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Volumn 68, Issue 2, 1999, Pages 139-151

Craniosynostosis syndromes: From genes to premature fusion of skull bones

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; CONGENITAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; PRIORITY JOURNAL; SHORT SURVEY; SYNDROME;

EID: 0032737329     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2915     Document Type: Article
Times cited : (77)

References (114)
  • 2
    • 0030769180 scopus 로고    scopus 로고
    • Craniosynostosis: Genes and mechanisms
    • Wilkie A O. Craniosynostosis: genes and mechanisms. Hum Mol Genet. 6:1997;1647-1656.
    • (1997) Hum Mol Genet , vol.6 , pp. 1647-1656
    • Wilkie, A.O.1
  • 5
    • 0027410053 scopus 로고
    • Assignment of a gene locus involved in craniosynostosis to chromosome 5qter
    • Müller U, Warman M L, Mulliken J B, Weber J L. Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum Mol Genet. 2:1993;119-122.
    • (1993) Hum Mol Genet , vol.2 , pp. 119-122
    • Müller, U.1    Warman, M.L.2    Mulliken, J.B.3    Weber, J.L.4
  • 6
    • 0027263856 scopus 로고
    • Newly recognized autosomal dominant disorder with craniosynostosis
    • Warman M L, Mulliken J B, Hayward P G, Müller U. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet. 46:1993;444-449.
    • (1993) Am J Med Genet , vol.46 , pp. 444-449
    • Warman, M.L.1    Mulliken, J.B.2    Hayward, P.G.3    Müller, U.4
  • 8
    • 85030361650 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), World Wide Web URL
    • Online Mendelian Inheritance in Man, OMIM (TM). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 1999. World Wide Web URL, http://www.ncbi.nlm.nih.gov/omim/.
    • (1999)
  • 9
    • 0016722568 scopus 로고
    • An etiologic and nosologic overview of craniosynostosis syndromes
    • Cohen M M Jr. An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects Orig Artic Ser. 11:1975;137-189.
    • (1975) Birth Defects Orig Artic Ser , vol.11 , pp. 137-189
    • Cohen M.M., Jr.1
  • 10
    • 0018577709 scopus 로고
    • Craniosynostosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating
    • Cohen M M Jr. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects Orig Artic Ser. 15:1979;13-63.
    • (1979) Birth Defects Orig Artic Ser , vol.15 , pp. 13-63
    • Cohen M.M., Jr.1
  • 14
    • 0000008683 scopus 로고
    • Dominant erbliche Akrocephalosyndaktylie
    • Pfeiffer R A. Dominant erbliche Akrocephalosyndaktylie. Z Kinderheilkunde. 90:1964;301-320.
    • (1964) Z Kinderheilkunde , vol.90 , pp. 301-320
    • Pfeiffer, R.A.1
  • 15
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
    • Cohen M M Jr. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet. 45:1993;300-307.
    • (1993) Am J Med Genet , vol.45 , pp. 300-307
    • Cohen M.M., Jr.1
  • 23
    • 0030609942 scopus 로고    scopus 로고
    • Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome
    • Tartaglia M, Valeri S, Velardi F, Di Rocco C, Battaglia P A. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Hum Genet. 99:1997;602-606.
    • (1997) Hum Genet , vol.99 , pp. 602-606
    • Tartaglia, M.1    Valeri, S.2    Velardi, F.3    Di Rocco, C.4    Battaglia, P.A.5
  • 25
    • 0032559318 scopus 로고    scopus 로고
    • Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case
    • Schaefer F, Anderson C, Can B, Say B. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet. 75:1998;252-255.
    • (1998) Am J Med Genet , vol.75 , pp. 252-255
    • Schaefer, F.1    Anderson, C.2    Can, B.3    Say, B.4
  • 27
    • 0032992570 scopus 로고    scopus 로고
    • Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
    • Cornejo-Roldan L R, Roessler E, Muenke M. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet. 104:1999;425-431.
