SEARCH

SEARCH BY CITATION

References

  • 1
    Erlebacher A, Filvaroff EH, Gitelman SE, Derynck R 1995 Toward a molecular understanding of skeletal development Cell 80: 371378.
  • 2
    Kingsley DM 1994 The TGF-β superfamily: New members, new receptors, and new genetic tests of function in different organisms Genes Dev 8: 133146.
  • 3
    Massagué J, Attisano L, Wrana JL 1994 The TGF-β family and its composite receptors Trends Cell Biol 4: 173178.
  • 4
    Centrella M, Horowitz MC, Wozney JM, McCarthy TL 1994 Transforming growth factor-β gene family members and bone Endocrine Rev 15: 2739.
  • 5
    Centrella M, Wozney JM, Horowitz MC, McCarthy TL 1994 Cross-talk among bone cells by way of local growth factors. In: DavidovitchZ (ed.) The Biological Mechanisms of Tooth Eruption, Resorption and Replacement by Implants. Harvard Society for the Advancement of Orthodontics, Boston, MA, U.S.A., pp. 3543.
  • 6
    Opperman LA, Nolen AA, Ogle RC 1997 TGF-β1, TGF-β2, and TGF-β3 exhibit distinct patterns of expression during cranial suture formation and obliteration in vivo and in vitro J Bone Miner Res 12: 301310.
  • 7
    Roth DA, Longaker MT, McCarthy JG, Rosen DM, McMullen HF, Levine JP, Sung J, Gold LI 1997 Studies in cranial suture biology: Part I. Increased immunoreactivity for TGF-β isoforms (β1, β2, & β3) during rat cranial suture fusion J Bone Miner Res 12: 311321.
  • 8
    Levine JP, Bradley JP, Roth DA, McCarthy JG, Longaker MT 1995 Studies in cranial suture biology: Regional dura mater determines overlying suture biology Plast Surg Forum 18: 319321.
  • 9
    Roth DA, Bradley JP, Levine JP, McMullen HF, McCarthy JG, Longaker MT 1996 Studies in cranial suture biology II. Role of the dura in cranial suture fusion Plast Reconstr Surg 97: 693699.
  • 10
    Opperman LA, Sweeney TM, Redmon J, Persing JA, Ogle RC 1993 Tissue interactions with underlying dura mater inhibit osseous obliteration of developing cranial sutures Dev Dynamics 198: 312322.
  • 11
    Cohen MM Jr 1993 Sutural biology and the correlates of craniosynostosis Am J Med Genet 47: 581616.
  • 12
    Iseki S, Wilkie AOM, Morriss-Kay GM 1996 Expression of the Fgfr2 gene during mouse limb and skull development J Anat 188: 223224.
  • 13
    Cohen MM Jr( 1997 Molecular biology of craniosynostosis with special emphasis on fibroblast growth factor receptors. In: JrCohenMM, BaumBJ (eds.) Studies in Stomatology and Craniofacial Biology. IOS Press, Amsterdam, The Netherlands.
  • 14
    Cohen MM Jr 1997 Short limb skeletal dysplasias and craniosynostoses: What do they have in common? Pediatr Radiol (in press).
  • 15
    Thomas JT, Lin K, Nandedkar M, Camargo M, Cervenka J, Luyten FP 1996 A human chondrodysplasia due to a mutation in a TGF-β superfamily member Nat Genet 12: 315317.
  • 16
    Miroue M, Rosenberg L 1975 The human facial sutures: A morphologic and histologic study of age changes from 20 to 95 years. MS thesis, University of Washington, Seattle.
  • 17
    Kokich VG 1974 A morphologic and histologic study of the age changes in the human frontozygomatic suture from 20 to 95 years. MS thesis, University of Washington.
  • 18
    Todd TW, Lyon DW 1924 Endocranial suture closure: Part I. Adult males of white stock Am J Phys Anthropol 7: 325384.
  • 19
    Todd TW, Lyon DW 1925 Cranial suture closure: Its progress and age relationship. Part II. Ectocranial closure in adult males of white stock Am J Phys Anthropol 8: 2345.
  • 20
    Caffey J 1961 Pediatric X-ray Diagnosis, 4th Ed. Year Book Medical Publishers, Inc., Chicago, IL, U.S.A.
  • 21
    Givol D, Yayon A 1992 Complexity of FGF receptors: Genetic basis for structural diversity and functional specificity FASEB J 6: 33623369.
  • 22
    Johnson DE, Williams LT 1993 Structural and functional diversity in the FGF receptor multigene family Adv Cancer Res 60: 141.
  • 23
    Mason IJ 1994 The ins and outs of fibroblast growth factors Cell 78: 547552.
