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Items: 1 to 20 of 116

1.

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

Martínez-Frías ML, de Frutos CA, Bermejo E, Nieto MA; ECEMC Working Group..

Am J Med Genet A. 2010 Jan;152A(1):245-55. doi: 10.1002/ajmg.a.33188. Review.

PMID:
20034074
2.
3.

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 1;10(12):1255-64.

PMID:
11406607
4.

[Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia].

Moskalewski S, Hyc A, Osiecka-Iwan A, Strzelczyk P.

Chir Narzadow Ruchu Ortop Pol. 2000;65(3):327-33. Review. Polish.

PMID:
11057021
5.
6.

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
7.

Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.

Su WC, Kitagawa M, Xue N, Xie B, Garofalo S, Cho J, Deng C, Horton WA, Fu XY.

Nature. 1997 Mar 20;386(6622):288-92.

PMID:
9069288
8.

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 15;104(4):277-81. Erratum in: Am J Med Genet 2002 Jun 15;110(2):193.

PMID:
11754059
9.

Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.

Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF.

Can Assoc Radiol J. 1999 Jun;50(3):185-97. Review.

PMID:
10405653
10.

Achondroplasia: Development, pathogenesis, and therapy.

Ornitz DM, Legeai-Mallet L.

Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Review.

PMID:
27987249
11.

Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data.

Tsai FJ, Tsai CH, Chang JG, Wu JY.

Am J Med Genet. 1999 Sep 17;86(3):300-1. No abstract available.

PMID:
10482885
12.

Fibroblast growth factor receptor 3 and the human chondrodysplasias.

Horton WA.

Curr Opin Pediatr. 1997 Aug;9(4):437-42. Review.

PMID:
9300204
13.

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. doi: 10.1007/s00256-014-1983-6. Epub 2014 Aug 15.

PMID:
25119967
14.

Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.

Nowroozi N, Raffioni S, Wang T, Apostol BL, Bradshaw RA, Thompson LM.

Hum Mol Genet. 2005 Jun 1;14(11):1529-38. Epub 2005 Apr 20.

PMID:
15843401
15.

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. doi: 10.1002/ajmg.a.38141. Epub 2017 Feb 9.

PMID:
28181399
16.

[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].

van Ravenswaaij-Arts CM, Losekoot M.

Ned Tijdschr Geneeskd. 2001 Jun 2;145(22):1056-9. Review. Dutch.

PMID:
11414167
17.

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.

18.

Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia.

Matsushita M, Kitoh H, Ohkawara B, Mishima K, Kaneko H, Ito M, Masuda A, Ishiguro N, Ohno K.

PLoS One. 2013 Dec 4;8(12):e81569. doi: 10.1371/journal.pone.0081569. eCollection 2013.

19.

Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.

Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG.

Clin Genet. 2009 Feb;75(2):150-6. doi: 10.1111/j.1399-0004.2008.01123.x.

PMID:
19215249
20.

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

Matsushita T, Wilcox WR, Chan YY, Kawanami A, Bükülmez H, Balmes G, Krejci P, Mekikian PB, Otani K, Yamaura I, Warman ML, Givol D, Murakami S.

Hum Mol Genet. 2009 Jan 15;18(2):227-40. doi: 10.1093/hmg/ddn339. Epub 2008 Oct 15.

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