The genetic basis of craniofacial and dental abnormalities.

The embryonic head development, including the formation of dental structures, is a complex and delicate process guided by specific genetic programs. Genetic changes and environmental factors can disturb the execution of these programs and result in abnormalities in orofacial and dental structures. Orofacial clefts and hypodontia/ oligodontia are examples of such abnormalities frequently seen in dental clinics. An insight into the mechanisms and genes involved in the formation of orofacial and dental structures has been gradually gained by genetic analysis of families and by the use of experimental vertebrate models such as the mouse and chick models. The development of novel clinical therapies for orofacial and dental pathological conditions depends very much on a detailed knowledge of the molecular and cellular processes that are involved in head formation.

[1]  F. Nunes,et al.  Differential Shh, Bmp and Wnt gene expressions during craniofacial development in mice. , 2010, Acta histochemica.

[2]  D. Graf,et al.  Cell fate determination during tooth development and regeneration. , 2009, Birth defects research. Part C, Embryo today : reviews.

[3]  Takashi Nakamura,et al.  Fully functional bioengineered tooth replacement as an organ replacement therapy , 2009, Proceedings of the National Academy of Sciences.

[4]  M. Depew,et al.  Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome , 2009, Developmental biology.

[5]  H. Luder,et al.  Deletion of BMP7 affects the development of bones, teeth, and other ectodermal appendages of the orofacial complex. , 2009, Journal of experimental zoology. Part B, Molecular and developmental evolution.

[6]  V. Kaartinen,et al.  Signaling through Tgf-β type I receptor Alk5 is required for upper lip fusion , 2008, Mechanisms of Development.

[7]  H. Luder,et al.  Stem cells for tooth engineering. , 2008, European cells & materials.

[8]  Deepak M. Gupta,et al.  Tissue Engineering in Cleft Palate and Other Congenital Malformations , 2008, Pediatric Research.

[9]  E. Bronkhorst,et al.  Cephalometric evaluation of long-term craniofacial development in unilateral cleft lip and palate patients treated with delayed hard palate closure. , 2008, International journal of oral and maxillofacial surgery.

[10]  Anne Marie Kuijpers-Jagtman,et al.  Nasolabial appearance in unilateral cleft lip, alveolus and palate: a comparison with Eurocleft. , 2007, Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery.

[11]  Anthony Atala,et al.  Isolation of amniotic stem cell lines with potential for therapy , 2007, Nature Biotechnology.

[12]  B. Maher,et al.  Impaired FGF signaling contributes to cleft lip and palate , 2007, Proceedings of the National Academy of Sciences.

[13]  T. Kameda,et al.  Differentiation of an ameloblast-lineage cell line (ALC) is induced by Sonic hedgehog signaling. , 2007, Biochemical and biophysical research communications.

[14]  P H Krebsbach,et al.  Craniofacial Tissue Engineering by Stem Cells , 2006, Journal of dental research.

[15]  M. J. Harris,et al.  Wnt9b is the mutated gene involved in multifactorial nonsyndromic cleft lip with or without cleft palate in A/WySn mice, as confirmed by a genetic complementation test. , 2006, Birth defects research. Part A, Clinical and molecular teratology.

[16]  I. Morita,et al.  Sonic Hedgehog Signaling is Important in Tooth Root Development , 2006, Journal of dental research.

[17]  Wolfram Kress,et al.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 , 2005, Nature Genetics.

[18]  A. Kuijpers-Jagtman,et al.  Myofibroblasts in Palatal Wound Healing: Prospects for the Reduction of Wound Contraction after Cleft Palate Repair , 2005, Journal of dental research.

[19]  C. Chuong,et al.  Morphoregulation of teeth: modulating the number, size, shape and differentiation by tuning Bmp activity , 2005, Evolution & development.

[20]  M. MacDonald,et al.  Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 , 2005, Journal of Medical Genetics.

[21]  S. Karlsson,et al.  Inactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome. , 2005, Genes & development.