  • 24
    Spivak-Kroizman, Lemmon MA, Dikic I, Ladbury JE, Pinchasi D, Huang J, Jaye M 1994 Heparin-induced oligomerization of FGF molecule is responsible for FGF receptor dimerization activation and cell proliferation Cell 79: 10151024.
  • 25
    Miki T, Bottaro DP, Fleming TP, Smith CL, Burgess WH, Chan AM-L, Aaronson SA 1992 Determination of ligand-binding specificity by alternative splicing: Two distinct growth factor receptors encoded by a single gene Biochem 89: 246250.
  • 26
    Dionne CA, Crumley G, Bellot F, Kaplow JM, Searfoss G, Ruta M, Burgess WH, Jaye M, Schlessinger J 1990 Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors EMBO J 9: 26852692.
  • 27
    Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W 1995 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome Nat Genet 9: 165172.
  • 28
    Houssaint E, Blanquet PR, Champion-Arnaud P, Gesnel MC, Torriglia A, Courtois Y, Breathnach R 1990 Related fibroblast growth factor receptor genes exist in the human genome Proc Natl Acad Sci USA 87: 81808184.
  • 29
    Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome Nat Genet 8: 98103.
  • 30
    Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM 1995 Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes Nat Genet 9: 173176.
  • 31
    Park W-J, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW 1995 Analysis of phenotypic features and FGFR2 mutations in Apert syndrome Am J Hum Genet 57: 321328.
  • 32
    Slaney SF, Oldridge M, Hurst JA, Morris-Kay GM, Hall CM, Poole MD, Wilkie AOM 1996 Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome Am J Hum Genet 58: 923932.
  • 33
    Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SRF, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AOM 1997 Genotype-phenotype correlations for nucleotide substitutions in the IgII-IgIII linker of FGFR2 Hum Mol Genet 6: 137143.
  • 33a
    Wi Ma H, Lajeunie E, Le Merrer M, de Parseval N, Serville F, Weissenbach J, Munnich A, Renier D 1995 No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis Hum Genet 96: 731735.
  • 33b
    Steinberger D, Mulliken JB, Müller U 1996 Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene Hum Mutation 8: 386390.
  • 33c
    Pulleyn LJ, Reardon W, Wilkes D, Rutland P, Jones BM, Hayward R, Hall CM, Brueton L, Chun N, Lammer E, Malcolm S, Winter RM 1996 Spectrum of cranio-synostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus Eur J Hum Genet 4: 283291.
  • 34
    Preston RA, Post JC, Keats BJB, Aston CE, Ferrell RE, Preist J, Nouri N, Losken HW, Morris CA, Hurtt MR, Mulvihill JJ, Ehrlich GD 1994 A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10 Nat Genet 7: 149153.
  • 35
    Li X, Lewanda AF, Eluma F, Jerald H, Choi H, Alozie I, Proukakis C, Talbot CC Jr, Kolk CV, Jones M, Cunningham M, Clarren SK, Pyeritz R, Weissenbach J, Jackson CE, Jabs EW 1994 Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23–q26 Genomics 22: 418424.
  • 36
    Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, Carnas LR, Jackson CE, Jaye M 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 Nat Genet 8: 275279.
  • 37
    Park W-J, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW 1995 Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability Hum Mol Genet 4: 12291233.
  • 38
    Malcolm S, Reardon W 1995 Fibroblast growth factor receptor 2 and craniosynostosis: The molecular and clinical picture. International Genetic Workshop on Crouzon and Other Craniofacial Disorders, Pittsburgh, PA, U.S.A., March 10–11.
  • 39
    Gorry MC, Preston RA, White GJ, Zhang Y, Singhal VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD 1995 Crouzon syndrome: Mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome Hum Mol Genet 4: 13871390.
  • 40
    Oldridge M, Wilkie AOM, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJC, Goldin JH, Winter RM, Reardon W, Malcolm S 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome Hum Mol Genet 4: 10771082.
  • 41
    Steinberger D, Mulliken JB, Müller U 1995 Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome Hum Genet 96: 113115.
  • 42
    Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing Am J Hum Genet 58: 491498.
  • 43
    Jabs EW 1995 Correction: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 Nat Genet 9: 451.
  • 44
    Mulvihill JJ 1995 Craniofacial syndromes: No such thing as a single gene disease Nat Genet 9: 101103.
  • 45
    Li X, Park W-J, Pyeritz RE, Jabs EW 1995 Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome Nat Genet 9: 232233.
  • 46
    Robin NH, Feldman GJ, Mitchell HF, Lorenz P, Wilroy RS, Zackai EH, Allanson JE, Reich EW, Pfeiffer RA, Clarke LA, Warman ML, Mulliken JB, Brueton LA, Winter RM, Price RA, Gasser DL, Muenke M 1994 Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity Hum Mol Genet 3: 21532158.
  • 47
    Muenke M, Schell T, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM 1994 A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome Nat Genet 8: 269273.
