메뉴 건너뛰기




Volumn 91, Issue 7, 2011, Pages 603-609

Facial suture synostosis of newborn Fgfr1P250R/+ and Fgfr2S252W/+ mouse models of Pfeiffer and Apert syndromes

Author keywords

Apert syndrome; Midface; Midfacial; Mouse; Pfeiffer syndrome; Sutures; Synostosis

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

EID: 79960064424     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20811     Document Type: Article
Times cited : (33)

References (36)
  • 1
    • 0035145132 scopus 로고    scopus 로고
    • Expression of members of the Fgf family and their receptors during midfacial development
    • Bachler M, Neubüser A. 2001. Expression of members of the Fgf family and their receptors during midfacial development. Mech Dev 100: 313-316.
    • (2001) Mech Dev , vol.100 , pp. 313-316
    • Bachler, M.1    Neubüser, A.2
  • 2
    • 40849098572 scopus 로고    scopus 로고
    • The emergence of ectomesenchyme
    • Blentic A, Tandon P, Payton S, et al. 2008. The emergence of ectomesenchyme. Dev Dyn 237: 592-601.
    • (2008) Dev Dyn , vol.237 , pp. 592-601
    • Blentic, A.1    Tandon, P.2    Payton, S.3
  • 3
    • 59749092295 scopus 로고    scopus 로고
    • Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily
    • Bochukova EG, Roscioli T, Hedges DJ, et al. 2009. Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 30: 204-211.
    • (2009) Hum Mutat , vol.30 , pp. 204-211
    • Bochukova, E.G.1    Roscioli, T.2    Hedges, D.J.3
  • 4
    • 0035661208 scopus 로고    scopus 로고
    • From genotype to phenotype: the differential expression of FGF, FGFR, and TGF beta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes
    • discussion 2040-2046.
    • Britto JA, Evans RD, Hayward RD, Jones BM. 2001. From genotype to phenotype: the differential expression of FGF, FGFR, and TGF beta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes. Plast Reconstr Surg 108: 2026-2039; discussion 2040-2046.
    • (2001) Plast Reconstr Surg , vol.108 , pp. 2026-2039
    • Britto, J.A.1    Evans, R.D.2    Hayward, R.D.3    Jones, B.M.4
  • 5
    • 0036251122 scopus 로고    scopus 로고
    • Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion
    • Britto JA, Evans RD, Hayward RD, Jones BM. 2002. Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion. Cleft Palate Craniofac J 39: 332-340.
    • (2002) Cleft Palate Craniofac J , vol.39 , pp. 332-340
    • Britto, J.A.1    Evans, R.D.2    Hayward, R.D.3    Jones, B.M.4
  • 6
    • 0141678494 scopus 로고    scopus 로고
    • A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis
    • Chen L, Li D, Li C, et al. 2003. A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis. Bone 33: 169-178.
    • (2003) Bone , vol.33 , pp. 169-178
    • Chen, L.1    Li, D.2    Li, C.3
  • 7
    • 28444460387 scopus 로고    scopus 로고
    • Patterning the neural crest derivatives during development of the vertebrate head: insights from avian studies
    • Creuzet S, Couly G, Le Douarin NM. 2005. Patterning the neural crest derivatives during development of the vertebrate head: insights from avian studies. J Anat 207: 447-459.
    • (2005) J Anat , vol.207 , pp. 447-459
    • Creuzet, S.1    Couly, G.2    Le Douarin, N.M.3
  • 8
    • 0036671733 scopus 로고    scopus 로고
    • The IIIc alternative of Fgfr2 is a positive regulator of bone formation
    • Eswarakumar VP, Monsonego-Ornan E, Pines M, et al. 2002. The IIIc alternative of Fgfr2 is a positive regulator of bone formation. Development 129: 3783-3793.
    • (2002) Development , vol.129 , pp. 3783-3793
    • Eswarakumar, V.P.1    Monsonego-Ornan, E.2    Pines, M.3
  • 10
    • 0842279779 scopus 로고    scopus 로고
    • Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics
    • Hajihosseini MK, Lalioti MD, Arthaud S, et al. 2004. Skeletal development is regulated by fibroblast growth factor receptor 1 signalling dynamics. Development 131: 325-335.
    • (2004) Development , vol.131 , pp. 325-335
    • Hajihosseini, M.K.1    Lalioti, M.D.2    Arthaud, S.3
  • 11
    • 59649102280 scopus 로고    scopus 로고
    • Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model
    • Hajihosseini MK, Duarte R, Pegrum J, et al. 2009. Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model. Dev Dyn 238: 376-385.
    • (2009) Dev Dyn , vol.238 , pp. 376-385
    • Hajihosseini, M.K.1    Duarte, R.2    Pegrum, J.3
  • 12
    • 38149134409 scopus 로고    scopus 로고
    • Functional evolutionary history of the mouse Fgf gene family