    • (1999) Hum Genet , vol.104 , pp. 425-431
    • Cornejo-Roldan, L.R.1    Roessler, E.2    Muenke, M.3
  • 34
    • 0029004086 scopus 로고
    • Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
    • Park W J, Meyers G A, Li X, Theda C, Day D, Orlow S J, Jones M C, Jabs E W. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet. 4:1995;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
  • 36
    • 0029801057 scopus 로고    scopus 로고
    • Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene
    • Steinberger D, Mulliken J B, Müller U. Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. Hum Mutat. 8:1996;386-390.
    • (1996) Hum Mutat , vol.8 , pp. 386-390
    • Steinberger, D.1    Mulliken, J.B.2    Müller, U.3
  • 37
    • 0030976827 scopus 로고    scopus 로고
    • A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly
    • Steinberger D, Collmann H, Schmalenberger B, Müller U. A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. J Med Genet. 34:1997;420-422.
    • (1997) J Med Genet , vol.34 , pp. 420-422
    • Steinberger, D.1    Collmann, H.2    Schmalenberger, B.3    Müller, U.4
  • 39
    • 0031896814 scopus 로고    scopus 로고
    • The mutations in FGFR2-associated craniosynostosis are clustered in five structural elements of immunoglobulin-like domain III of the receptor
    • Steinberger D, Vriend G, Mulliken J B, Müller U. The mutations in FGFR2-associated craniosynostosis are clustered in five structural elements of immunoglobulin-like domain III of the receptor. Hum Genet. 102:1998;145-150.
    • (1998) Hum Genet , vol.102 , pp. 145-150
    • Steinberger, D.1    Vriend, G.2    Mulliken, J.B.3    Müller, U.4
  • 40
    • 0031750399 scopus 로고    scopus 로고
    • Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
    • Passos-Bueno M R, Sertie A L, Richieri-Costa A, Alonso L G, Zatz M, Alonso N, Brunoni D, Ribeiro S F. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Am J Med Genet. 78:1998;237-241.
    • (1998) Am J Med Genet , vol.78 , pp. 237-241
    • Passos-Bueno, M.R.1    Sertie, A.L.2    Richieri-Costa, A.3    Alonso, L.G.4    Zatz, M.5    Alonso, N.6    Brunoni, D.7    Ribeiro, S.F.8
  • 41
    • 84886621421 scopus 로고
    • Craniosynostosis, midfacial hypoplasia and foot abnormalities: An autosomal dominant phenotype in a large Amish kindred
    • Jackson C E, Weiss L, Reynolds W A, Forman T F, Peterson J A. Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred. J Pediatr. 88:1976;963-968.
    • (1976) J Pediatr , vol.88 , pp. 963-968
    • Jackson, C.E.1    Weiss, L.2    Reynolds, W.A.3    Forman, T.F.4    Peterson, J.A.5
  • 42
    • 0031468344 scopus 로고    scopus 로고
    • Jackson-Weiss syndrome: Identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
    • Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velardi F, Battaglia P A. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet. 101:1997;47-50.
    • (1997) Hum Genet , vol.101 , pp. 47-50
    • Tartaglia, M.1    Di Rocco, C.2    Lajeunie, E.3    Valeri, S.4    Velardi, F.5    Battaglia, P.A.6
  • 43
    • 0029798614 scopus 로고    scopus 로고
    • Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
    • Bellus G A, Gaudenz K, Zackai E H, Clarke L A, Szabo J, Francomano C A, Muenke M. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet. 14:1996;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
  • 46
    • 0031754836 scopus 로고    scopus 로고
    • Nonpenetrance in FGFR3-associated coronal synostosis syndrome
    • Robin N H, Scott J A, Cohen A R, Goldstein J A. Nonpenetrance in FGFR3-associated coronal synostosis syndrome. Am J Med Genet. 80:1998;296-297.
    • (1998) Am J Med Genet , vol.80 , pp. 296-297
    • Robin, N.H.1    Scott, J.A.2    Cohen, A.R.3    Goldstein, J.A.4
  • 47
    • 0032961402 scopus 로고    scopus 로고
    • Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation
    • Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. J Med Genet. 36:1999;9-13.
