Accès gratuit
Numéro
Orthod Fr
Volume 78, Numéro 1, Mars 2007
Rapport de la 79e réunion scientifique de la S.F.O.D.F. – Développement cranio-facial : génétique et expériences naturelles
Page(s) 25 - 37
DOI https://doi.org/10.1051/orthodfr:2007003
Publié en ligne 23 mars 2007
  1. Acampora D, Mazan S, Lallemand Y, Avantaggiato V, Maury M, Simeone A, et al. Forebrain and midbrain regions are deleted in Otx2-/- mutants due to a defective anterior neuroectoderm specification during gastrulation. Development 1995;121(10):3279–3290. [PubMed] [Google Scholar]
  2. Acampora D, Merlo GR, Paleari L, Zerega B, Postiglione MP, Mantero S, et al. Craniofacial, vestibular and bone defects in mice lacking the Distal-less-related gene Dlx5. Development 1999;126(17):3795–3809. [PubMed] [Google Scholar]
  3. Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 1987;110(2):195–200. [CrossRef] [PubMed] [Google Scholar]
  4. Alagille D, Odievre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 1975;86(1):63-71. [CrossRef] [PubMed] [Google Scholar]
  5. Ang SL, Conlon RA, Jin O, Rossant J. Positive and negative signals from mesoderm regulate the expression of mouse Otx2 in ectoderm explants. Development 1994;120(10):2979–2989. [PubMed] [Google Scholar]
  6. Barlow AJ, Francis-West PH. Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia. Development 1997;124(2):391–398. [PubMed] [Google Scholar]
  7. Barni T, Maggi M, Fantoni G, Serio M, Tollaro I, Gloria L, et al. Identification and localization of endothelin-1 and its receptors in human fetal jaws. Dev Biol 1995;169(1):373–377. [CrossRef] [PubMed] [Google Scholar]
  8. Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996;14(3):353–356. [CrossRef] [PubMed] [Google Scholar]
  9. Berk M, Desai SY, Heyman HC, Colmenares C. Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial, patterning, and skeletal muscle development. Genes Dev 1997;11(16):2029–2039. [CrossRef] [PubMed] [Google Scholar]
  10. Bradley RS, Brown AM. A soluble form of Wnt-1 protein with mitogenic activity on mammary epithelial cells. Mol Cell Biol 1995;15(8):4616–4622. [PubMed] [Google Scholar]
  11. Bulfone A, Kim HJ, Puelles L, Porteus MH, Grippo JF, Rubenstein JL. The mouse Dlx-2 (Tes-1) gene is expressed in spatially restricted domains of the forebrain, face and limbs in midgestation mouse embryos. Mech Dev 1993;40(3):129–140. [CrossRef] [PubMed] [Google Scholar]
  12. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 1996;383(6599):407–413. [CrossRef] [PubMed] [Google Scholar]
  13. Christiansen JH, Dennis CL, Wicking CA, Monkley SJ, Wilkinson DG, Wainwright BJ. Murine Wnt-11 and Wnt-12 have temporally and spatially restricted expression patterns during embryonic development. Mech Dev 1995;51(2-3):341–350. [CrossRef] [PubMed] [Google Scholar]
  14. Clouthier DE, Hosoda K, Richardson JA, Williams SC, Yanagisawa H, Kuwaki T, et al. Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 1998;125(5):813–824. [PubMed] [Google Scholar]
  15. Coffin-Collins PA, Hall BK. Chondrogenesis of mandibular mesenchyme from the embryonic chick is inhibited by mandibular epithelium and by epidermal growth factor. Int J Dev Biol 1989;33(2):297–311. [PubMed] [Google Scholar]
  16. Cohen MM Jr., Kreiborg S. A clinical study of the craniofacial features in Apert syndrome. Int J Oral Maxillofac Surg 1996;25(1):45–53. [CrossRef] [PubMed] [Google Scholar]
  17. Cohen SM, Bronner G, Kuttner F, Jurgens G, Jackle H. Distal-less encodes a homoeodomain protein required for limb development in Drosophila. Nature 1989;338(6214):432–434. [CrossRef] [PubMed] [Google Scholar]
