Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Typ-2-Diabetes und Adipositas Klimawandel und Gesundheit Neues aus dem Markt COVID-19 Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Häufige urologisch-sexualmedizinische Themen in der Praxis sind das Thema des MMW-Webinars am 5. Juni von 17.30 bis 19 Uhr. Konkret geht es um die Frage, wann bei Harnwegsinfektionen auf Antibiotika verzichtet werden kann, und um ein Update zur Therapie von Libido- und Potenzstörungen des Mannes. Der dritte Vortrag behandelt sexuell übertragbare Krankheiten. Stellen Sie Ihre Fragen an die Experten und sammeln Sie 2 CME-Punkte. Jetzt gleich anmelden!
Erweiterte Suche
Anmelden
nach oben
medizinische genetik
Erschienen in: medizinische genetik 4/2007

01.12.2007 | Schwerpunktthema: Zahnentwicklung und Zahnanomalien in der Humangenetik

Genetische Störungen der Zahnentwicklung und Dentition

verfasst von: Dr. A. Bloch-Zupan, DChD, PhD, HDR, MCU-PH, Oral biology

Erschienen in: medizinische genetik | Ausgabe 4/2007

Einloggen, um Zugang zu erhalten

Zusammenfassung

Die Zähne sind Organe, die aus ektodermalen epithelialen Aussackungen im Bereich des 1. Kiemenbogens entstehen, gesteuert von epitheliomesenchymalen Interaktionen. Dabei spielen zahlreiche Signalmoleküle speziell der 4 großen Familien TGF-β, FGF, Hedgehog und WNT sowie diverse Transkriptionsfaktoren eine Rolle. Eine Beteiligung der Retinoide an der Odontogenese ist durch umfangreiche Befunde belegt, auch wenn die Inaktivierung relevanter Gene in Mausmodellen meist keine Zahnanomalien verursacht. Die Zahnentwicklung wird klassischerweise in verschiedene Stadien eingeteilt: Entstehung der Zahnleiste, der Zahnknospe, der Schmelzkappe, der Schmelzglocke, die Wurzelbildung und der Zahndurchbruch. Anomalien der Zahnentwicklung können isoliert oder gemeinsam mit anderen Symptomen im Zusammenhang mit Syndromen auftreten. Sie können genetisch bedingt sein oder unter Einwirkung teratogener Stoffe während der Bildung und Mineralisierung der Zahnkeime zustande kommen. Dentibukkale Entwicklungsanomalien treten im Kontext seltener Erkrankungen auf und finden zunehmend Beachtung, da sie bei bestimmten Erkrankungen in der Diagnostik und als prädikative Faktoren wichtige Anhaltspunkte geben können. Allerdings ist hierfür eine interdisziplinäre und internationale Kooperation notwendig, die bislang erst in Ansätzen verwirklicht wurde.
Literatur
1.
Abboud SL, Woodruff K, Liu C et al. (2002) Rescue of the osteopetrotic defect in op/op mice by osteoblast-specific targeting of soluble colony-stimulating factor-1. Endocrinology 143: 1942–1949PubMedCrossRef
2.
Aberg T, Cavender A, Gaikwad JS et al. (2004) Phenotypic changes in dentition of Runx2 homozygote-null mutant mice. J Histochem Cytochem 52: 131–140PubMedCrossRef
3.
Aberg T, Wang XP, Kim JH et al. (2004) Runx2 mediates FGF signaling from epithelium to mesenchyme during tooth morphogenesis. Dev Biol 270: 76–93PubMedCrossRef
4.
Alaluusua S, Lukinmaa PL, Torppa J et al. (1999) Developing teeth as biomarker of dioxin exposure. Lancet 353: 206PubMedCrossRef
5.
Alaluusua S (2006) Amoxicillin may be a cause of enamel hypomineralization. Duodecim 122: 491–492PubMed
6.
Alaluusua S, Lukinmaa PL (2006) Developmental dental toxicity of dioxin and related compounds--a review. Int Dent J 56: 323–331PubMedCrossRef
7.
Aldred MJ, Savarirayan R, Crawford PJ (2003) Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Dis 9: 19–23PubMedCrossRef
8.
Arte S, Pirinen S (2003) Hypodontia. Orphanet encyclopedia http://​www.​orpha.​net/​data/​patho/​GB/​uk-hypodontia.​pdf:update 2004
9.