    • (1999) J Med Genet , vol.36 , pp. 9-13
    • Lajeunie, E.1    El Ghouzzi, V.2    Le Merrer, M.3    Munnich, A.4    Bonaventure, J.5    Renier, D.6
  • 48
    • 0014499309 scopus 로고
    • Cutis gyratum, acanthosis nigricans and other congenital anomalies: A new syndrome
    • Beare J M, Dodge J A, Nevin N C. Cutis gyratum, acanthosis nigricans and other congenital anomalies: a new syndrome. Br J Dermatol. 81:1969;241-247.
    • (1969) Br J Dermatol , vol.81 , pp. 241-247
    • Beare, J.M.1    Dodge, J.A.2    Nevin, N.C.3
  • 49
    • 0017979060 scopus 로고
    • Cutis gyratum and acanthosis nigricans associated with other anomalies: A distinctive syndrome
    • Stevenson R E, Ferlauto G J, Taylor H A. Cutis gyratum and acanthosis nigricans associated with other anomalies: a distinctive syndrome. J Pediatr. 92:1978;950-952.
    • (1978) J Pediatr , vol.92 , pp. 950-952
    • Stevenson, R.E.1    Ferlauto, G.J.2    Taylor, H.A.3
  • 51
    • 0027273023 scopus 로고
    • A severe case of Beare-Stevenson syndrome and associated congenital deformities
    • Andrews J M, Martins D M, Ramos R R, Ferreira L M. A severe case of Beare-Stevenson syndrome and associated congenital deformities. Br J Plast Surg. 46:1993;443-446.
    • (1993) Br J Plast Surg , vol.46 , pp. 443-446
    • Andrews, J.M.1    Martins, D.M.2    Ramos, R.R.3    Ferreira, L.M.4
  • 52
    • 0028012639 scopus 로고
    • Congenital craniofacial dysostosis and cutis gyratum: The Beare-Stevenson syndrome
    • Bratanic B, Praprotnik M, Novosel-Sever M. Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome. Eur J Pediatr. 153:1994;184-186.
    • (1994) Eur J Pediatr , vol.153 , pp. 184-186
    • Bratanic, B.1    Praprotnik, M.2    Novosel-Sever, M.3
  • 54
    • 0032054062 scopus 로고    scopus 로고
    • FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome
    • Krepelova A, Baxova A, Calda P, Plavka R, Kapras J. FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome. Am J Med Genet. 76:1998;362-364.
    • (1998) Am J Med Genet , vol.76 , pp. 362-364
    • Krepelova, A.1    Baxova, A.2    Calda, P.3    Plavka, R.4    Kapras, J.5
  • 55
    • 0030916584 scopus 로고    scopus 로고
    • Fibroblast growth factors, their receptors and receptor disorders
    • Gorlin R J. Fibroblast growth factors, their receptors and receptor disorders. J Craniomaxillofac Surg. 25:1997;69-79.
    • (1997) J Craniomaxillofac Surg , vol.25 , pp. 69-79
    • Gorlin, R.J.1
  • 56
    • 0028793472 scopus 로고
    • Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
    • Meyers G A, Orlow S J, Munro I R, Przylepa K A, Jabs E W. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet. 11:1995;462-464.
    • (1995) Nat Genet , vol.11 , pp. 462-464
    • Meyers, G.A.1    Orlow, S.J.2    Munro, I.R.3    Przylepa, K.A.4    Jabs, E.W.5
  • 57
    • 0029780070 scopus 로고    scopus 로고
    • A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans
    • Wilkes D, Rutland P, Pulleyn L J, Reardon W, Moss C, Ellis J P, Winter R M, Malcolm S. A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. J Med Genet. 33:1996;744-748.