  18. Couly GF, Le Douarin NM. Mapping of the early neural primordium in quail-chick chimeras. I. Developmental relationships between placodes, facial ectoderm, and prosencephalon. Dev Biol 1985;110(2):422–439. [CrossRef] [PubMed] [Google Scholar]
  19. Couly GF, Le Douarin NM. Mapping of the early neural primordium in quail-chick chimeras. II. The prosencephalic neural plate and neural folds: implications for the genesis of cephalic human congenital abnormalities. Dev Biol 1987;120(1):198–214. [CrossRef] [PubMed] [Google Scholar]
  20. Currarino G. Normal variants and congenital anomalies in the region of the obelion. Am J Roentgenol 1976;127:487–494. [CrossRef] [Google Scholar]
  21. Dahl E, Koseki H, Balling R. Pax genes and organogenesis. Bioessays 1997;19(9):755–765. [CrossRef] [PubMed] [Google Scholar]
  22. Depew MJ, Lufkin T, Rubenstein JL. Specification of jaw subdivisions by Dlx genes. Science 2002;298(5592):381–385. [CrossRef] [PubMed] [Google Scholar]
  23. Dewulf N, Verschueren K, Lonnoy O, Moren A, Grimsby S, Vande Spiegle K, et al. Distinct spatial and temporal expression patterns of two type I receptors for bone morphogenetic proteins during mouse embryogenesis. Endocrinology 1995;136(6):2652–2663. [CrossRef] [PubMed] [Google Scholar]
  24. Dickinson ME, Krumlauf R, McMahon AP. Evidence for a mitogenic effect of Wnt-1 in the developing mammalian central nervous system. Development 1994;120(6):1453–1471. [PubMed] [Google Scholar]
  25. Dietrich S, Gruss P. undulated phenotypes suggest a role of Pax-1 for the development of vertebral and extravertebral structures. Dev Biol 1995;167(2):529–548. [CrossRef] [PubMed] [Google Scholar]
  26. Dolle P, Price M, Duboule D. Expression of the murine Dlx-1 homeobox gene during facial, ocular and limb development. Differentiation 1992;49(2):93–99. [CrossRef] [PubMed] [Google Scholar]
  27. El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, et al. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 1997;15(1):42–46. [CrossRef] [PubMed] [Google Scholar]
  28. Feijen A, Goumans MJ, van den Eijnden-van Raaij AJ. Expression of activin subunits, activin receptors and follistatin in postimplantation mouse embryos suggests specific developmental functions for different activins. Development 1994;120(12):3621–3637. [PubMed] [Google Scholar]
  29. Fuchtbauer EM. Expression of M-twist during postimplantation development of the mouse. Dev Dyn 1995;204(3):316–322. [CrossRef] [PubMed] [Google Scholar]
  30. Gavin BJ, McMahon JA, McMahon AP. Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development. Genes Dev 1990;4(12B):2319–2332. [CrossRef] [PubMed] [Google Scholar]
  31. Gitelman I. Twist protein in mouse embryogenesis. Dev Biol 1997;189(2):205–214. [CrossRef] [PubMed] [Google Scholar]
  32. Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, et al. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 1996;5(10):1533–1538. [CrossRef] [PubMed] [Google Scholar]
  33. Goodrich LV, Johnson RL, Milenkovic L, McMahon JA, Scott MP. Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog. Genes Dev 1996;10(3):301–312. [CrossRef] [PubMed] [Google Scholar]
  34. Goulding MD, Chalepakis G, Deutsch U, Erselius JR, Gruss P. Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. Embo J 1991;10(5):1135–1147. [PubMed] [Google Scholar]
