메뉴 건너뛰기




Volumn 22, Issue 5-6, 2011, Pages 290-305

A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN;

EID: 80051553050     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-011-9324-8     Document Type: Article
Times cited : (15)

References (61)
  • 1
    • 46249129455 scopus 로고    scopus 로고
    • Extracellular point mutations in FGFR2 elicit unexpected changes in intracellular signalling
    • DOI 10.1042/BJ20071594
    • Ahmed Z, Schüller AC, Suhling K, Tregidgo C, Ladbury JE (2008) Extracellular point mutations in FGFR2 elicit unexpected changes in intracellular signalling. Biochem J 413:37-49 (Pubitemid 351946860)
    • (2008) Biochemical Journal , vol.413 , Issue.1 , pp. 37-49
    • Ahmed, Z.1    Schuller, A.C.2    Suhling, K.3    Tregidgo, C.4    Ladbury, J.E.5
  • 3
    • 0035145132 scopus 로고    scopus 로고
    • Expression of members of the Fgf family and their receptors during midfacial development
    • DOI 10.1016/S0925-4773(00)00518-9, PII S0925477300005189
    • Bachler M, Neubüser A (2001) Expression of members of the Fgf family and their receptors during midfacial development. Mech Dev 100:313-316 (Pubitemid 32109340)
    • (2001) Mechanisms of Development , vol.100 , Issue.2 , pp. 313-316
    • Bachler, M.1    Neubuser, A.2
  • 8
    • 18144383021 scopus 로고    scopus 로고
    • Cellular signaling by fibroblast growth factor receptors
    • DOI 10.1016/j.cytogfr.2005.01.001
    • Eswarakumar VP, Lax I, Schlessinger J (2005) Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev 16:139-149 (Pubitemid 40616112)
    • (2005) Cytokine and Growth Factor Reviews , vol.16 , Issue.2 SPEC. ISSUE , pp. 139-149
    • Eswarakumar, V.P.1    Lax, I.2    Schlessinger, J.3
  • 10
    • 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 (Pubitemid 23007101)
    • (1992) FASEB Journal , vol.6 , Issue.15 , pp. 3362-3369
    • Givol, D.1    Yayon, A.2
  • 11
    • 0022606922 scopus 로고
    • Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance
    • Grigorescu F, Flier JS, Kahn CR (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance. Diabetes 35:127-138 (Pubitemid 16121528)
    • (1986) Diabetes , vol.35 , Issue.2 , pp. 127-138
    • Grigorescu, F.1    Flier, J.S.2    Kahn, C.R.3
  • 12
    • 0021895138 scopus 로고
    • 2+ indicators with greatly improved fluorescence properties
    • Grynkiewicz G, Poenie M, Tsien RY (1985) A new generation of Ca2? indicators with greatly improved fluorescence properties. J Biol Chem 260:3440-3450 (Pubitemid 15114340)
    • (1985) Journal of Biological Chemistry , vol.260 , Issue.6 , pp. 3440-3450
    • Grynkiewicz, G.1    Poenie, M.2    Tsien, R.Y.3
  • 13
    • 0031835659 scopus 로고    scopus 로고
    • Binding of Shp2 tyrosine phosphatase to FRS2 is essential for fibroblast growth factor-induced PC12 cell differentiation
    • Hadari YR, Kouhara H, Lax I, Schlessinger J (1998) Binding of Shp2 tyrosine phosphatase to FRS2 is essential for fibroblast growth factor-induced PC12 cell differentiation. Mol Cell Biol 18: 3966-3973 (Pubitemid 28287920)
    • (1998) Molecular and Cellular Biology , vol.18 , Issue.7 , pp. 3966-3973
    • Hadari, Y.R.1    Kouhara, H.2    Lax, I.3    Schlessinger, J.4
  • 16
    • 0023885305 scopus 로고
    • The protein kinase family: Conserved features and deduced phylogeny of the catalytic domains
    • Hanks SK, Quinn AM, Hunter T (1988) The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. Science 241:42-52
    • (1988) Science , vol.241 , pp. 42-52
    • Hanks, S.K.1    Quinn, A.M.2    Hunter, T.3
  • 18
    • 0037351187 scopus 로고    scopus 로고
    • FGF signaling through FGFR1 is required for olfactory bulb morphogenesis