[22]  C. Mattick,et al.  MANAGEMENT OF CHILDREN WITH CLEFT LIP AND PALATE: A REVIEW DESCRIBING THE APPLICATION OF MULTIDISCIPLINARY TEAM WORKING IN THIS CONDITION BASED UPON THE EXPERIENCES OF A REGIONAL CLEFT LIP AND PALATE CENTRE IN THE UNITED KINGDOM , 2005 .

[23]  Ping Wu,et al.  Molecular Shaping of the Beak , 2004, Science.

[24]  K. Christensen,et al.  Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. , 2004, The New England journal of medicine.

[25]  S. Modino,et al.  Stem-cell-based Tissue Engineering of Murine Teeth , 2004, Journal of dental research.

[26]  A. McMahon,et al.  Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate. , 2004, The Journal of clinical investigation.

[27]  P. Trainor,et al.  The therapeutic potential of stem cells in the treatment of craniofacial abnormalities , 2004, Expert opinion on biological therapy.

[28]  M. Lopes,et al.  Dental alterations associated with X-linked hypophosphatemic rickets. , 2004, Journal of endodontics.

[29]  Philip Stanier,et al.  Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. , 2004, Human molecular genetics.

[30]  Chengfeng Zhao,et al.  Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. , 2004, American journal of human genetics.

[31]  C. Shuler,et al.  Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects , 2003, Development.

[32]  K. Christensen,et al.  Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate , 2003, Journal of medical genetics.

[33]  I. Thesleff,et al.  Ectodysplasin signaling in development. , 2003, Cytokine & growth factor reviews.

[34]  P. Schneider,et al.  Permanent correction of an inherited ectodermal dysplasia with recombinant EDA , 2003, Nature Medicine.

[35]  P. Patel,et al.  Novel missense mutations and a 288‐bp exonic insertion in PAX9 in families with autosomal dominant hypodontia , 2003, American journal of medical genetics. Part A.

[36]  F. Speleman,et al.  Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome , 2003, Nature Genetics.

[37]  A. McMahon,et al.  Shh signaling within the dental epithelium is necessary for cell proliferation, growth and polarization , 2002, Development.

[38]  M. Patton,et al.  Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. , 2002, Human molecular genetics.

[39]  K. Fu,et al.  Endogenous bone morphogenetic proteins regulate outgrowth and epithelial survival during avian lip fusion. , 2002, Development.

[40]  Jeffrey C. Murray,et al.  Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes , 2002, Nature Genetics.

[41]  A. Boyde,et al.  Stem Cell Properties of Human Dental Pulp Stem Cells , 2002, Journal of dental research.

[42]  G. Pilu,et al.  Two‐dimensional ultrasound is accurate in the diagnosis of fetal craniofacial malformation , 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[43]  A. Lidral,et al.  The Role of MSX1 in Human Tooth Agenesis , 2002, Journal of dental research.

[44]  J. McGrath,et al.  EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA‐based prenatal diagnosis , 2002, The British journal of dermatology.

[45]  D. Milewicz,et al.  A novel mutation in human PAX9 causes molar oligodontia. , 2002, Journal of dental research.

[46]  L. Paulin,et al.  Identification of a nonsense mutation in the PAX9 gene in molar oligodontia , 2001, European Journal of Human Genetics.

[47]  J. Seidman,et al.  A nonsense mutation in MSX1 causes Witkop syndrome. , 2001, American journal of human genetics.

[48]  A. Wilkie,et al.  Genetics of craniofacial development and malformation , 2001, Nature Reviews Genetics.

[49]  J. J. Lee,et al.  Immunolocalization of fibroblast growth factor receptors 1 and 2 in mouse palate development. , 2001, Plastic and reconstructive surgery.

[50]  I. Thesleff,et al.  Characteristics of Incisor-Premolar Hypodontia in Families , 2001, Journal of dental research.

[51]  A. McMahon,et al.  Sonic hedgehog regulates growth and morphogenesis of the tooth. , 2000, Development.

[52]  T. Meitinger,et al.  Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23 , 2000, Nature Genetics.

[53]  H. Vastardis.  The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. , 2000, American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics.

[54]  F. Beemer,et al.  MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans , 2000, Nature Genetics.