Aubin I, Adams CP, Opsahl S et al. (2005) A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse. Nat Genet 37: 803–805PubMedCrossRef
10.
Ayme S, Urbero B, Oziel D et al. (1998) Information on rare diseases: the Orphanet project. Rev Med Interne (Suppl 3) 19: 376S–377S
11.
Ayme S (2003) Orphanet, an information site on rare diseases. Soins 672: 46–47
12.
Bartlett JD, Zhou Z, Skobe Z et al. (2003) Delayed tooth eruption in membrane type-1 matrix metalloproteinase deficient mice. Connect Tissue Res (Suppl 1) 44: 300–304CrossRef
13.
Bartlett JD, Ganss B, Goldberg M et al. (2006) 3. Protein-protein interactions of the developing enamel matrix. Curr Top Dev Biol 74: 57–115PubMedCrossRef
14.
Bartlett JD, Skobe Z, Lee DH et al. (2006) A developmental comparison of matrix metalloproteinase-20 and amelogenin null mouse enamel. Eur J Oral Sci (Suppl 1) 114: 18–23; discussion 39–41, 379CrossRef
15.
Begue-Kirn C, Smith AJ, Ruch JV et al. (1992) Effects of dentin proteins, transforming growth factor beta 1 (TGF beta 1) and bone morphogenetic protein 2 (BMP2) on the differentiation of odontoblast in vitro. Int J Dev Biol 36: 491–503PubMed
16.
Bei M, Maas R (1998) FGFs and BMP4 induce both Msx1-independent and Msx1-dependent signaling pathways in early tooth development. Development 125: 4325–4333PubMed
17.
Bei M, Kratochwil K, Maas RL (2000) BMP4 rescues a non-cell-autonomous function of Msx1 in tooth development. Development 127: 4711–4718PubMed
18.
Berdal A, Papagerakis P, Hotton D et al. (1995) Ameloblasts and odontoblasts, target-cells for 1,25-dihydroxyvitamin D3: a review. Int J Dev Biol 39: 257–262PubMed
19.
Berdal A (2003) [Gene/environment relations in the development of tooth anomalies]. Arch Pediatr (Suppl 1) 10: 16s–18s
20.
Berkovitz BK, Maden M, McCaffery P et al. (2001) The distribution of retinaldehyde dehydrogenase-2 in rat and human orodental tissues. Arch Oral Biol 46: 1099–1104PubMedCrossRef
21.
Bloch-Zupan A (1993) La vitamine A, une vitamine indispensable au développment dentaire. Bulletin de l’Académie Nationale de Chirurgie Dentaire 39: 64–67
22.
Bloch-Zupan A, Decimo D, Loriot M et al. (1994) Expression of nuclear retinoic acid receptors during mouse odontogenesis. Differentiation 57: 195–203PubMedCrossRef
23.
Bloch-Zupan A, Lecolle S, Goldberg M (1994) Galactosylceramide lipidosis (Krabbe’s disease) and deciduous dental tissues. A case report. J Submicrosc Cytol Pathol 26: 425–435PubMed
24.
Bloch-Zupan A, Mark MP, Weber B et al. (1994) In vitro effects of retinoic acid on mouse incisor development. Arch Oral Biol 39: 891–900PubMedCrossRef
25.
Bloch-Zupan A, Cousandier L, Hemmerle J (1997) Dens in dente: aspects ultrastructuraux. Journal d’Odonto-Stomatologie Pédiatrique 7: 47–54
26.
Bloch-Zupan A, Machwirth F (1997) Les amélogenèses imparfaites: vers une classification moléculaire. Journal d’Odonto-Stomatologie Pédiatrique 7: 81–88
27.
Bloch-Zupan A, Leveillard T, Gorry P et al. (1998) Expression of p21(WAF1/CIP1) during mouse odontogenesis. Eur J Oral Sci (Suppl 1) 106: 104–111CrossRef
28.
Bloch-Zupan A (2002) Genomics. In: Scully CS (ed) Oxford Handbook of Applied Dental Sciences
29.
Bloch-Zupan A (2004) Odonto-génétique: une nouvelle facette de notre profession! Le Chirurgien Dentiste de France 1182: 77–86
30.
Bloch-Zupan A, Mornet E (2005) L’Odontohypophosphatasie. Le Chirurgien Dentiste de France 1235: 27–29
31.
32.