    • DOI 10.1242/dev.00334
    • Hebert JM, Lin M, Partanen J, Rossant J, McConnell SK (2003) FGF signaling through FGFR1 is required for olfactory bulb morphogenesis. Development 130:1101-1111 (Pubitemid 36395692)
    • (2003) Development , vol.130 , Issue.6 , pp. 1101-1111
    • Hebert, J.M.1    Lin, M.2    Partanen, J.3    Rossant, J.4    McConnell, S.K.5
  • 19
    • 33645068866 scopus 로고    scopus 로고
    • Context-specific requirements for Fgfr1 signaling through Frs2 and Frs3 during mouse development
    • Hoch RV, Soriano P (2006) Context-specific requirements for Fgfr1 signaling through Frs2 and Frs3 during mouse development. Development 133:663-673
    • (2006) Development , vol.133 , pp. 663-673
    • Hoch, R.V.1    Soriano, P.2
  • 21
    • 0028582185 scopus 로고
    • Crystal structure of the tyrosine kinase domain of the human insulin receptor
    • Hubbard SR, Wei L, Ellis L, Hendrickson WA (1994) Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature 372:746-754
    • (1994) Nature , vol.372 , pp. 746-754
    • Hubbard, S.R.1    Wei, L.2    Ellis, L.3    Hendrickson, W.A.4
  • 23
    • 0017061116 scopus 로고
    • Differential staining of cartilage and bone in fetal mouse skeleton by alcian blue and alizarin red S
    • Inouye M (1976) Differential staining of cartilage and bone in fetal mouse skeleton by alcian blue and alizarin red S. Cong Anom 16:171-173 (Pubitemid 8026339)
    • (1976) Congenital Anomalies , vol.16 , Issue.3 , pp. 171-173
    • Inouye, M.1
  • 24
    • 0028081787 scopus 로고
    • Cloning and expression of fibroblast growth factor receptor-1 isoforms in the mouse heart: Evidence for isoform switching during heart development
    • DOI 10.1006/jmcc.1994.1164
    • Jin Y, Pasumarthi KB, Bock ME, Lytras A, Kardami E, Cattini PA (1994) Cloning and expression of fibroblast growth factor receptor-1 isoforms in the mouse heart: evidence for isoform switching during heart development. J Mol Cell Cardiol 26: 1449-1459 (Pubitemid 24350154)
    • (1994) Journal of Molecular and Cellular Cardiology , vol.26 , Issue.11 , pp. 1449-1459
    • Jin, Y.1    Pasumarthi, B.S.2    Bock, M.E.3    Lytras, A.4    Kardami, E.5    Cattini, P.A.6
  • 25
    • 0027192075 scopus 로고
    • An essential heparin-binding domain in the fibroblast growth factor receptor kinase
    • Kan M, Wang F, Xu J, Crabb JW, Hou J, McKeehan WL (1993) An essential heparin-binding domain in the fibroblast growth factor receptor kinase. Science 259:1918-1921 (Pubitemid 23124467)
    • (1993) Science , vol.259 , Issue.5103 , pp. 1918-1921
    • Kan, M.1    Wang, F.2    Xu, J.3    Crabb, J.W.4    Hou, J.5    McKeehan, W.L.6
  • 26
    • 0030706168 scopus 로고    scopus 로고
    • A lipid-anchored Grb2-binding protein that links FGF-receptor activation to the Ras/MAPK signaling pathway
    • Kouhara H, Hadari YR, Spivak-Kroizman T, Schilling J, Bar-Sagi D, Lax I, Schlessinger J (1997) A lipid-anchored Grb2-binding protein that links FGF-receptor activation to the Ras/MAPK signaling pathway. Cell 89:693-702 (Pubitemid 27516172)
    • (1997) Cell , vol.89 , Issue.5 , pp. 693-702
    • Kouhara, H.1    Hadari, Y.R.2    Spivak-Kroizman, T.3    Schilling, J.4    Bar-Sagi, D.5    Lax, I.6    Schlessinger, J.7
  • 28
    • 12344278405 scopus 로고    scopus 로고
    • FRS2-dependent SRC activation is required for fibroblast growth factor receptor-induced phosphorylation of Sprouty and suppression of ERK activity
    • DOI 10.1242/jcs.01519
    • Li X, Brunton VG, Burgar HR, Wheldon LM, Heath JK (2004) FRS2- dependent SRC activation is required for fibroblast growth factor receptor-induced phosphorylation of Sprouty and suppression of ERK activity. J Cell Sci 117:6007-6017 (Pubitemid 40123967)