[55]  P. Sharpe,et al.  Inhibition of Wnt Signaling by Exogenous Mfrzbl Protein Affects Molar Tooth Size , 2000, Journal of dental research.

[56]  A. Wilkie,et al.  Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis , 2000, Mechanisms of Development.

[57]  A. McMahon,et al.  T (Brachyury) is a direct target of Wnt3a during paraxial mesoderm specification. , 1999, Genes & development.

[58]  D. Hu,et al.  The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. , 1999, Development.

[59]  Michael Bamshad,et al.  Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome , 1999, Cell.

[60]  Randy L. Johnson,et al.  Function of Rieger syndrome gene in left–right asymmetry and craniofacial development , 1999, Nature.

[61]  H. Vogel,et al.  p63 is a p53 homologue required for limb and epidermal morphogenesis , 1999, Nature.

[62]  M. Pittenger,et al.  Multilineage potential of adult human mesenchymal stem cells. , 1999, Science.

[63]  K. Kratochwil,et al.  Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. , 1998, Genes & development.

[64]  G. Shaw,et al.  Racial and ethnic variations in the prevalence of orofacial clefts in California, 1983-1992. , 1998, American journal of medical genetics.

[65]  C. Hui,et al.  The Shh signalling pathway in tooth development: defects in Gli2 and Gli3 mutants. , 1998, Development.

[66]  J. Rubenstein,et al.  Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. , 1998, American journal of human genetics.

[67]  D. Rice,et al.  FGF-, BMP- and Shh-mediated signalling pathways in the regulation of cranial suture morphogenesis and calvarial bone development. , 1998, Development.

[68]  S. Mackem,et al.  Soluble dominant‐negative receptor uncovers essential roles for fibroblast growth factors in multi‐organ induction and patterning , 1998, The EMBO journal.

[69]  N. Brockdorff,et al.  Cloning of Tabby, the murine homolog of the human EDA gene: evidence for a membrane-associated protein with a short collagenous domain. , 1997, Human molecular genetics.

[70]  V. Kaartinen,et al.  Transforming growth factor‐β3 regulates transdifferentiation of medial edge epithelium during palatal fusion and associated degradation of the basement membrane , 1997, Developmental dynamics : an official publication of the American Association of Anatomists.

[71]  S. Scherer,et al.  Mutations in the human Sonic Hedgehog gene cause holoprosencephaly , 1996, Nature Genetics.

[72]  J. Seidman,et al.  A human MSX1 homeodomain missense mutation causes selective tooth agenesis , 1996, Nature Genetics.

[73]  D. Schlessinger,et al.  X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein , 1996, Nature Genetics.

[74]  I. Vořechovský,et al.  A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (*) , 1996, The Journal of Biological Chemistry.

[75]  V. Kaartinen,et al.  Abnormal lung development and cleft palate in mice lacking TGF–β3 indicates defects of epithelial–mesenchymal interaction , 1995, Nature Genetics.

[76]  P. Francis-West,et al.  Expression patterns of the bone morphogenetic protein genes Bmp‐4 and Bmp‐2 in the developing chick face suggest a role in outgrowth of the primordia , 1994, Developmental dynamics : an official publication of the American Association of Anatomists.

[77]  R. Maas,et al.  Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development , 1994, Nature Genetics.

[78]  J. T. Wright,et al.  Dental and craniofacial anomalies of Axenfeld-Rieger syndrome. , 1986, Journal of oral pathology.

[79]  D J Mooney,et al.  Craniofacial tissue engineering. , 2001, Critical reviews in oral biology and medicine : an official publication of the American Association of Oral Biologists.

[80]  P. Patel,et al.  Mutation of PAX9 is associated with oligodontia , 2000, Nature Genetics.

[81]  S. Kreiborg,et al.  The oral manifestations of Apert syndrome. , 1992, Journal of craniofacial genetics and developmental biology.

[82]  A. Kuijpers-Jagtman,et al.  A histological study of tissue response to simulated cleft palate surgery at different ages in beagle dogs. , 1991, Archives of oral biology.