    • (1996) J Med Genet , vol.33 , pp. 744-748
    • Wilkes, D.1    Rutland, P.2    Pulleyn, L.J.3    Reardon, W.4    Moss, C.5    Ellis, J.P.6    Winter, R.M.7    Malcolm, S.8
  • 58
    • 0028263955 scopus 로고
    • Saethre-Chotzen syndrome
    • Reardon W, Winter R M. Saethre-Chotzen syndrome. J Med Genet. 31:1994;393-396.
    • (1994) J Med Genet , vol.31 , pp. 393-396
    • Reardon, W.1    Winter, R.M.2
  • 59
    • 0028086295 scopus 로고
    • Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2
    • Rose C S, King A A, Summers D, Palmer R, Yang S, Wilkie A O, Reardon W, Malcolm S, Winter R M. Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum Mol Genet. 3:1994;1405-1408.
    • (1994) Hum Mol Genet , vol.3 , pp. 1405-1408
    • Rose, C.S.1    King, A.A.2    Summers, D.3    Palmer, R.4    Yang, S.5    Wilkie, A.O.6    Reardon, W.7    Malcolm, S.8    Winter, R.M.9
  • 60
    • 0028969485 scopus 로고
    • Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: Three further families
    • Wilkie A O, Yang S P, Summers D, Poole M D, Reardon W, Winter R M. Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet. 32:1995;174-180.
    • (1995) J Med Genet , vol.32 , pp. 174-180
    • Wilkie, A.O.1    Yang, S.P.2    Summers, D.3    Poole, M.D.4    Reardon, W.5    Winter, R.M.6
  • 61
    • 0030753595 scopus 로고    scopus 로고
    • The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
    • Rose C S, Patel P, Reardon W, Malcolm S, Winter R M. The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum Mol Genet. 6:1997;1369-1373.
    • (1997) Hum Mol Genet , vol.6 , pp. 1369-1373
    • Rose, C.S.1    Patel, P.2    Reardon, W.3    Malcolm, S.4    Winter, R.M.5
  • 65
    • 0030982569 scopus 로고    scopus 로고
    • The role of the msh homeobox gene during Drosophila neurogenesis: Implication for the dorsoventral specification of the neuroectoderm
    • Isshiki T, Takeichi M, Nose A. The role of the msh homeobox gene during Drosophila neurogenesis: implication for the dorsoventral specification of the neuroectoderm. Development. 124:1997;3099-3109.
    • (1997) Development , vol.124 , pp. 3099-3109
    • Isshiki, T.1    Takeichi, M.2    Nose, A.3
  • 68
    • 0029177941 scopus 로고
    • Dlx and other homeobox genes in the morphological development of the dentition
    • Weiss K M, Ruddle F H, Bollekens J. Dlx and other homeobox genes in the morphological development of the dentition. Connect Tissue Res. 32:1995;35-40.
    • (1995) Connect Tissue Res , vol.32 , pp. 35-40
    • Weiss, K.M.1    Ruddle, F.H.2    Bollekens, J.3
  • 69
    • 0030899176 scopus 로고    scopus 로고
    • Disruption of Msx-1 and Msx-2 reveals roles for these genes in craniofacial, eye, and axial development
    • Foerst-Potts L, Sadler T W. Disruption of Msx-1 and Msx-2 reveals roles for these genes in craniofacial, eye, and axial development. Dev Dyn. 209:1997;70-84.
    • (1997) Dev Dyn , vol.209 , pp. 70-84
    • Foerst-Potts, L.1    Sadler, T.W.2
  • 70
    • 0031922720 scopus 로고    scopus 로고
    • FGF-, BMP- and Shh-mediated signalling pathways in the regulation of cranial suture morphogenesis and calvarial bone development
    • Kim H J, Rice D P, Kettunen P J, Thesleff I. FGF-, BMP- and Shh-mediated signalling pathways in the regulation of cranial suture morphogenesis and calvarial bone development. Development. 125:1998;1241-1251.
