365 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]