메뉴 건너뛰기




Volumn 102, Issue 2, 1998, Pages 145-150

The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR; IMMUNOGLOBULIN;

EID: 0031896814     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050668     Document Type: Article
Times cited : (28)

References (37)
  • 1
    • 0028803613 scopus 로고
    • Outline structures for the extracellular domains of the fibroblast growth factor receptors
    • Bateman A, Chothia C (1995) Outline structures for the extracellular domains of the fibroblast growth factor receptors. Nat Struct Biol 2:1068-1074
    • (1995) Nat Struct Biol , vol.2 , pp. 1068-1074
    • Bateman, A.1    Chothia, C.2
  • 2
    • 0029798614 scopus 로고    scopus 로고
    • Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
    • Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176
    • (1996) Nat Genet , vol.14 , pp. 174-176
    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3    Clarke, L.A.4    Szabo, J.5    Francomano, C.A.6    Muenke, M.7
  • 3
    • 0028172534 scopus 로고
    • The immunoglobulin fold structural classification, sequence patterns and common core
    • Bork P, Holm L, Sander C (1994) The immunoglobulin fold structural classification, sequence patterns and common core. J Mol Biol 242:309-320
    • (1994) J Mol Biol , vol.242 , pp. 309-320
    • Bork, P.1    Holm, L.2    Sander, C.3
  • 4
    • 0028863047 scopus 로고
    • The use of position-specific rotamers in model building by homology
    • Chinea G, Padron G, Hooft RW, Sander C, Vriend G (1995) The use of position-specific rotamers in model building by homology. Proteins 23:415-421
    • (1995) Proteins , vol.23 , pp. 415-421
    • Chinea, G.1    Padron, G.2    Hooft, R.W.3    Sander, C.4    Vriend, G.5
  • 5
    • 0029027799 scopus 로고
    • Crouzon syndrome synonymous mutation activates a 5′ splice site within the IIIc exon of the FGFR2 gene
    • Del Gatto F, Breathnach R (1995) Crouzon syndrome synonymous mutation activates a 5′ splice site within the IIIc exon of the FGFR2 gene. Genomics 27:558-559
    • (1995) Genomics , vol.27 , pp. 558-559
    • Del Gatto, F.1    Breathnach, R.2
  • 6
  • 7
    • 0021095485 scopus 로고
    • Structure of a novel Bence-Jones protein (Rhe) fragment at 1.6 Angstroms resolution
    • Furey Jr W, Wang BC, Yoo CS, Sax M (1983) Structure of a novel Bence-Jones protein (Rhe) fragment at 1.6 Angstroms resolution. J Mol Biol 167:661-692
    • (1983) J Mol Biol , vol.167 , pp. 661-692
    • Furey Jr., W.1    Wang, B.C.2    Yoo, C.S.3    Sax, M.4
  • 8
    • 0027050480 scopus 로고
    • Complexity of FGF receptors: Genetic basis for structural diversity and functional specificity
    • Givol D, Yayon A (1992) Complexity of FGF receptors: genetic basis for structural diversity and functional specificity. FASEB J 6:3362-3369
    • (1992) FASEB J , vol.6 , pp. 3362-3369
    • Givol, D.1    Yayon, A.2
  • 12
    • 0027344852 scopus 로고
    • Structural and functional diversity in the FGF receptor multigene family
    • Johnson DE, Williams LT (1993) Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 60: 1-41
    • (1993) Adv Cancer Res , vol.60 , pp. 1-41
    • Johnson, D.E.1    Williams, L.T.2
  • 13
    • 0025912340 scopus 로고
    • The human fibroblast growth factor receptor genes: A common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain
    • Johnson DE, Lu J, Chen H, Werner S, Williams LT (1991) The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain. Mol Cell Biol 11:4627-4634
    • (1991) Mol Cell Biol , vol.11 , pp. 4627-4634
    • Johnson, D.E.1    Lu, J.2    Chen, H.3    Werner, S.4    Williams, L.T.5
  • 14
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 18
    • 0028846512 scopus 로고
    • Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome
    • Neilson KM, Friesel RE (1995) Constitutive activation of fibroblast growth factor receptor-2 by a point mutation associated with Crouzon syndrome. J Biol Chem 270:26037-26040
    • (1995) J Biol Chem , vol.270 , pp. 26037-26040
    • Neilson, K.M.1    Friesel, R.E.2
  • 19
    • 0029764116 scopus 로고    scopus 로고
    • Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains
    • Neilson KM, Friesel RE (1996) Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains. J Biol Chem 271:25049-25057
    • (1996) J Biol Chem , vol.271 , pp. 25049-25057
    • Neilson, K.M.1    Friesel, R.E.2
  • 22
    • 0029004086 scopus 로고
    • Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
    • Park WJ, Meyers, GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW (1995a) Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4:1229-1233
    • (1995) Hum Mol Genet , vol.4 , pp. 1229-1233
    • Park, W.J.1    Meyers, G.A.2    Li, X.3    Theda, C.4    Day, D.5    Orlow, S.J.6    Jones, M.C.7    Jabs, E.W.8
  • 28
    • 0030038496 scopus 로고    scopus 로고
    • First-trimester prenatal diagnosis of Crouzon syndrome
    • Schwartz M, Kreiborg S, Skovby F (1996) First-trimester prenatal diagnosis of Crouzon syndrome. Prenat Diagn 16:155-158
    • (1996) Prenat Diagn , vol.16 , pp. 155-158
    • Schwartz, M.1    Kreiborg, S.2    Skovby, F.3
  • 31
    • 0029053457 scopus 로고
    • Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome
    • Steinberger D, Mulliken JB, Müller U (1995) Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum Genet 96:113-115
    • (1995) Hum Genet , vol.96 , pp. 113-115
    • Steinberger, D.1    Mulliken, J.B.2    Müller, U.3
  • 32
    • 0029801057 scopus 로고    scopus 로고
    • Crouzon syndrome: Previously unrecognized deletion, duplication and point mutation within FGFR2 gene
    • Steinberger D, Mulliken JB, Müller U (1996a) Crouzon syndrome: previously unrecognized deletion, duplication and point mutation within FGFR2 gene. Hum Mutat 8:386-390
    • (1996) Hum Mutat , vol.8 , pp. 386-390
    • Steinberger, D.1    Mulliken, J.B.2    Müller, U.3
  • 33
    • 0029957404 scopus 로고    scopus 로고
    • FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation
    • Steinberger D, Reinhartz T, Unsöld R, Müller U (1996b) FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. Am J Med Genet 66:81-86
    • (1996) Am J Med Genet , vol.66 , pp. 81-86
    • Steinberger, D.1    Reinhartz, T.2    Unsöld, R.3    Müller, U.4
  • 34
    • 0030976827 scopus 로고    scopus 로고
    • A novel mutation (a886→g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly
    • Steinberger D, Collmann H, Schmalenberger B, Müller U (1997) A novel mutation (a886→g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. J Med Genet 34:420-422
    • (1997) J Med Genet , vol.34 , pp. 420-422
    • Steinberger, D.1    Collmann, H.2    Schmalenberger, B.3    Müller, U.4
  • 35
    • 0025398721 scopus 로고
    • WHAT IF: A molecular modeling and drug design program
    • Vriend G (1990) WHAT IF: a molecular modeling and drug design program. J Mol Graph 8:52-56
    • (1990) J Mol Graph , vol.8 , pp. 52-56
    • Vriend, G.1
  • 37
    • 0025976838 scopus 로고
    • Cell surface heparin-like molecules are required for binding of bFGF to its high affinity receptor
    • Yayon A, Klagsbrun M, Esko JD, Leder P, Ornitz DM (1991) Cell surface heparin-like molecules are required for binding of bFGF to its high affinity receptor. Cell 64:841-848
    • (1991) Cell , vol.64 , pp. 841-848
    • Yayon, A.1    Klagsbrun, M.2    Esko, J.D.3    Leder, P.4    Ornitz, D.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.