Bloch-Zupan A (2007) Robert James Gorlin: Chirurgien-dentiste et généticien. Le Chirurgien Dentiste de France 1295: 22–24
33.
Bloch-Zupan A, Stachtou J, Emmanouil D et al. (2007) Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet A 143: 570–573CrossRef
34.
Blomhoff R, Green MH, Berg T et al. (1990) Transport and storage of vitamin A. Science 250: 399–404PubMedCrossRef
35.
Blomhoff R, Green MH, Green JB et al. (1991) Vitamin A metabolism: new perspectives on absorption, transport, and storage. Physiol Rev 71: 951–990PubMedCrossRef
36.
Boran T, Lesot H, Peterka M et al. (2005) Increased apoptosis during morphogenesis of the lower cheek teeth in tabby/EDA mice. J Dent Res 84: 228–233PubMedCrossRef
37.
Butler WT, Brunn JC, Qin C (2003) Dentin extracellular matrix (ECM) proteins: comparison to bone ECM and contribution to dynamics of dentinogenesis. Connect Tissue Res (Suppl 1) 44: 171–178CrossRef
38.
39.
Chai Y, Jiang X, Ito Y et al. (2000) Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis. Development 127: 1671–1679PubMed
40.
Chambon P (1996) A decade of molecular biology of retinoic acid receptors. Faseb J 10: 940–954PubMedCrossRef
41.
Cho SW, Kim JY, Cai J et al. (2007) Temporospatial tissue interactions regulating the regeneration of the enamel knot in the developing mouse tooth. Differentiation 75: 158–165PubMedCrossRef
42.
Cho SW, Lee HA, Cai J et al. (2007) The primary enamel knot determines the position of the first buccal cusp in developing mice molars. Differentiation 75: 441–451PubMedCrossRef
43.
Cobourne MT, Sharpe PT (2003) Tooth and jaw: molecular mechanisms of patterning in the first branchial arch. Arch Oral Biol 48: 1–14PubMedCrossRef
44.
Cobourne MT, Sharpe PT (2005) Sonic hedgehog signaling and the developing tooth. Curr Top Dev Biol 65: 255–287PubMedCrossRef
45.
Cobourne MT, Mitsiadis T (2006) Neural crest cells and patterning of the mammalian dentition. J Exp Zoolog B Mol Dev Evol 306: 251–260CrossRef
46.
Courtney JM, Blackburn J, Sharpe PT (2005) The Ectodysplasin and NFkappaB signalling pathways in odontogenesis. Arch Oral Biol 50: 159–163PubMedCrossRef
47.
48.
D’Souza RN, Aberg T, Gaikwad J et al. (1999) Cbfa1 is required for epithelial-mesenchymal interactions regulating tooth development in mice. Development 126: 2911–2920
49.
Das P, Stockton DW, Bauer C et al. (2002) Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 110: 371–376PubMedCrossRef
50.
Dassule HR, Lewis P, Bei M et al. (2000) Sonic hedgehog regulates growth and morphogenesis of the tooth. Development 127: 4775–4785PubMed
51.
De Coster PJ, Verbeeck RM, Holthaus V et al. (2006) Seckel syndrome associated with oligodontia, microdontia, enamel hypoplasia, delayed eruption, and dentin dysmineralization: a new variant? J Oral Pathol Med 35: 639–641CrossRef
52.
Depew MJ, Tucker AS, Sharpe P (2002) Craniofacial development. In: Rossant J, Tam PPL (eds) Mouse development, Patterning, Morphogenesis, and Organogenesis. Academic Press, London, pp 421–498CrossRef
53.
Embery G, Hall R, Waddington R et al. (2001) Proteoglycans in dentinogenesis. Crit Rev Oral Biol Med 12: 331–349PubMedCrossRef
54.
Fedarko NS, Jain A, Karadag A et al. (2004) Three small integrin binding ligand N-linked glycoproteins (SIBLINGs) bind and activate specific matrix metalloproteinases. Faseb J 18: 734–736PubMedCrossRef
55.
Fincham AG, Moradian-Oldak J, Simmer JP (1999) The structural biology of the developing dental enamel matrix. J Struct Biol 126: 270–299PubMedCrossRef
56.
Fisher LW, Fedarko NS (2003) Six genes expressed in bones and teeth encode the current members of the SIBLING family of proteins. Connect Tissue Res (Suppl 1) 44: 33–40CrossRef
57.