  35. Grindley JC, Davidson DR, Hill RE. The role of Pax-6 in eye and nasal development. Development 1995;121(5):1433–1442. [PubMed] [Google Scholar]
  36. Hahn H, Christiansen J, Wicking C, Zaphiropoulos PG, Chidambaram A, Gerrard B, et al. A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities. J Biol Chem 1996;271(21):12125–12128. [CrossRef] [PubMed] [Google Scholar]
  37. Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85(6):841–851. [CrossRef] [PubMed] [Google Scholar]
  38. Hammerschmidt M, Brook A, McMahon AP. The world according to hedgehog. Trends Genet 1997;13(1):14–21. [CrossRef] [PubMed] [Google Scholar]
  39. Helms JA, Kim CH, Hu D, Minkoff R, Thaller C, Eichele G. Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev Biol 1997;187(1):25–35. [CrossRef] [PubMed] [Google Scholar]
  40. Henderson DJ, Ybot-Gonzalez P, Copp AJ. Over-expression of the chondroitin sulphate proteoglycan versican is associated with defective neural crest migration in the Pax3 mutant mouse (splotch). Mech Dev 1997;69(1-2):39–51. [CrossRef] [PubMed] [Google Scholar]
  41. Hill RE, Favor J, Hogan BL, Ton CC, Saunders GF, Hanson IM, et al. Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature 1991;354(6354):522–525. [Google Scholar]
  42. Hill RE, Jones PF, Rees AR, Sime CM, Justice MJ, Copeland NG, et al. A new family of mouse homeo box-containing genes: molecular structure, chromosomal location, and developmental expression of Hox-7.1. Genes Dev 1989;3(1):26–37. [Google Scholar]
  43. Hinck L, Nelson WJ, Papkoff J. Wnt-1 modulates cell-cell adhesion in mammalian cells by stabilizing beta-catenin binding to the cell adhesion protein cadherin. J Cell Biol 1994;124(5):729–741. [CrossRef] [PubMed] [Google Scholar]
  44. Hogan BL. Bone morphogenetic proteins: multifunctional regulators of vertebrate development. Genes Dev 1996;10(13):1580–1594. [CrossRef] [PubMed] [Google Scholar]
  45. Hollyday M, McMahon JA, McMahon AP. Wnt expression patterns in chick embryo nervous system. Mech Dev 1995;52(1):9–25. [CrossRef] [PubMed] [Google Scholar]
  46. Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993;52(3):455–462. [PubMed] [Google Scholar]
  47. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 1994;8(3):275–279. [CrossRef] [PubMed] [Google Scholar]
  48. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993;75(3):443–450. [CrossRef] [PubMed] [Google Scholar]
  49. Jiang R, Lan Y, Chapman HD, Shawber C, Norton CR, Serreze DV, et al. Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice. Genes Dev 1998;12(7):1046–1057. [CrossRef] [PubMed] [Google Scholar]
  50. Johnson RL, Tabin CJ. Molecular models for vertebrate limb development. Cell 1997;90(6):979–990. [CrossRef] [PubMed] [Google Scholar]
  51. Jones FS, Kioussi C, Copertino DW, Kallunki P, Holst BD, Edelman GM. Barx2, a new homeobox gene of the Bar class, is expressed in neural and craniofacial structures during development. Proc Natl Acad Sci U S A 1997;94(6):2632–2637. [CrossRef] [PubMed] [Google Scholar]
  52. Jostes B, Walther C, Gruss P. The murine paired box gene, Pax7, is expressed specifically during the development of the nervous and muscular system. Mech Dev 1990;33(1):27–37. [CrossRef] [PubMed] [Google Scholar]
  53. Kaartinen V, Voncken JW, Shuler C, Warburton D, Bu D, Heisterkamp N, et al. Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction. Nat Genet 1995;11(4):415–421. [CrossRef] [PubMed] [Google Scholar]
  54. Kang S, Graham JM JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997;15(3):266–268. [CrossRef] [PubMed] [Google Scholar]