    • (2004) Journal of Cell Science , vol.117 , Issue.25 , pp. 6007-6017
    • Li, X.1    Brunton, V.G.2    Burgar, H.R.3    Wheldon, L.M.4    Heath, J.K.5
  • 29
    • 33846472047 scopus 로고    scopus 로고
    • Dusp6 (Mkp3) is a negative feedback regulator of FgF-stimulated ERK signaling during mouse development
    • DOI 10.1242/dev.02701
    • Li C, Scott DA, Hatch E, Tian X, Mansour SL (2007) Dusp6 (Mkp3) is a negative feedback regulator of FGF-stimulated ERK signaling during mouse development. Development 134:167-176 (Pubitemid 46152717)
    • (2007) Development , vol.134 , Issue.1 , pp. 167-176
    • Li, C.1    Scott, D.A.2    Hatch, E.3    Tian, X.4    Mansour, S.L.5
  • 30
    • 0031934974 scopus 로고    scopus 로고
    • Embryological and genetic aspects of middle ear development
    • Mallo M (1998) Embryological and genetic aspects of middle ear development. Int J Dev Biol 42:11-22 (Pubitemid 28088188)
    • (1998) International Journal of Developmental Biology , vol.42 , Issue.1 , pp. 11-22
    • Mallo, M.1
  • 31
    • 0019126423 scopus 로고
    • Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S
    • DOI 10.1002/tera.1420220306
    • McLeod MJ (1980) Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 22:299-301 (Pubitemid 11209786)
    • (1980) Teratology , vol.22 , Issue.3 , pp. 299-301
    • McLeod, M.J.1
  • 32
    • 33846709493 scopus 로고    scopus 로고
    • Differential signal transduction of alternatively spliced FGFR2 variants expressed in human mammary epithelial cells
    • DOI 10.1002/jcp.20880
    • Moffa AB, Ethier SP (2007) Differential signal transduction of alternatively spliced FGFR2 variants expressed in human mammary epithelial cells. J Cell Physiol 210:720-731 (Pubitemid 46188288)
    • (2007) Journal of Cellular Physiology , vol.210 , Issue.3 , pp. 720-731
    • Moffa, A.B.1    Ethier, S.P.2
  • 33
    • 0030598848 scopus 로고    scopus 로고
    • Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism
    • DOI 10.1016/S0092-8674(00)80131-2
    • Mohammadi M, Schlessinger J, Hubbard SR (1996) Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism. Cell 86:577-587 (Pubitemid 26299489)
    • (1996) Cell , vol.86 , Issue.4 , pp. 577-587
    • Mohammadi, M.1    Schlessinger, J.2    Hubbard, T.R.3
  • 34
    • 0024272188 scopus 로고
    • Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance)
    • Moller DE, Flier JS (1988) Detection of an alteration in the insulinreceptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance). N Engl J Med 319:1526-1529 (Pubitemid 19003412)
    • (1988) New England Journal of Medicine , vol.319 , Issue.23 , pp. 1526-1529
    • Moller, D.E.1    Flier, J.S.2
  • 35
    • 0025155555 scopus 로고
    • Functional properties of a naturally occurring Trp1200-Ser1200 mutation of the insulin receptor
    • Moller DE, Yokota A, Ginsberg-Fellner F, Flier JS (1990) Functional properties of a naturally occurring Trp1200-Ser1200 mutation of the insulin receptor. Mol Endocrinol 4:1183-1191
    • (1990) Mol Endocrinol , vol.4 , pp. 1183-1191
    • Moller, D.E.1    Yokota, A.2    Ginsberg-Fellner, F.3    Flier, J.S.4
  • 38
    • 0032146074 scopus 로고    scopus 로고
    • Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos
    • Partanen J, Schwartz L, Rossant J (1998) Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos. Genes Dev 12:2332-2344 (Pubitemid 28371353)
    • (1998) Genes and Development , vol.12 , Issue.15 , pp. 2332-2344
    • Partanen, J.1    Schwartz, L.2    Rossant, J.3
  • 39
    • 11844262678 scopus 로고    scopus 로고