Fomon SJ, Ekstrand J, Ziegler EE (2000) Fluoride intake and prevalence of dental fluorosis: trends in fluoride intake with special attention to infants. J Public Health Dent 60: 131–139PubMedCrossRef
58.
Foster BL, Popowics TE, Fong HK et al. (2007) Advances in defining regulators of cementum development and periodontal regeneration. Curr Top Dev Biol 78: 47–126PubMedCrossRef
59.
Francis-West P, Ladher R, Barlow A et al. (1998) Signalling interactions during facial development. Mech Dev 75: 3–28PubMedCrossRef
60.
Fryns JP, de Ravel TJ (2002) London Dysmorphology Database, London Neurogenetics Database and Dysmorphology Photo Library on CD-ROM [Version 3] 2001R. M. Winter, M. Baraitser, Oxford University Press, ISBN 019851–780, pound sterling 1595. Hum Genet 111: 113CrossRef
61.
Gibson CW, Yuan ZA, Hall B et al. (2001) Amelogenin-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem 276: 31871–31875PubMedCrossRef
62.
Goldberg M, Gritli A, Bloch-Zupan A et al. (1992) Effets des maladies de surcharge lysosomale sur l’odontogenèse. Entretiens de Bichat – Odontologie et Stomatologie, Expansion Scientifique Française, pp 7–11
63.
Goldberg M, Gritli A, Bloch-Zupan A et al. (1993) Maladies de surcharge lysosomale, génétiques ou induites pharmacologiquement: effets de pathologies de glycosaminoglycanes et de sphingolipides sur les tissus dentaires. CR Soc Biol 187: 596–607
64.
Goldberg M, Septier D, Lecolle S et al. (1995) Lipids in predentine and dentine. Connect Tissue Res 33: 105–114PubMedCrossRef
65.
Goldberg M, Septier D (2002) Phospholipids in amelogenesis and dentinogenesis. Crit Rev Oral Biol Med 13: 276–290PubMedCrossRef
66.
Goldberg M, Rapoport O, Septier D et al. (2003) Proteoglycans in predentin: the last 15 micrometers before mineralization. Connect Tissue Res (Suppl 1) 44: 184–188CrossRef
67.
Gorlin RJ, Cohen MM, Hennekam JRCM (2001) Syndromes of the head and neck. 4th ed. Oxford: University Press
68.
Gregory-Evans CY, Moosajee M, MacKay DS et al. (2007) SNP genome scanning localises microdeletions of chromosome 11q13 in oto-dental syndrome implicating FGF3 in dental and inner ear disease and FADD in ocular coloboma. Hum Mol Genet, in revision
69.
Gritli-Linde A, Bei M, Maas R et al. (2002) Shh signaling within the dental epithelium is necessary for cell proliferation, growth and polarization. Development 129: 5323–5337PubMedCrossRef
70.
Guest SS, Evans CD, Winter RM (1999) The Online London Dysmorphology Database. Genet Med 1: 207–212PubMedCrossRef
71.
72.
Hardcastle Z, Hui CC, Sharpe PT (1999) The Shh signalling pathway in early tooth development. Cell Mol Biol (Noisy-le-grand) 45: 567–578
73.
Hart PS, Hart TC, Michalec MD et al. (2004) Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 41: 545–549PubMedPubMedCentralCrossRef
74.
Hart S, Hart T, Gibson C et al. (2000) Mutational analysis of X-linked amelogenesis imperfecta in multiple families. Arch Oral Biol 45: 79–86PubMedCrossRef
75.
Hart TC, Hart PS, Gorry MC et al. (2003) Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 40: 900–906PubMedPubMedCentralCrossRef
76.
Haruyama N, Thyagarajan T, Skobe Z et al. (2006) Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects. Eur J Oral Sci (Suppl 1) 114: 30–34; discussion 39–41, 379CrossRef
77.
Helfrich MH (2005) Osteoclast diseases and dental abnormalities. Arch Oral Biol 50: 115–122PubMedCrossRef
78.
Hovorakova M, Lesot H, Peterka M et al. (2005) The developmental relationship between the deciduous dentition and the oral vestibule in human embryos. Anat Embryol (Berl) 209: 303–313
79.
Idrees F, Bloch-Zupan A, Free SL et al. (2006) A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. Am J Med Genet B Neuropsychiatr Genet 141: 184–191CrossRef
80.