  55. Kaufman MH, Chang HH, Shaw JP. Craniofacial abnormalities in homozygous Small eye (Sey/Sey) embryos and newborn mice. J Anat 1995;186:607–617. [PubMed] [Google Scholar]
  56. Kingsley DM. The TGF-beta superfamily: new members, new receptors, and new genetic tests of function in different organisms. Genes Dev 1994;8(2):133–146. [CrossRef] [PubMed] [Google Scholar]
  57. Kronmiller JE, Upholt WB, Kollar EJ. Expression of epidermal growth factor mRNA in the developing mouse mandibular process. Arch Oral Biol 1991;36(6):405–410. [CrossRef] [PubMed] [Google Scholar]
  58. Krumlauf R. Hox genes in vertebrate development. Cell 1994;78(2):191–201. [CrossRef] [PubMed] [Google Scholar]
  59. Kurihara Y, Kurihara H, Suzuki H, Kodama T, Maemura K, Nagai R, et al. Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 1994;368(6473):703–710. [CrossRef] [PubMed] [Google Scholar]
  60. Lahav R, Ziller C, Dupin E, Le Douarin NM. Endothelin 3 promotes neural crest cell proliferation and mediates a vast increase in melanocyte number in culture. Proc Natl Acad Sci U S A 1996;93(9):3892–3897. [CrossRef] [PubMed] [Google Scholar]
  61. Lee DC, Rochford R, Todaro GJ, Villarreal LP. Developmental expression of rat transforming growth factor-alpha mRNA. Mol Cell Biol 1985;5(12):3644–3646. [PubMed] [Google Scholar]
  62. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997;16(3):243–251. [CrossRef] [PubMed] [Google Scholar]
  63. Liu YH, Kundu R, Wu L, Luo W, Ignelzi MA Jr, Snead ML, et al. Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proc Natl Acad Sci U S A 1995;92(13):6137–6141. [CrossRef] [PubMed] [Google Scholar]
  64. MacKenzie A, Ferguson MW, Sharpe PT. Hox-7 expression during murine craniofacial development. Development 1991;113(2):601–611. [PubMed] [Google Scholar]
  65. Mackenzie A, Leeming GL, Jowett AK, Ferguson MW, Sharpe PT. The homeobox gene Hox 7.1 has specific regional and temporal expression patterns during early murine craniofacial embryogenesis, especially tooth development in vivo and in vitro. Development 1991;111(2):269–285. [PubMed] [Google Scholar]
  66. Maemura K, Kurihara H, Kurihara Y, Oda H, Ishikawa T, Copeland NG, et al. Sequence analysis, chromosomal location, and developmental expression of the mouse preproendothelin-1 gene. Genomics 1996;31(2):177–184. [CrossRef] [PubMed] [Google Scholar]
  67. Mansouri A, Stoykova A, Torres M, Gruss P. Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice. Development 1996;122(3):831–838. [PubMed] [Google Scholar]
  68. Mansouri A, Yokota Y, Wehr R, Copeland NG, Jenkins NA, Gruss P. Paired-related murine homeobox gene expressed in the developing sclerotome, kidney, and nervous system. Dev Dyn 1997;210(1):53–65. [CrossRef] [PubMed] [Google Scholar]
  69. Marti E, Takada R, Bumcrot DA, Sasaki H, McMahon AP. Distribution of Sonic hedgehog peptides in the developing chick and mouse embryo. Development 1995;121(8):2537–2547. [PubMed] [Google Scholar]
  70. Matsui Y, Zsebo KM, Hogan BL. Embryonic expression of a haematopoietic growth factor encoded by the Sl locus and the ligand for c-kit. Nature 1990;347(6294):667–669. [CrossRef] [PubMed] [Google Scholar]
  71. Matsuo T, Osumi-Yamashita N, Noji S, Ohuchi H, Koyama E, Myokai F, et al. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nat Genet 1993;3(4):299–304. [CrossRef] [PubMed] [Google Scholar]
  72. Matzuk MM, Kumar TR, Vassalli A, Bickenbach JR, Roop DR, Jaenisch R, et al. Functional analysis of activins during mammalian development. Nature 1995;374(6520):354–356. [CrossRef] [PubMed] [Google Scholar]
