These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

370 related articles for article (PubMed ID: 11055896)

  • 1. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
    Bellus GA; Spector EB; Speiser PW; Weaver CA; Garber AT; Bryke CR; Israel J; Rosengren SS; Webster MK; Donoghue DJ; Francomano CA
    Am J Hum Genet; 2000 Dec; 67(6):1411-21. PubMed ID: 11055896
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
    Tavormina PL; Bellus GA; Webster MK; Bamshad MJ; Fraley AE; McIntosh I; Szabo J; Jiang W; Jabs EW; Wilcox WR; Wasmuth JJ; Donoghue DJ; Thompson LM; Francomano CA
    Am J Hum Genet; 1999 Mar; 64(3):722-31. PubMed ID: 10053006
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
    Bellus GA; Bamshad MJ; Przylepa KA; Dorst J; Lee RR; Hurko O; Jabs EW; Curry CJ; Wilcox WR; Lachman RS; Rimoin DL; Francomano CA
    Am J Med Genet; 1999 Jul; 85(1):53-65. PubMed ID: 10377013
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
    Manickam K; Donoghue DJ; Meyer AN; Snyder PJ; Prior TW
    Am J Med Genet A; 2014 Jan; 164A(1):243-50. PubMed ID: 24352917
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.
    Naski MC; Wang Q; Xu J; Ornitz DM
    Nat Genet; 1996 Jun; 13(2):233-7. PubMed ID: 8640234
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.
    Grigelioniené G; Hagenäs L; Eklöf O; Neumeyer L; Haereid PE; Anvret M
    Hum Mutat; 1998; 11(4):333. PubMed ID: 10215410
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
    Kitoh H; Brodie SG; Kupke KG; Lachman RS; Wilcox WR
    Hum Mutat; 1998; 12(5):362-3. PubMed ID: 10671061
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    Hyland VJ; Robertson SP; Flanagan S; Savarirayan R; Roscioli T; Masel J; Hayes M; Glass IA
    Am J Med Genet A; 2003 Jul; 120A(2):157-68. PubMed ID: 12833394
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.
    van Rhijn BW; van Tilborg AA; Lurkin I; Bonaventure J; de Vries A; Thiery JP; van der Kwast TH; Zwarthoff EC; Radvanyi F
    Eur J Hum Genet; 2002 Dec; 10(12):819-24. PubMed ID: 12461689
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.
    Webster MK; D'Avis PY; Robertson SC; Donoghue DJ
    Mol Cell Biol; 1996 Aug; 16(8):4081-7. PubMed ID: 8754806
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
    Camera G; Baldi M; Strisciuglio G; Concolino D; Mastroiacovo P; Baffico M
    Am J Med Genet; 2001 Dec; 104(4):277-81. PubMed ID: 11754059
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
    Rousseau F; el Ghouzzi V; Delezoide AL; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J
    Hum Mol Genet; 1996 Apr; 5(4):509-12. PubMed ID: 8845844
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.
    Grigelioniené G; Eklöf O; Laurencikas E; Ollars B; Hertel NT; Dumanski JP; Hagenäs L
    Acta Paediatr; 2000 Sep; 89(9):1072-6. PubMed ID: 11071087
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4.
    Hart KC; Robertson SC; Kanemitsu MY; Meyer AN; Tynan JA; Donoghue DJ
    Oncogene; 2000 Jul; 19(29):3309-20. PubMed ID: 10918587
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
    Vajo Z; Francomano CA; Wilkin DJ
    Endocr Rev; 2000 Feb; 21(1):23-39. PubMed ID: 10696568
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.
    Adar R; Monsonego-Ornan E; David P; Yayon A
    J Bone Miner Res; 2002 May; 17(5):860-8. PubMed ID: 12009017
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
    Bellus GA; McIntosh I; Smith EA; Aylsworth AS; Kaitila I; Horton WA; Greenhaw GA; Hecht JT; Francomano CA
    Nat Genet; 1995 Jul; 10(3):357-9. PubMed ID: 7670477
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.