    • Hush puppy: A new mouse mutant with pinna, ossicle, and inner ear defects
    • DOI 10.1097/01.mlg.0000150693.31130.a0
    • Pau H, Fuchs H, de Angelis MH, Steel KP (2005) Hush puppy: a new mouse mutant with pinna, ossicle, and inner ear defects. Laryngoscope 115:116-124 (Pubitemid 40096540)
    • (2005) Laryngoscope , vol.115 , Issue.1 , pp. 116-124
    • Pau, H.1    Fuchs, H.2    De Angelis, M.H.3    Steel, K.P.4
  • 40
    • 0037104646 scopus 로고    scopus 로고
    • FGFR1 is required for the development of the auditory sensory epithelium
    • DOI 10.1016/S0896-6273(02)00824-3
    • Pirvola U, Ylikoski J, Trokovic R, Hebert JM, McConnell SK, Partanen J (2002) FGFR1 is required for the development of the auditory sensory epithelium. Neuron 35:671-680 (Pubitemid 35223027)
    • (2002) Neuron , vol.35 , Issue.4 , pp. 671-680
    • Pirvola, U.1    Ylikoski, J.2    Trokovic, R.3    Hebert, J.M.4    McConnell, S.K.5    Partanen, J.6
  • 41
    • 4344684497 scopus 로고    scopus 로고
    • Fgf9 signaling regulates inner ear morphogenesis through epithelial-mesenchymal interactions
    • DOI 10.1016/j.ydbio.2004.06.010, PII S0012160604004269
    • Pirvola U, Zhang X, Mantela J, Ornitz DM, Ylikoski J (2004) Fgf9 signaling regulates inner ear morphogenesis through epithelialmesenchymal interactions. Dev Biol 273:350-360 (Pubitemid 39144394)
    • (2004) Developmental Biology , vol.273 , Issue.2 , pp. 350-360
    • Pirvola, U.1    Zhang, X.2    Mantela, J.3    Ornitz, D.M.4    Ylikoski, J.5
  • 42
    • 15944364441 scopus 로고    scopus 로고
    • Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene
    • DOI 10.1210/jc.2004-1361
    • Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr (2005) Reversible Kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab 90:1317-1322 (Pubitemid 40463982)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.3 , pp. 1317-1322
    • Pitteloud, N.1    Acierno Jr., J.S.2    Meysing, A.U.3    Dwyer, A.A.4    Hayes, F.J.5    Crowley Jr., W.F.6
  • 44
    • 0025835670 scopus 로고
    • Requirement of heparan sulfate for bFGF-mediated fibroblast growth and myoblast differentiation
    • Rapraeger AC, Krufka A, Olwin BB (1991) Requirement of heparan sulfate for bFGF-mediated fibroblast growth and myoblast differentiation. Science 252:1705-1708 (Pubitemid 21917092)
    • (1991) Science , vol.252 , Issue.5013 , pp. 1705-1708
    • Rapraeger, A.C.1    Krufka, A.2    Olwin, B.B.3
  • 45
    • 0043208839 scopus 로고    scopus 로고
    • Fgfr mRNA isoforms in craniofacial bone development
    • DOI 10.1016/S8756-3282(03)00163-7
    • Rice DPC, Rice R, Thesleff I (2003) Fgfr mRNA isoforms in craniofacial bone development. Bone 33:14-27 (Pubitemid 36952684)
    • (2003) Bone , vol.33 , Issue.1 , pp. 14-27
    • Rice, D.P.C.1    Rice, R.2    Thesleff, I.3
  • 47
    • 35649026742 scopus 로고    scopus 로고
    • SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis
    • DOI 10.1242/dev.007906
    • Rizzoti K, Lovell-Badge R (2007) SOX3 activity during pharyngeal segmentation is required for craniofacial morphogenesis. Development 134:3437-3448 (Pubitemid 350028363)
    • (2007) Development , vol.134 , Issue.19 , pp. 3437-3448
    • Rizzoti, K.1    Lovell-Badge, R.2
  • 48
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Krawetz S, Misener S eds . Humana Press, Totowa, NJ
    • Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. In: Krawetz S, Misener S (eds) Bioinformatics methods and protocols: methods in molecular biology. Humana Press, Totowa, NJ, pp 365-386
    • (2000) Bioinformatics Methods and Protocols: Methods in Molecular Biology , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 51