  73. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995;11(4):462–464. [CrossRef] [PubMed] [Google Scholar]
  74. Mina M, Gluhak J, Upholt WB, Kollar EJ, Rogers B. Experimental analysis of Msx-1 and Msx-2 gene expression during chick mandibular morphogenesis. Dev Dyn 1995;202(2):195–214. [CrossRef] [PubMed] [Google Scholar]
  75. Mitsiadis TA, Henrique D, Thesleff I, Lendahl U. Mouse Serrate-1 (Jagged-1): expression in the developing tooth is regulated by epithelial-mesenchymal interactions and fibroblast growth factor-4. Development 1997;124(8):1473–1483. [PubMed] [Google Scholar]
  76. Mo R, Freer AM, Zinyk DL, Crackower MA, Michaud J, Heng HH, et al. Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development 1997;124(1):113–123. [PubMed] [Google Scholar]
  77. Moon RT, DeMarais A, Olson DJ. Responses to Wnt signals in vertebrate embryos may involve changes in cell adhesion and cell movement. J Cell Sci Suppl 1993;17:183–188. [CrossRef] [PubMed] [Google Scholar]
  78. Morell R, Friedman TB, Moeljopawiro S, Hartono, Soewito, Asher JH Jr. A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. Hum Mol Genet 1992;1(4):243–247. [CrossRef] [PubMed] [Google Scholar]
  79. Morrison-Graham K, Schatteman GC, Bork T, Bowen-Pope DF, Weston JA. A PDGF receptor mutation in the mouse (Patch) perturbs the development of a non-neuronal subset of neural crest-derived cells. Development 1992;115(1):133–142. [PubMed] [Google Scholar]
  80. Moses HL, Serra R. Regulation of differentiation by TGF-beta. Curr Opin Genet Dev 1996;6(5):581–586. [CrossRef] [PubMed] [Google Scholar]
  81. Muenke M, Schell U. Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet 1995;11(8):308–313. [CrossRef] [PubMed] [Google Scholar]
  82. Müller U, Warman ML, Mulliken JB, Weber JL. Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum Mol Genet 1993;2(2):119–122. [CrossRef] [PubMed] [Google Scholar]
  83. Nakamura S, Stock DW, Wydner KL, Bollekens JA, Takeshita K, Nagai BM, et al. Genomic analysis of a new mammalian distal-less gene: Dlx7. Genomics. 1996;38(3):314–324. [CrossRef] [PubMed] [Google Scholar]
  84. Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol 1984;28(6):621–642. [CrossRef] [PubMed] [Google Scholar]
  85. Neubuser A, Koseki H, Balling R. Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1. Dev Biol 1995;170(2):701–716. [CrossRef] [PubMed] [Google Scholar]
  86. Neubuser A, Peters H, Balling R, Martin GR. Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell 1997;90(2):247–255. [CrossRef] [PubMed] [Google Scholar]
  87. Noden DM. The control of avian cephalic neural crest cytodifferentiation. I. Skeletal and connective tissues. Dev Biol 1978;67(2):296–312. [CrossRef] [PubMed] [Google Scholar]
  88. Noden DM. The control of avian cephalic neural crest cytodifferentiation. II. Neural tissues. Dev Biol 1978;67(2):313–329. [CrossRef] [PubMed] [Google Scholar]
  89. Noden DM. The embryonic origins of avian cephalic and cervical muscles and associated connective tissues. Am J Anat 1983;168(3):257–276. [CrossRef] [PubMed] [Google Scholar]
  90. Noden DM. Interactions and fates of avian craniofacial mesenchyme. Development 1988;103 Suppl:121–140. [Google Scholar]
  91. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997;16(3):235–242. [Google Scholar]
  92. Opitz JM, Gilbert EF. CNS anomalies and the midline as a french"developmental field". Am J Med Genet 1982;12(4):443–455. [CrossRef] [PubMed] [Google Scholar]