    • (1998) Development , vol.125 , pp. 1241-1251
    • Kim, H.J.1    Rice, D.P.2    Kettunen, P.J.3    Thesleff, I.4
  • 71
    • 0029800845 scopus 로고    scopus 로고
    • The molecular basis of Boston-type craniosynostosis: The Pro148 → His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences
    • Ma L, Golden S, Wu L, Maxson R. The molecular basis of Boston-type craniosynostosis: the Pro148 → His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum Mol Genet. 5:1996;1915-1920.
    • (1996) Hum Mol Genet , vol.5 , pp. 1915-1920
    • Ma, L.1    Golden, S.2    Wu, L.3    Maxson, R.4
  • 72
    • 0030779871 scopus 로고    scopus 로고
    • Structure-function analysis of Msx2-mediated transcriptional suppression
    • Newberry E P, Latifi T, Battaile J T, Towler D A. Structure-function analysis of Msx2-mediated transcriptional suppression. Biochemistry. 36:1997;10451-11062.
    • (1997) Biochemistry , vol.36 , pp. 10451-11062
    • Newberry, E.P.1    Latifi, T.2    Battaile, J.T.3    Towler, D.A.4
  • 74
    • 0031923701 scopus 로고    scopus 로고
    • Conserved use of a non-canonical 5′ splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3
    • Twigg S R, Burns H D, Oldridge M, Heath J K, Wilkie A O. Conserved use of a non-canonical 5′ splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3. Hum Mol Genet. 7:1998;685-691.
    • (1998) Hum Mol Genet , vol.7 , pp. 685-691
    • Twigg, S.R.1    Burns, H.D.2    Oldridge, M.3    Heath, J.K.4    Wilkie, A.O.5
  • 75
    • 0030438565 scopus 로고    scopus 로고
    • Functions of fibroblast growth factors in vertebrate development
    • Goldfarb M. Functions of fibroblast growth factors in vertebrate development. Cytokine Growth Factor Rev. 7:1996;311-325.
    • (1996) Cytokine Growth Factor Rev , vol.7 , pp. 311-325
    • Goldfarb, M.1
  • 77
    • 0028872649 scopus 로고
    • Specificity of receptor tyrosine kinase signaling: Transient versus sustained extracellular signal-regulated kinase activation
    • Marshall C J. Specificity of receptor tyrosine kinase signaling: transient versus sustained extracellular signal-regulated kinase activation. Cell. 80:1995;179-185.
    • (1995) Cell , vol.80 , pp. 179-185
    • Marshall, C.J.1
  • 78
    • 0033556802 scopus 로고    scopus 로고
    • Signal transduction by fibroblast growth factor receptors
    • Klint P, Claesson-Welsh L. Signal transduction by fibroblast growth factor receptors. Front Biosci. 4:1999;165-177.
    • (1999) Front Biosci , vol.4 , pp. 165-177
    • Klint, P.1    Claesson-Welsh, L.2
  • 79
    • 0026570852 scopus 로고
    • Two FGF receptor genes are differentially expressed in epithelial and mesenchymal tissues during limb formation and organogenesis in the mouse
    • Peters K G, Werner S, Chen G, Williams L T. Two FGF receptor genes are differentially expressed in epithelial and mesenchymal tissues during limb formation and organogenesis in the mouse. Development. 114:1992;233-243.
    • (1992) Development , vol.114 , pp. 233-243
    • Peters, K.G.1    Werner, S.2    Chen, G.3    Williams, L.T.4
  • 81
    • 0031149883 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development
    • Deng C, Bedford M, Li C, Xu X, Yang X, Dunmore J, Leder P. Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. Dev Biol. 185:1997;42-54.
    • (1997) Dev Biol , vol.185 , pp. 42-54
    • Deng, C.1    Bedford, M.2    Li, C.3    Xu, X.4    Yang, X.5    Dunmore, J.6    Leder, P.7
  • 82
    • 0030743776 scopus 로고    scopus 로고
    • Chimeric analysis of fibroblast growth factor receptor-1 (Fgfr1) function: A role for FGFR1 in morphogenetic movement through the primitive streak
    • Ciruna B G, Schwartz L, Harpal K, Yamaguchi T P, Rossant J. Chimeric analysis of fibroblast growth factor receptor-1 (Fgfr1) function: a role for FGFR1 in morphogenetic movement through the primitive streak. Development. 124:1997;2829-2841.