    • Itoh N, Ornitz DM. 2008. Functional evolutionary history of the mouse Fgf gene family. Dev Dyn 237: 18-27.
    • (2008) Dev Dyn , vol.237 , pp. 18-27
    • Itoh, N.1    Ornitz, D.M.2
  • 13
    • 0012586315 scopus 로고
    • The functional matrix hypothesis: reflections in a jaundiced eye
    • McNamara JA, editor. Ann Arbor: University of Michigan Press.
    • Johnson LE. 1976. The functional matrix hypothesis: reflections in a jaundiced eye. In: McNamara JA, editor. Factors affecting the growth of the midface. Ann Arbor: University of Michigan Press. pp 131-168.
    • (1976) Factors affecting the growth of the midface , pp. 131-168
    • Johnson, L.E.1
  • 14
    • 0036149534 scopus 로고    scopus 로고
    • Tissue origins and interactions in the mammalian skull vault
    • Jiang X, Iseki S, Maxson RE, et al. 2002. Tissue origins and interactions in the mammalian skull vault. Dev Biol 241: 106-116.
    • (2002) Dev Biol , vol.241 , pp. 106-116
    • Jiang, X.1    Iseki, S.2    Maxson, R.E.3
  • 16
    • 0027234483 scopus 로고
    • Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes
    • Kreiborg S, Marsh JL, Cohen MM Jr, et al. 1993. Comparative three-dimensional analysis of CT-scans of the calvaria and cranial base in Apert and Crouzon syndromes. J Craniomaxillofac Surg 21: 181-188.
    • (1993) J Craniomaxillofac Surg , vol.21 , pp. 181-188
    • Kreiborg, S.1    Marsh, J.L.2    Cohen Jr., M.M.3
  • 17
    • 0034485778 scopus 로고    scopus 로고
    • An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly
    • Kress W, Petersen B, Collmann H, Grimm T. 2000. An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly. Cytogenet Cell Genet 91: 138-140.
    • (2000) Cytogenet Cell Genet , vol.91 , pp. 138-140
    • Kress, W.1    Petersen, B.2    Collmann, H.3    Grimm, T.4
  • 18
    • 35148893111 scopus 로고    scopus 로고
    • Role of the neural crest in face and brain development
    • Le Douarin NM, Brito JM, Creuzet S. 2007. Role of the neural crest in face and brain development. Brain Res Rev 55: 237-247.
    • (2007) Brain Res Rev , vol.55 , pp. 237-247
    • Le Douarin, N.M.1    Brito, J.M.2    Creuzet, S.3
  • 19
    • 77958594664 scopus 로고    scopus 로고
    • Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth
    • Martínez-Abadías N, Percival C, Aldridge K, et al. 2010. Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn 239: 3058-3071.
    • (2010) Dev Dyn , vol.239 , pp. 3058-3071
    • Martínez-Abadías, N.1    Percival, C.2    Aldridge, K.3
  • 20
    • 0019126423 scopus 로고
    • Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S
    • McLeod MJ. 1980. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 22: 299-301.
    • (1980) Teratology , vol.22 , pp. 299-301
    • McLeod, M.J.1
  • 21
    • 0026570847 scopus 로고
    • Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene
    • Miki T, Bottaro DP, Fleming TP, et al. 1992. Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene. Proc Natl Acad Sci U S A 89: 246-250.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 246-250
    • Miki, T.1    Bottaro, D.P.2    Fleming, T.P.3
  • 22
    • 0014298735 scopus 로고
    • The passive role of the nasal septal cartilage in mid-facial growth
    • Moss ML, Bromberg BE, Song IC, Eisenman G. 1968. The passive role of the nasal septal cartilage in mid-facial growth. Plast Reconstr Surg 41: 536-542.
    • (1968) Plast Reconstr Surg , vol.41 , pp. 536-542
    • Moss, M.L.1    Bromberg, B.E.2    Song, I.C.3    Eisenman, G.4
  • 23
    • 20944436322 scopus 로고    scopus 로고
    • Cranial base in craniofacial development: developmental features, influence on facial growth, anomaly, and molecular basis
    • Nie X. 2005. Cranial base in craniofacial development: developmental features, influence on facial growth, anomaly, and molecular basis. Acta Odontol Scand 63: 127-135.
    • (2005) Acta Odontol Scand , vol.63 , pp. 127-135
    • Nie, X.1
  • 24
    • 0033073850 scopus 로고    scopus 로고
    • De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
    • Oldridge M, Zackai EH, McDonald-McGinn DM, et al. 1999. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 64: 446-461.
    • (1999) Am J Hum Genet , vol.64 , pp. 446-461
    • Oldridge, M.1    Zackai, E.H.2    McDonald-McGinn, D.M.3
  • 25
    • 15844368097 scopus 로고    scopus 로고
    • Receptor specificity of the fibroblast growth factor family
    • Ornitz DM, Xu J, Colvin JS, et al. 1996. Receptor specificity of the fibroblast growth factor family. J Biol Chem 271: 15292-15297.