  • 48
    Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr, Muenke M 1995 Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome Hum Mol Genet 4: 323328.
  • 49
    Lajeunie E, Wei Ma H, Bonaventure J, Munnich A, Le Merrer M, Renier D 1995 FGFR2 mutations in Pfeiffer syndrome Nat Genet 9: 108.
  • 50
    Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC 1996 Mutation detection in FGFR2 craniosynostosis syndromes—Recurrent mutations and a novel-splice site mutation Am J Hum Genet 59 (Suppl): Abstract.
  • 51
    Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow SJ, Cohen MM Jr, Jabs EW 1996 Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome Nat Genet 13: 492494.
  • 52
    Tavormina PL, Shiang R, Thompson LM, Zhu Y-Z, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ 1995 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 Nat Genet 9: 321328.
  • 53
    Tavormina PL, Rimoin DL, Cohn DH, Zhu Y-Z, Shiang R, Wasmuth JJ 1995 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I Hum Mol Genet 4: 21752177.
  • 54
    Rousseau F, El Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet 5: 509512.
  • 55
    Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide A-L, Maroteaux P, Bonaventure J, Narcy F, Sanak M 1995 Stop codon FGFR3 mutations in thanatophoric dwarfism type 1 Nat Genet 10: 1112.
  • 56
    Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW 1995 Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans Nat Genet 11: 462464.
  • 57
    Müller U, Warman ML, Mulliken JB, Weber JL 1993 Assignment of a gene locus involved in craniosynostosis to chromosome 5qter Hum Mol Genet 2: 119122.
  • 58
    Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead ML, Maxson R 1993 A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis Cell 75: 443450.
  • 59
    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: 174176.
  • 60
    Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken W, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH 1997 A unique point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene defines a new craniosynostosis syndrome. Am J Hum Genet (in press).
  • 61
    Brueton LA, van Herwerden L, Chotai KA, Winter RM 1992 The mapping of a gene for craniosynostosis: Evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p J Med Genet 29: 681685.
  • 62
    Reardon W, McManus SP, Summers D, Winter RM 1993 Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2 Am J Med Genet 47: 633636.
  • 63
    Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM Jr, Jabs EW 1993 Saethre-Chotzen syndrome with familial translocation at chromosome 7p22 Am J Med Genet 47: 637639.
  • 64
    Lewanda AF, Cohen MM Jr, Jackson CE, Taylor EW, Li X, Beloff M, Day D, Clarren SK, Ortiz R, Garcia C, Hauselman E, Figueroa A, Wulfsberg E, Wilson M, Warman ML, Padwa BL, Whiteman DAH, Mulliken JB, Jabs EW 1994 Genetic heterogeneity among craniosynostosis syndromes: Mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p Genomics 19: 115119.
  • 65
    van Herwerden L, Rose CSP, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM 1994 Evidence for locus heterogeneity in acrocephalosyndactyly: A refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q Am J Hum Genet 84: 669674.
  • 66
    Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, De Luna Ortiz RI, Delgado CG, Gonzalez-Ramos M, Jabs EW 1997 Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome Nat Genet 15: 3641.
  • 67
    El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin A-L, Munnich A, Bonaventure J 1997 Mutations of the TWIST gene in Saethre-Chotzen syndrome Nat Genet 15: 4246.
  • 68
    Vortkamp A, Gessler M, Grzeschik KH 1991 GLI3 zinc finger interrupted by translocations in Greig syndrome families Nature 352: 539540.
  • 69
    Bellus GA, Hefferon TW, de Luna Ortiz RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3 Am J Hum Genet 56: 368373.
  • 70
    Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA 1995 A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia Nat Genet 10: 357359.
  • 71
    Muenke M, Schell U 1995 Fibroblast-growth-factor receptor mutations in human skeletal disorders Trends Genet 11: 303313.
  • 72
    Wilkie AOM, Morriss-Kay GM, Jones EY, Heath JK 1995 Functions of fibroblast growth factors and their receptors Curr Biol 5: 500507.
  • 73
    Liu YH, Kundu R, Wu L, Luo W, Ignelzi MA Jr, Snead ML, Maxson RE Jr 1995 Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull Proc Natl Acad Sci USA 92: 61376141.
  • 74
    Carlton M, Evans M 1995 A Crouzon-like craniofacial dysmorphology in the mouse is caused by insertional mutation in the FGF4 region Genet Res 65: 234.
  • 75
    Kingsley DM, Bland AE, Grubber JM, Marker PC, Russell LB, Copeland NG, Jenkins NA 1992 The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGFβ superfamily Cell 71: 399410.
  • 76
    Storm EE, Huynh TV, Copeland NG, Jenkins NA, Kingsley DM, Lee SJ 1994 Limb altercations in brachypodism mice due to mutations in a new member of the TGFβ superfamily Nature 368: 639643.