Literature DB >> 9229114

Skeletal disorders associated with fibroblast growth factor receptor mutations.

L De Moerlooze1, C Dickson.   

Abstract

Mutations in three fibroblast growth factor receptor loci underlie several autosomal dominant skeletal disorders; these include dwarfism and various craniosynostosis syndromes affecting limb and craniofacial bone patterning. A functional analysis of several of these mutations has demonstrated that a constitutive activation of the receptor kinase is a common theme.

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Year:  1997        PMID： 9229114     DOI： 10.1016/s0959-437x(97)80152-9

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  16 in total

1.  Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses.

Authors:  C D Robson; J B Mulliken; R L Robertson; M R Proctor; D Steinberger; P D Barnes; A McFarren; U Müller; D Zurakowski
Journal:  AJNR Am J Neuroradiol       Date:  2000-10       Impact factor: 3.825

2.  A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.

Authors:  M K Hajihosseini; S Wilson; L De Moerlooze; C Dickson
Journal:  Proc Natl Acad Sci U S A       Date:  2001-03-27       Impact factor: 11.205

3.  Expression of FGFR-2 and FGFR-3 in the normal human fetal orbit.

Authors:  S H Khan; J A Britto; R D Evans; K K Nischal
Journal:  Br J Ophthalmol       Date:  2005-12       Impact factor: 4.638

4.  clr-1 encodes a receptor tyrosine phosphatase that negatively regulates an FGF receptor signaling pathway in Caenorhabditis elegans.

Authors:  M Kokel; C Z Borland; L DeLong; H R Horvitz; M J Stern
Journal:  Genes Dev       Date:  1998-05-15       Impact factor: 11.361

5.  Mouse models for investigating the developmental basis of human birth defects.

Authors:  Anne M Moon
Journal:  Pediatr Res       Date:  2006-04-26       Impact factor: 3.756

6.  A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.

Authors:  Y Wang; M K Spatz; K Kannan; H Hayk; A Avivi; M Gorivodsky; M Pines; A Yayon; P Lonai; D Givol
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-13       Impact factor: 11.205

7.  Effects of FGF2 and FGF9 on osteogenic differentiation of bone marrow-derived progenitors.

Authors:  T Kizhner; D Ben-David; E Rom; A Yayon; E Livne
Journal:  In Vitro Cell Dev Biol Anim       Date:  2011-02-27       Impact factor: 2.416

8.  Nuclear isoforms of fibroblast growth factor 2 are novel inducers of hypophosphatemia via modulation of FGF23 and KLOTHO.

Authors:  Liping Xiao; Takahiro Naganawa; Joseph Lorenzo; Thomas O Carpenter; J Douglas Coffin; Marja M Hurley
Journal:  J Biol Chem       Date:  2009-11-20       Impact factor: 5.157

9.  Fibroblast growth factor 18 gives growth and directional cues to airway cartilage.

Authors:  Ravindhra G Elluru; Felisa Thompson; Alisa Reece
Journal:  Laryngoscope       Date:  2009-06       Impact factor: 3.325

10.  Germ-line expression of an oncogenic erbB2 allele confers resistance to erbB2-induced mammary tumorigenesis.

Authors:  Eran R Andrechek; William R Hardy; Michael A Laing; William J Muller
Journal:  Proc Natl Acad Sci U S A       Date:  2004-03-29       Impact factor: 11.205
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