Iwasaki K, Bajenova E, Somogyi-Ganss E et al. (2005) Amelotin – a novel secreted, ameloblast-specific protein. J Dent Res 84: 1127–1132PubMedCrossRef
81.
Jarvinen E, Salazar-Ciudad I, Birchmeier W et al. (2006) Continuous tooth generation in mouse is induced by activated epithelial Wnt/beta-catenin signaling. Proc Natl Acad Sci US 103: 18627–18632CrossRef
82.
Jernvall J, Kettunen P, Karavanova I et al. (1994) Evidence for the role of the enamel knot as a control center in mammalian tooth cusp formation: non-dividing cells express growth stimulating Fgf-4 gene. Int J Dev Biol 38: 463–469PubMed
83.
Jernvall J, Aberg T, Kettunen P et al. (1998) The life history of an embryonic signaling center: BMP-4 induces p21 and is associated with apoptosis in the mouse tooth enamel knot. Development 125: 161–169PubMed
84.
Jernvall J, Keranen SV, Thesleff I (2000) From the cover: evolutionary modification of development in mammalian teeth: quantifying gene expression patterns and topography. Proc Natl Acad Sci USA 97: 14444–14448PubMedCrossRefPubMedCentral
85.
Jernvall J, Thesleff I (2000) Reiterative signaling and patterning during mammalian tooth morphogenesis. Mech Dev 92: 19–29PubMedCrossRef
86.
Jung HS, Francis-West PH, Widelitz RB et al. (1998) Local inhibitory action of BMPs and their relationships with activators in feather formation: implications for periodic patterning. Dev Biol 196: 11–23PubMedCrossRef
87.
Kettunen P, Thesleff I (1998) Expression and function of FGFs-4, -8, and −9 suggest functional redundancy and repetitive use as epithelial signals during tooth morphogenesis. Dev Dyn 211: 256–268PubMedCrossRef
88.
Kii I, Amizuka N, Minqi L et al. (2006) Periostin is an extracellular matrix protein required for eruption of incisors in mice. Biochem Biophys Res Commun 342: 766–772PubMedCrossRef
89.
Kim JW, Seymen F, Lin BP et al. (2005) ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res 84: 278–282PubMedCrossRef
90.
Kim JW, Simmer JP, Hart TC et al. (2005) MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet 42: 271–275PubMedPubMedCentralCrossRef
91.
Kitamura K, Miura H, Miyagawa-Tomita S et al. (1999) Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism. Development 126: 5749–5758PubMed
92.
Knight RD, Schilling TF (2006) Cranial neural crest and development of the head skeleton. Adv Exp Med Biol 589: 120–133PubMedCrossRef
93.
Knudsen PA (1965) Fusion of upper incisors at bud or cap stage in mouse embryos with exencephaly induced by hypervitaminosis A. Acta Odontol Scand 23: 549–565PubMedCrossRef
94.
Knudsen PA (1966) Congenital malformations of the jaws and related structures in exencephalic mouse embryos with anomalous molar germs, induced by hypervitaminosis A. Acta Odontol Scand 24: 679–707PubMed
95.
Koch G (2003) Prevalence of enamel mineralisation disturbances in an area with 1–1.2 ppm F in drinking water. Review and summary of a report published in Sweden in 1981. Eur J Paediatr Dent 4: 127–128PubMed
96.
Koyama E, Wu C, Shimo T et al. (2001) Development of stratum intermedium and its role as a Sonic hedgehog- signaling structure during odontogenesis. Dev Dyn 222: 178–191PubMedCrossRef
97.
Kratochwil K, Dull M, Farinas I et al. (1996) Lef1 expression is activated by BMP-4 and regulates inductive tissue interactions in tooth and hair development. Genes Dev 10: 1382–1394PubMedCrossRef
98.
Kronmiller JE, Beeman CS (1994) Spatial distribution of endogenous retinoids in the murine embryonic mandible. Arch Oral Biol 39: 1071–1078PubMedCrossRef
99.
Kronmiller JE, Beeman CS, Nguyen T et al. (1995) Blockade of the initiation of murine odontogenesis in vitro by citral, an inhibitor of endogenous retinoic acid synthesis. Arch Oral Biol 40: 645–652PubMedCrossRef
100.
Kurisu K, Tabata MJ (1998) Hereditary diseases with tooth anomalies and their causal genes. Kaibogaku Zasshi 73: 201–208PubMed
101.
