller-Thomas M; Radmanesh A; Herman TE
    Skeletal Radiol; 2015 Mar; 44(3):441-5. PubMed ID: 25119967
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.
    Kimura T; Bosakova M; Nonaka Y; Hruba E; Yasuda K; Futakawa S; Kubota T; Fafilek B; Gregor T; Abraham SP; Gomolkova R; Belaskova S; Pesl M; Csukasi F; Duran I; Fujiwara M; Kavkova M; Zikmund T; Kaiser J; Buchtova M; Krakow D; Nakamura Y; Ozono K; Krejci P
    Sci Transl Med; 2021 May; 13(592):. PubMed ID: 33952673
    [TBL] [Abstract][Full Text] [Related]  

  • 16. C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia.
    Legeai-Mallet L
    Endocr Dev; 2016; 30():98-105. PubMed ID: 26684019
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton.
    Biosse Duplan M; Dambroise E; Estibals V; Veziers J; Guicheux J; Legeai-Mallet L
    Dis Model Mech; 2021 Apr; 14(4):. PubMed ID: 33737326
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
    Xue Y; Sun A; Mekikian PB; Martin J; Rimoin DL; Lachman RS; Wilcox WR
    Mol Genet Genomic Med; 2014 Nov; 2(6):497-503. PubMed ID: 25614871
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.