    • 33751162364 scopus 로고    scopus 로고
    • Different abilities of the four FGFRs to mediate FGF-1 translocation are linked to differences in the receptor C-terminal tail
    • DOI 10.1242/jcs.03209
    • Sørensen V, Wiedlocha A, Haugsten EM, Khnykin D, Wesche J, Olsnes S (2006) Different abilities of the four FGFRs to mediate FGF-1 translocation are linked to differences in the receptor C-terminal tail. J Cell Sci 119:4332-4341 (Pubitemid 44774040)
    • (2006) Journal of Cell Science , vol.119 , Issue.20 , pp. 4332-4341
    • Sorensen, V.1    Wiedlocha, A.2    Haugsten, E.M.3    Khnykin, D.4    Wesche, J.5    Olsnes, S.6
  • 52
    • 0037276004 scopus 로고    scopus 로고
    • Parathyroid hormone increases the sensitivity of inositol trisphosphate receptors by a mechanism that is independent of cyclic AMP
    • DOI 10.1038/sj.bjp.0705011
    • Tovey SC, Goraya TA, Taylor CW (2003) Parathyroid hormone increases the sensitivity of inositol trisphosphate receptors by a mechanism that is independent of cyclic AMP. Br J Pharmacol 138:81-90 (Pubitemid 36194206)
    • (2003) British Journal of Pharmacology , vol.138 , Issue.1 , pp. 81-90
    • Tovey, S.C.1    Goraya, T.A.2    Taylor, C.W.3
  • 54
    • 0037227318 scopus 로고    scopus 로고
    • Fgfr1 regulates patterning of the pharyngeal region
    • DOI 10.1101/gad.250703
    • Trokovic N, Trokovic R, Mai P, Partanen J (2003) Fgfr1 regulates patterning of the pharyngeal region. Genes Dev 17:141-153 (Pubitemid 36062515)
    • (2003) Genes and Development , vol.17 , Issue.1 , pp. 141-153
    • Trokovic, N.1    Trokovic, R.2    Mai, P.3    Partanen, J.4
  • 56
    • 37249044796 scopus 로고    scopus 로고
    • FGF signaling acts upstream of the NOTCH and WNT signaling pathways to control segmentation clock oscillations in mouse somitogenesis
    • DOI 10.1242/dev.009167
    • Wahl MB, Deng C, Lewadoski M, Pourquié O (2007) FGF signaling acts upstream of the NOTCH and WNT signaling pathways to control segmentation clock oscillations in mouse somitogenesis. Development 134:4033-4041 (Pubitemid 350269420)
    • (2007) Development , vol.134 , Issue.22 , pp. 4033-4041
    • Wahl, M.B.1    Deng, C.2    Lewandowski, M.3    Pourquie, O.4
  • 58
    • 80051550939 scopus 로고    scopus 로고
    • FGF Receptor mutations: Bone dysplasia, craniosynostosis, and other syndromes
    • Epstein CJ, Erickson RP, Wynshaw-Boris A eds. University Press, Oxford
    • Wilkie AOM (2008) FGF Receptor mutations: bone dysplasia, craniosynostosis, and other syndromes. In: Epstein CJ, Erickson RP, Wynshaw-Boris A (eds) Inborn errors of development. Oxford University Press, Oxford, pp 461-470
    • (2008) Inborn errors of development. Oxford , pp. 461-470
    • Wilkie, A.O.M.1
  • 59
    • 0028582035 scopus 로고
    • Fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation
    • Yamaguchi TP, Harpal K, Henkemeyer M, Rossant J (1994) fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation. Genes Dev 8:3032-3044
    • (1994) Genes Dev , vol.8 , pp. 3032-3044
    • Yamaguchi, T.P.1    Harpal, K.2    Henkemeyer, M.3    Rossant, J.4
  • 60
  • 61
    • 30444441675 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 1 (Fgfr1) is not essential for lens fiber differentiation in mice
    • Zhao H, Yang Y, Partanen J, Ciruna BG, Rossant J, Robinson ML (2006) Fibroblast growth factor receptor 1 (Fgfr1) is not essential for lens fiber differentiation in mice. Mol Vis 12:15-25 (Pubitemid 43072817)
    • (2006) Molecular Vision , vol.12 , pp. 15-25
    • Zhao, H.1    Yang, Y.2    Partanen, J.3    Ciruna, B.G.4    Rossant, J.5    Robinson, M.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.