    • (1997) Development , vol.124 , pp. 2829-2841
    • Ciruna, B.G.1    Schwartz, L.2    Harpal, K.3    Yamaguchi, T.P.4    Rossant, J.5
  • 84
    • 0032559318 scopus 로고    scopus 로고
    • Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case
    • Schaefer F, Anderson C, Can B, Say B. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case. Am J Med Genet. 75:1998;252-255.
    • (1998) Am J Med Genet , vol.75 , pp. 252-255
    • Schaefer, F.1    Anderson, C.2    Can, B.3    Say, B.4
  • 87
    • 0029269385 scopus 로고
    • Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome
    • Li X, Park W J, Pyeritz R E, Jabs E W. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nat Genet. 9:1995;232-233.
    • (1995) Nat Genet , vol.9 , pp. 232-233
    • Li, X.1    Park, W.J.2    Pyeritz, R.E.3    Jabs, E.W.4
  • 88
    • 0028582035 scopus 로고
    • Fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation
    • Yamaguchi T P, Harpal K, Henkemeyer M, Rossant J. fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation. Genes Dev. 8:1994;3032-3044.
    • (1994) Genes Dev , vol.8 , pp. 3032-3044
    • Yamaguchi, T.P.1    Harpal, K.2    Henkemeyer, M.3    Rossant, J.4
  • 90
    • 0032574824 scopus 로고    scopus 로고
    • Targeted disruption of fibroblast growth factor (FGF) receptor 2 suggests a role for FGF signaling in pregastrulation mammalian development
    • Arman E, Haffner-Krausz R, Chen Y, Heath J K, Lonai P. Targeted disruption of fibroblast growth factor (FGF) receptor 2 suggests a role for FGF signaling in pregastrulation mammalian development. Proc Natl Acad Sci USA. 95:1998;5082-5087.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 5082-5087
    • Arman, E.1    Haffner-Krausz, R.2    Chen, Y.3    Heath, J.K.4    Lonai, P.5
  • 91
    • 0029917507 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 is a negative regulator of bone growth
    • Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell. 84:1996;911-921.
    • (1996) Cell , vol.84 , pp. 911-921
    • Deng, C.1    Wynshaw-Boris, A.2    Zhou, F.3    Kuo, A.4    Leder, P.5
  • 92
    • 0029928791 scopus 로고    scopus 로고
    • Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
    • Colvin J S, Bohne B A, Harding G W, McEwen D G, Ornitz D M. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet. 12:1996;390-397.
    • (1996) Nat Genet , vol.12 , pp. 390-397
    • Colvin, J.S.1    Bohne, B.A.2    Harding, G.W.3    McEwen, D.G.4    Ornitz, D.M.5
  • 93
    • 0029816813 scopus 로고    scopus 로고
    • Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras
    • Galvin B D, Hart K C, Meyer A N, Webster M K, Donoghue D J. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. Proc Natl Acad Sci USA. 93:1996;7894-7899.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 7894-7899
    • Galvin, B.D.1    Hart, K.C.2    Meyer, A.N.3    Webster, M.K.4    Donoghue, D.J.5
  • 94
    • 0029764116 scopus 로고    scopus 로고
    • Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains
    • Neilson K M, Friesel R. Ligand-independent activation of fibroblast growth factor receptors by point mutations in the extracellular, transmembrane, and kinase domains. J Biol Chem. 271:1996;25049-25057.
    • (1996) J Biol Chem , vol.271 , pp. 25049-25057
    • Neilson, K.M.1    Friesel, R.2
  • 95
    • 0030871359 scopus 로고    scopus 로고
    • Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2
    • Mangasarian K, Li Y, Mansukhani A, Basilico C. Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2. J Cell Physiol. 172:1997;117-125.
