PubMed

Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.

Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT.

J Clin Endocrinol Metab. 2009 Oct;94(10):3959-63. Epub 2009 Jul 21.PMID: 19622626 [PubMed - indexed for MEDLINE]Related articles

Enumeration of the colony-forming units-fibroblast from mouse and human bone marrow in normal and pathological conditions.

Kuznetsov SA, Mankani MH, Bianco P, Robey PG.

Stem Cell Res. 2009 Jan;2(1):83-94. Epub 2008 Aug 12.PMID: 19383412 [PubMed - indexed for MEDLINE]Related articles

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T.

Am J Med Genet A. 2008 Jan 15;146A(2):212-8.PMID: 18076102 [PubMed - indexed for MEDLINE]Related articles

Familial acanthosis nigricans due to K650T FGFR3 mutation.

Berk DR, Spector EB, Bayliss SJ.

Arch Dermatol. 2007 Sep;143(9):1153-6.PMID: 17875876 [PubMed - indexed for MEDLINE]Related articlesFree article

Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1.

Harada D, Yamanaka Y, Ueda K, Nishimura R, Morishima T, Seino Y, Tanaka H.

Bone. 2007 Aug;41(2):273-81. Epub 2007 Feb 9.PMID: 17561467 [PubMed - indexed for MEDLINE]Related articles

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

Pollock PM, Gartside MG, Dejeza LC, Powell MA, Mallon MA, Davies H, Mohammadi M, Futreal PA, Stratton MR, Trent JM, Goodfellow PJ.

Oncogene. 2007 Nov 1;26(50):7158-62. Epub 2007 May 21.PMID: 17525745 [PubMed - indexed for MEDLINE]Related articles

K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways.

Lievens PM, Roncador A, Liboi E.

J Mol Biol. 2006 Mar 31;357(3):783-92. Epub 2006 Feb 3.PMID: 16476447 [PubMed - indexed for MEDLINE]Related articles

The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling.

Lievens PM, Mutinelli C, Baynes D, Liboi E.

J Biol Chem. 2004 Oct 8;279(41):43254-60. Epub 2004 Aug 2.PMID: 15292251 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 12461689 [PubMed - indexed for MEDLINE]Related articlesFree article

Some chondrodysplasias with short limbs: molecular perspectives.

Cohen MM Jr.

Am J Med Genet. 2002 Oct 15;112(3):304-13. Review.PMID: 12357475 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2000 Oct 27.PMID: 11055896 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Review.PMID: 10696568 [PubMed - indexed for MEDLINE]Related articlesFree article

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 2;85(1):53-65.PMID: 10377013 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10053006 [PubMed - indexed for MEDLINE]Related articlesFree article