  93. Opstelten DJ, Vogels R, Robert B, Kalkhoven E, Zwartkruis F, de Laaf L, et al. The mouse homeobox gene, S8, is expressed during embryogenesis predominantly in mesenchyme. Mech Dev 1991;34(1):29–41. [CrossRef] [PubMed] [Google Scholar]
  94. Orr-Urtreger A, Avivi A, Zimmer Y, Givol D, Yarden Y, Lonai P. Developmental expression of c-kit, a proto-oncogene encoded by the W locus. Development 1990;109(4):911–923. [PubMed] [Google Scholar]
  95. Orr-Urtreger A, Lonai P. Platelet-derived growth factor-A and its receptor are expressed in separate, but adjacent cell layers of the mouse embryo. Development 1992;115(4):1045–1058. [PubMed] [Google Scholar]
  96. Osumi-Yamashita N, Kuratani S, Ninomiya Y, Aoki K, Iseki S, Chareonvit S, et al. Cranial anomaly of homozygous rSey rat is associated with a defect in the migration pathway of midbrain crest cells. Dev Growth Differ 1997;39(1):53–67. [CrossRef] [PubMed] [Google Scholar]
  97. Osumi-Yamashita N, Ninomiya Y, Doi H, Eto K. The contribution of both forebrain and midbrain crest cells to the mesenchyme in the frontonasal mass of mouse embryos. Dev Biol 1994;164(2):409–419. [CrossRef] [PubMed] [Google Scholar]
  98. Pabo CO, Sauer RT. Transcription factors: structural families and principles of DNA recognition. Annu Rev Biochem 1992;61:1053–1095. [CrossRef] [PubMed] [Google Scholar]
  99. Parr BA, Shea MJ, Vassileva G, McMahon AP. Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds. Development 1993;119(1):247–261. [PubMed] [Google Scholar]
  100. Platt KA, Michaud J, Joyner AL. Expression of the mouse Gli and Ptc genes is adjacent to embryonic sources of hedgehog signals suggesting a conservation of pathways between flies and mice. Mech Dev 1997;62(2):121–135. [CrossRef] [PubMed] [Google Scholar]
  101. Proetzel G, Pawlowski SA, Wiles MV, Yin M, Boivin GP, Howles PN, et al. Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet 1995;11(4):409–414. [CrossRef] [PubMed] [Google Scholar]
  102. Qiu M, Bulfone A, Ghattas I, Meneses JJ, Christensen L, Sharpe PT, et al. Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches. Dev Biol 1997;185(2):165–184. [CrossRef] [PubMed] [Google Scholar]
  103. Qiu M, Bulfone A, Martinez S, Meneses JJ, Shimamura K, Pedersen RA, et al. Null mutation of Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain. Genes Dev 1995;9(20):2523–2538. [CrossRef] [PubMed] [Google Scholar]
  104. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994;8(1):98–103. [CrossRef] [PubMed] [Google Scholar]
  105. Roberts VJ, Barth SL. Expression of messenger ribonucleic acids encoding the inhibin/activin system during mid- and late-gestation rat embryogenesis. Endocrinology 1994;134(2):914–923. [CrossRef] [PubMed] [Google Scholar]
  106. Robinson GW, Mahon KA. Differential and overlapping expression domains of Dlx-2 and Dlx-3 suggest distinct roles for Distal-less homeobox genes in craniofacial development. Mech Dev 1994;48(3):199–215. [CrossRef] [PubMed] [Google Scholar]
  107. Roelen BA, van Rooijen MA, Mummery CL. Expression of ALK-1, a type 1 serine/threonine kinase receptor, coincides with sites of vasculogenesis and angiogenesis in early mouse development. Dev Dyn 1997;209(4):418–430. [CrossRef] [PubMed] [Google Scholar]
  108. Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996;14(3):357–360. [Google Scholar]
  109. Ruppert JM, Kinzler KW, Wong AJ, Bigner SH, Kao FT, Law ML, et al. The GLI-Kruppel family of human genes. Mol Cell Biol 1988;8(8):3104–3113. [Google Scholar]