    • (1997) J Cell Physiol , vol.172 , pp. 117-125
    • Mangasarian, K.1    Li, Y.2    Mansukhani, A.3    Basilico, C.4
  • 96
    • 0032515975 scopus 로고    scopus 로고
    • Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain
    • Robertson S C, Meyer A N, Hart K C, Galvin B D, Webster M K, Donoghue D J. Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain. Proc Natl Acad Sci USA. 95:1998;4567-4572.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 4567-4572
    • Robertson, S.C.1    Meyer, A.N.2    Hart, K.C.3    Galvin, B.D.4    Webster, M.K.5    Donoghue, D.J.6
  • 97
    • 0031683688 scopus 로고    scopus 로고
    • Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
    • Anderson J, Burns H D, Enriquez-Harris P, Wilkie A OM, Heath J K. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum Mol Genet. 7:1998;1475-1483.
    • (1998) Hum Mol Genet , vol.7 , pp. 1475-1483
    • Anderson, J.1    Burns, H.D.2    Enriquez-Harris, P.3    Wilkie, A.O.4    Heath, J.K.5
  • 98
    • 0028933142 scopus 로고
    • Twist is required in head mesenchyme for cranial neural tube morphogenesis
    • Chen Z F, Behringer R R. twist is required in head mesenchyme for cranial neural tube morphogenesis. Genes Dev. 15:1995;686-699.
    • (1995) Genes Dev , vol.15 , pp. 686-699
    • Chen, Z.F.1    Behringer, R.R.2
  • 100
    • 0031252549 scopus 로고    scopus 로고
    • A TWIST in development
    • Rose C S, Malcolm S. A TWIST in development. Trends Genet. 13:1997;384-387.
    • (1997) Trends Genet , vol.13 , pp. 384-387
    • Rose, C.S.1    Malcolm, S.2
  • 101
    • 0031046540 scopus 로고    scopus 로고
    • Cloning of the human twist gene: Its expression is retained in adult mesodermally-derived tissues
    • Wang S M, Coljee V W, Pignolo R J, Rotenberg M O, Cristofalo V J, Sierra F. Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues. Gene. 187:1997;83-92.
    • (1997) Gene , vol.187 , pp. 83-92
    • Wang, S.M.1    Coljee, V.W.2    Pignolo, R.J.3    Rotenberg, M.O.4    Cristofalo, V.J.5    Sierra, F.6
  • 102
    • 0029890668 scopus 로고    scopus 로고
    • Twist: A myogenic switch in Drosophila
    • Baylies M K, Bate M. twist: a myogenic switch in Drosophila. Science. 272:1996;1481-1484.
    • (1996) Science , vol.272 , pp. 1481-1484
    • Baylies, M.K.1    Bate, M.2
  • 103
    • 0031572280 scopus 로고    scopus 로고
    • Twist protein in mouse embryogenesis
    • Gitelman I. Twist protein in mouse embryogenesis. Dev Biol. 189:1997;205-214.
    • (1997) Dev Biol , vol.189 , pp. 205-214
    • Gitelman, I.1
  • 104
    • 0024042026 scopus 로고
    • Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos
    • Thisse B, Stoetzel C, Gorostiza-Thisse C, Perrin-Schmitt F. Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos. EMBO J. 7:1988;2175-2183.
    • (1988) EMBO J , vol.7 , pp. 2175-2183
    • Thisse, B.1    Stoetzel, C.2    Gorostiza-Thisse, C.3    Perrin-Schmitt, F.4
  • 106
    • 0344350724 scopus 로고    scopus 로고
    • Translocation breakpoints mapped approximately 70-250 kb from the TWIST gene in three patients with Saethre-Chotzen syndrome
    • Patel P, Reardon W, Malcolm S, Winter R M. Translocation breakpoints mapped approximately 70-250 kb from the TWIST gene in three patients with Saethre-Chotzen syndrome. J Med Genet. 35:1998;S78.