    • (1996) J Biol Chem , vol.271 , pp. 15292-15297
    • Ornitz, D.M.1    Xu, J.2    Colvin, J.S.3
  • 26
    • 0027199056 scopus 로고
    • Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2)
    • Orr-Urtreger A, Bedford MT, Burakova T, et al. 1993. Developmental localization of the splicing alternatives of fibroblast growth factor receptor-2 (FGFR2). Dev Biol 158: 475-486.
    • (1993) Dev Biol , vol.158 , pp. 475-486
    • Orr-Urtreger, A.1    Bedford, M.T.2    Burakova, T.3
  • 27
    • 0029059280 scopus 로고
    • Analysis of phenotypic features and FGFR2 mutations in Apert syndrome
    • Park WJ, Theda C, Maestri NE, et al. 1995. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 57: 321-328.
    • (1995) Am J Hum Genet , vol.57 , pp. 321-328
    • Park, W.J.1    Theda, C.2    Maestri, N.E.3
  • 28
    • 0034601248 scopus 로고    scopus 로고
    • Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature
    • Roscioli T, Flanagan S, Kumar P, et al. 2000. Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. Am J Med Genet 93: 22-28.
    • (2000) Am J Med Genet , vol.93 , pp. 22-28
    • Roscioli, T.1    Flanagan, S.2    Kumar, P.3
  • 29
    • 0017328746 scopus 로고
    • The pathogenesis of premature craniosynostosis in acrocephalosyndactyly (Apert's syndrome). A reconsideration
    • Stewart RE, Dixon G, Cohen A. 1977. The pathogenesis of premature craniosynostosis in acrocephalosyndactyly (Apert's syndrome). A reconsideration. Plast Reconstr Surg 59: 699-707.
    • (1977) Plast Reconstr Surg , vol.59 , pp. 699-707
    • Stewart, R.E.1    Dixon, G.2    Cohen, A.3
  • 30
    • 0029927959 scopus 로고    scopus 로고
    • Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes
    • Tokumaru AM, Barkovich AJ, Ciricillo SF, Edwards MS. 1996. Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes. AJNR Am J Neuroradiol 17: 619-630.
    • (1996) AJNR Am J Neuroradiol , vol.17 , pp. 619-630
    • Tokumaru, A.M.1    Barkovich, A.J.2    Ciricillo, S.F.3    Edwards, M.S.4
  • 31
    • 24344453489 scopus 로고    scopus 로고
    • Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse
    • Wang Y, Xiao R, Yang F, et al. 2005. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development 132: 3537-3548.
    • (2005) Development , vol.132 , pp. 3537-3548
    • Wang, Y.1    Xiao, R.2    Yang, F.3
  • 32
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie AO, Slaney SF, Oldridge M, et al. 1995. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9: 165-172.
    • (1995) Nat Genet , vol.9 , pp. 165-172
    • Wilkie, A.O.1    Slaney, S.F.2    Oldridge, M.3
  • 33
    • 0026607170 scopus 로고
    • A confined variable region confers ligand specificity on fibroblast growth factor receptors: implications for the origin of the immunoglobulin fold
    • Yayon A, Zimmer Y, Shen GH, et al. 1992. A confined variable region confers ligand specificity on fibroblast growth factor receptors: implications for the origin of the immunoglobulin fold. EMBO J 11: 1885-1890.
    • (1992) EMBO J , vol.11 , pp. 1885-1890
    • Yayon, A.1    Zimmer, Y.2    Shen, G.H.3
  • 34
    • 0034641606 scopus 로고    scopus 로고
    • A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures
    • Zhou YX, Xu X, Chen L, et al. 2000. A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Hum Mol Genet 9: 2001-2008.
    • (2000) Hum Mol Genet , vol.9 , pp. 2001-2008
    • Zhou, Y.X.1    Xu, X.2    Chen, L.3
  • 35
    • 0030896927 scopus 로고    scopus 로고
    • The role of the cranial base in facial growth: experimental craniofacial synostosis in the rabbit
    • Rosenberg P, Arlis HR, Haworth RD, Heier L, Hoffman L, LaTrenta G. 1997. The role of the cranial base in facial growth: experimental craniofacial synostosis in the rabbit. Plast Reconstr Surg 99: 1396-1407.
    • (1997) Plast Reconstr Surg , vol.99 , pp. 1396-1407
    • Rosenberg, P.1    Arlis, H.R.2    Haworth, R.D.3    Heier, L.4    Hoffman, L.5    LaTrenta, G.6
  • 36
    • 0035957343 scopus 로고    scopus 로고
    • A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes
    • Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C. 2001. A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes. Proc Natl Acad Sci U S A 98: 3855-3860.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 3855-3860
    • Hajihosseini, M.K.1    Wilson, S.2    De Moerlooze, L.3    Dickson, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.