  110. Sanford LP, Ormsby I, Gittenberger-de Groot AC, Sariola H, Friedman R, Boivin GP, et al. TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. Development 1997;124(13):2659–2670. [Google Scholar]
  111. Schatteman GC, Morrison-Graham K, van Koppen A, Weston JA, Bowen-Pope DF. Regulation and role of PDGF receptor alpha-subunit expression during embryogenesis. Development 1992;115(1):123–131. [PubMed] [Google Scholar]
  112. Schorle H, Meier P, Buchert M, Jaenisch R, Mitchell PJ. Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature 1996;381(6579):235–238. [CrossRef] [PubMed] [Google Scholar]
  113. Shen H, Wilke T, Ashique AM, Narvey M, Zerucha T, Savino E, et al. Chicken transcription factor AP-2: cloning, expression and its role in outgrowth of facial prominences and limb buds. Dev Biol 1997;188(2):248–266. [Google Scholar]
  114. Shum L, Sakakura Y, Bringas P Jr., Luo W, Snead ML, Mayo M, et al. EGF abrogation-induced fusilli-form dysmorphogenesis of Meckel's cartilage during embryonic mouse mandibular morphogenesis in vitro. Development 1993;118(3):903–917. [PubMed] [Google Scholar]
  115. Sidow A, Bulotsky MS, Kerrebrock AW, Bronson RT, Daly MJ, Reeve MP, et al. Serrate2 is disrupted in the mouse limb-development mutant syndactylism. Nature 1997;389(6652):722–725. [CrossRef] [PubMed] [Google Scholar]
  116. Soriano P. The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites. Development 1997;124(14):2691–2700. [PubMed] [Google Scholar]
  117. Stadler HS, Solursh M. Characterization of the homeobox-containing gene GH6 identifies novel regions of homeobox gene expression in the developing chick embryo. Dev Biol 1994;161(1):251–262. [CrossRef] [PubMed] [Google Scholar]
  118. Stock DW, Ellies DL, Zhao Z, Ekker M, Ruddle FH, Weiss KM. The evolution of the vertebrate Dlx gene family. Proc Natl Acad Sci U S A 1996;93(20):10858–1063. [CrossRef] [PubMed] [Google Scholar]
  119. Stone JG, Spirling LI, Richardson MK. The neural crest population responding to endothelin-3 in vitro includes multipotent cells. J Cell Sci 1997;110 (Pt 14):1673–1682. [Google Scholar]
  120. Sun D, Vanderburg CR, Odierna GS, Hay, E.D. TGFb3 promotes transformation of chicken palate medial edge epithelium to mesenchyme in vitro. Development 1998;125:95–105. [PubMed] [Google Scholar]
  121. Suzuki HR, Padanilam BJ, Vitale E, Ramirez F, Solursh M. Repeating developmental expression of G-Hox 7, a novel homeobox-containing gene in the chicken. Dev Biol 1991;148(1):375–388. [CrossRef] [PubMed] [Google Scholar]
  122. Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355(6361):635–636. [CrossRef] [PubMed] [Google Scholar]
  123. Tissier-Seta JP, Mucchielli ML, Mark M, Mattei MG, Goridis C, Brunet JF. Barx1, a new mouse homeodomain transcription factor expressed in cranio-facial ectomesenchyme and the stomach. Mech Dev 1995;51(1):3–15. [CrossRef] [PubMed] [Google Scholar]
  124. Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991;67(6):1059–1074. [CrossRef] [PubMed] [Google Scholar]
  125. Tsukamoto AS, Grosschedl R, Guzman RC, Parslow T, Varmus HE. Expression of the int-1 gene in transgenic mice is associated with mammary gland hyperplasia and adenocarcinomas in male and female mice. Cell 1988;55(4):619–625. [CrossRef] [PubMed] [Google Scholar]
  126. Valsecchi C, Ghezzi C, Ballabio A, Rugarli EI. JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial-mesenchymal interactions. Mech Dev 1997;69(1-2):203–207. [CrossRef] [PubMed] [Google Scholar]
