Literature DB >> 8589699

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.

P L Tavormina1, D L Rimoin, D H Cohn, Y Z Zhu, R Shiang, J J Wasmuth.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1995        PMID: 8589699     DOI: 10.1093/hmg/4.11.2175

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


× No keyword cloud information.
  22 in total

Review 1.  Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.

Authors:  A O Wilkie
Journal:  Indian J Pediatr       Date:  1996 May-Jun       Impact factor: 1.967

2.  Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

Authors:  April N Meyer; Peggy Modaff; Clark G Wang; Elizabeth Wohler; Nara L Sobreira; Daniel J Donoghue; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2020-12-02       Impact factor: 2.802

Review 3.  Molecular genesis of non-muscle-invasive urothelial carcinoma (NMIUC).

Authors:  Courtney Pollard; Steven C Smith; Dan Theodorescu
Journal:  Expert Rev Mol Med       Date:  2010-03-25       Impact factor: 5.600

Review 4.  FGFR3-related dwarfism and cell signaling.

Authors:  Daisuke Harada; Yoshitaka Yamanaka; Koso Ueda; Hiroyuki Tanaka; Yoshiki Seino
Journal:  J Bone Miner Metab       Date:  2008-12-09       Impact factor: 2.626

5.  A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Authors:  M Muenke; K W Gripp; D M McDonald-McGinn; K Gaudenz; L A Whitaker; S P Bartlett; R I Markowitz; N H Robin; N Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; G Hollway; L C Adès; E A Haan; J C Mulley; M M Cohen; G A Bellus; C A Francomano; D M Moloney; S A Wall; A O Wilkie
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

6.  Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.

Authors:  L M Thompson; S Raffioni; J J Wasmuth; R A Bradshaw
Journal:  Mol Cell Biol       Date:  1997-07       Impact factor: 4.272

7.  A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

Authors:  D Wilkes; P Rutland; L J Pulleyn; W Reardon; C Moss; J P Ellis; R M Winter; S Malcolm
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

Review 8.  FGF signaling in the developing endochondral skeleton.

Authors:  David M Ornitz
Journal:  Cytokine Growth Factor Rev       Date:  2005-04-01       Impact factor: 7.638

9.  The core protein of growth plate perlecan binds FGF-18 and alters its mitogenic effect on chondrocytes.

Authors:  Simone M-L Smith; Leigh A West; John R Hassell
Journal:  Arch Biochem Biophys       Date:  2007-10-22       Impact factor: 4.013

Review 10.  Of hedgehogs and hereditary bone tumors: re-examination of the pathogenesis of osteochondromas.

Authors:  Kevin B Jones; Jose A Morcuende
Journal:  Iowa Orthop J       Date:  2003
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.