    • (1998) J Med Genet , vol.35 , pp. 78
    • Patel, P.1    Reardon, W.2    Malcolm, S.3    Winter, R.M.4
  • 107
    • 0031832127 scopus 로고    scopus 로고
    • The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
    • Bourgeois P, Bolcato-Bellemin AL, Danse J M, Bloch-Zupan A, Yoshiba K, Stoetzel C, Perrin-Schmitt F. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum Mol Genet. 7:1998;945-957.
    • (1998) Hum Mol Genet , vol.7 , pp. 945-957
    • Bourgeois, P.1    Bolcato-Bellemin, A.L.2    Danse, J.M.3    Bloch-Zupan, A.4    Yoshiba, K.5    Stoetzel, C.6    Perrin-Schmitt, F.7
  • 108
    • 0030871330 scopus 로고    scopus 로고
    • Requirements of DFR1/Heartless, a mesoderm-specific Drosophila FGF-receptor, for the formation of heart, visceral and somatic muscles, and ensheathing of longitudinal axon tracts in CNS
    • Shishido E, Ono N, Kojima T, Saigo K. Requirements of DFR1/Heartless, a mesoderm-specific Drosophila FGF-receptor, for the formation of heart, visceral and somatic muscles, and ensheathing of longitudinal axon tracts in CNS. Development. 124:1997;2119-2128.
    • (1997) Development , vol.124 , pp. 2119-2128
    • Shishido, E.1    Ono, N.2    Kojima, T.3    Saigo, K.4
  • 109
    • 0027503639 scopus 로고
    • Two FGF-receptor homologues of Drosophila: One is expressed in mesodermal primordium in early embryos
    • Shishido E, Higashijima S, Emori Y, Saigo K. Two FGF-receptor homologues of Drosophila: one is expressed in mesodermal primordium in early embryos. Development. 117:1993;751-761.
    • (1993) Development , vol.117 , pp. 751-761
    • Shishido, E.1    Higashijima, S.2    Emori, Y.3    Saigo, K.4
  • 110
    • 0028853761 scopus 로고
    • Normal expression and the effects of ectopic expression of the Drosophila muscle segment homeobox (msh) gene suggest a role in differentiation and patterning of embryonic muscles
    • Lord P C, Lin M H, Hales K H, Storti R V. Normal expression and the effects of ectopic expression of the Drosophila muscle segment homeobox (msh) gene suggest a role in differentiation and patterning of embryonic muscles. Dev Biol. 171:1995;627-640.
    • (1995) Dev Biol , vol.171 , pp. 627-640
    • Lord, P.C.1    Lin, M.H.2    Hales, K.H.3    Storti, R.V.4
  • 111
    • 0030219464 scopus 로고    scopus 로고
    • Msh may play a conserved role in dorsoventral patterning of the neuroectoderm and mesoderm
    • D'Alessio M, Frasch M. msh may play a conserved role in dorsoventral patterning of the neuroectoderm and mesoderm. Mech Dev. 58:1996;217-231.
    • (1996) Mech Dev , vol.58 , pp. 217-231
    • D'Alessio, M.1    Frasch, M.2
  • 113
    • 15044348253 scopus 로고    scopus 로고
    • GeneClinics, Copyright © University of Washington, 1998
    • Robin, N, H, Craniosynostosis Syndromes (FGFR-related). GeneClinics, Copyright © 1997-1998 University of Washington, 1998, http://www.geneclinics.org .
    • (1997) Craniosynostosis Syndromes (FGFR-related)
    • Robin, N.H.1
  • 114
    • 0027344852 scopus 로고
    • Structural and functional diversity in the FGF receptor multigene family
    • G. F Van de Woude, & G. Klein. San Diego: Academic Press
    • Johnson D E, Williams L T. Structural and functional diversity in the FGF receptor multigene family. Van de Woude G F, Klein G. Advances in Cancer Research. 1993;Academic Press, San Diego.
    • (1993) Advances in Cancer Research
    • Johnson, D.E.1    Williams, L.T.2


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