  127. Vershon AK, Johnson AD. A short, disordered protein region mediates interactions between the homeodomain of the yeast alpha 2 protein and the MCM1 protein. Cell 1993;72(1):105–112. [CrossRef] [PubMed] [Google Scholar]
  128. Vortkamp A, Gessler M, Grzeschik KH. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 1991;352(6335):539–540. [CrossRef] [PubMed] [Google Scholar]
  129. Wall NA, Hogan BL. Expression of bone morphogenetic protein-4 (BMP-4), bone morphogenetic protein-7 (BMP-7), fibroblast growth factor-8 (FGF-8) and sonic hedgehog (SHH) during branchial arch development in the chick. Mech Dev 1995;53(3):383–392. [CrossRef] [PubMed] [Google Scholar]
  130. Walther C, Gruss P. Pax-6, a murine paired box gene, is expressed in the developing CNS. Development 1991;113(4):1435–1449. [PubMed] [Google Scholar]
  131. Wang J, Shackleford GM. Murine Wnt10a and Wnt10b: cloning and expression in developing limbs, face and skin of embryos and in adults. Oncogene 1996;13(7):1537–1544. [PubMed] [Google Scholar]
  132. Warman ML, Mulliken JB, Hayward PG, Muller U. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet 1993;46(4):444–449. [CrossRef] [PubMed] [Google Scholar]
  133. Wedden SE. Epithelial-mesenchymal interactions in the development of chick facial primordia and the target of retinoid action. Development 1987;99(3):341–351. [PubMed] [Google Scholar]
  134. Wilcox JN, Derynck R. Developmental expression of transforming growth factors alpha and beta in mouse fetus. Mol Cell Biol 1988;8(8):3415–3422. [PubMed] [Google Scholar]
  135. Wilkie AO. Craniosynostosis: genes and mechanisms. Hum Mol Genet 1997;6(10):1647–1656. [CrossRef] [PubMed] [Google Scholar]
  136. Wilkie AO, Morriss-Kay GM, Jones EY, Heath JK. Functions of fibroblast growth factors and their receptors. Curr Biol 1995;5(5):500–507. [CrossRef] [PubMed] [Google Scholar]
  137. Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, et al. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet 2000;24(4):387–390. [CrossRef] [PubMed] [Google Scholar]
  138. Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A 1997;94(7):3110–3115. [CrossRef] [PubMed] [Google Scholar]
  139. Wolf C, Thisse C, Stoetzel C, Thisse B, Gerlinger P, Perrin-Schmitt F. The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes. Dev Biol 1991;143(2):363–373. [CrossRef] [PubMed] [Google Scholar]
  140. Wu L, Wu H, Ma L, Sangiorgi F, Wu N, Bell JR, et al. Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA. Mech Dev 1997;65(1-2):3–17. [CrossRef] [PubMed] [Google Scholar]
  141. Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, et al. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 2000;9(8):1251–1255. [CrossRef] [PubMed] [Google Scholar]
  142. Yamaguchi TP, Rossant J. Fibroblast growth factors in mammalian development. Curr Opin Genet Dev 1995;5(4):485–491. [CrossRef] [PubMed] [Google Scholar]
  143. Yanagisawa H, Yanagisawa M, Kapur RP, Richardson JA, Williams SC, Clouthier DE, et al. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 1998;125(5):825–836. [PubMed] [Google Scholar]
  144. Zhang H, Hu G, Wang H, Sciavolino P, Iler N, Shen MM, et al. Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism. Mol Cell Biol 1997;17(5):2920–2932. [PubMed] [Google Scholar]
  145. Zhang J, Hagopian-Donaldson S, Serbedzija G, Elsemore J, Plehn-Dujowich D, McMahon AP, et al. Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature 1996;381(6579):238–241. [CrossRef] [PubMed] [Google Scholar]