Lammi L, Halonen K, Pirinen S et al. (2003) A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur J Hum Genet 11: 866–871PubMedCrossRef
102.
Lammi L, Arte S, Somer M et al. (2004) Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74: 1043–1050PubMedPubMedCentralCrossRef
103.
Laurikkala J, Mikkola M, Mustonen T et al. (2001) TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis. Dev Biol 229: 443–455PubMedCrossRef
104.
Lesot H, Lisi S, Peterkova R et al. (2001) Epigenetic signals during odontoblast differentiation. Adv Dent Res 15: 8–13PubMedCrossRef
105.
Li Y, Yuan ZA, Aragon MA et al. (2006) Comparison of body weight and gene expression in amelogenin null and wild-type mice. Eur J Oral Sci (Suppl 1) 114: 190–193CrossRef
106.
Lidral AC, Reising BC (2002) The role of MSX1 in human tooth agenesis. J Dent Res 81: 274–278PubMedCrossRef
107.
Lin CR, Kioussi C, O’Connell S et al. (1999) Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature 401: 279–282PubMedCrossRef
108.
Line SR (2003) Variation of tooth number in mammalian dentition: connecting genetics, development, and evolution. Evol Dev 5: 295–304PubMedCrossRef
109.
London J, Birkedal-Hansen H (2000) Opportunities in dental, oral, and craniofacial research. Compend Contin Educ Dent 21: 760–762, 764, 766PubMed
110.
111.
Maas R, Bei M (1997) The genetic control of early tooth development. Crit Rev Oral Biol Med 8: 4–39PubMedCrossRef
112.
MacDougall M (2003) Dental structural diseases mapping to human chromosome 4q21. Connect Tissue Res (Suppl 1) 44: 285–291CrossRef
113.
MacDougall M, Dong J, Acevedo AC. (2006) Molecular basis of human dentin diseases. Am J Med Genet A 140: 2536–2546PubMedCrossRef
114.
Magloire H, Couble ML, Romeas A et al. (2004) Odontoblast primary cilia: facts and hypotheses. Cell Biol Int 28: 93–99PubMedCrossRef
115.
Mardh CK, Backman B, Holmgren G et al. (2002) A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet 11: 1069–1074PubMedCrossRef
116.
Mark M, Lohnes D, Mendelsohn C et al. (1995) Roles of retinoic acid receptors and of Hox genes in the patterning of the teeth and of the jaw skeleton. Int J Dev Biol 39: 111–121PubMed
117.
Mark MP, Bloch-Zupan A, Wolf C et al. (1991) Involvement of cellular retinoic acid-binding proteins I and II (CRABPI and CRABPII) and of the cellular retinol-binding protein I (CRBPI) in odontogenesis in the mouse. Differentiation 48: 89–98PubMedCrossRef
118.
Mark MP, Bloch-Zupan A, Ruch JV (1992) Effects of retinoids on tooth morphogenesis and cytodifferentiations, in vitro. Int J Dev Biol 36: 517–526PubMed
119.
Mark MP, Bloch-Zupan A, Ruch JV (1992) Patterned distributions of chondroitin sulfate isoforms, retinoic acid receptor gamma and cellular retinoic acid binding proteins in the embryonic mouse incisor. Proc Finn Dent Soc 88: 439–449PubMed
120.
121.
Matalova E, Antonarakis GS, Sharpe PT et al. (2005) Cell lineage of primary and secondary enamel knots. Dev Dyn 233: 754–759PubMedCrossRef
122.
Matzuk MM, Kumar TR, Bradley A (1995) Different phenotypes for mice deficient in either activins or activin receptor type II. Nature 374: 356–360PubMedCrossRef
123.
McDowell EM, Shores RL, Spangler EF et al. (1987) Anomalous growth of rat incisor teeth during chronic intermittent vitamin A deficiency. J Nutr 117: 1265–1274PubMedCrossRef
124.
Michaelides M, Bloch-Zupan A, Holder GE et al. (2004) An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J Med Genet 41: 468–473PubMedPubMedCentralCrossRef
125.
Mikkola ML, Thesleff I (2003) Ectodysplasin signaling in development. Cytokine Growth Factor Rev 14: 211–224PubMedCrossRef
126.
Mikkola ML, Millar SE (2006) The mammary bud as a skin appendage: unique and shared aspects of development. J Mammary Gland Biol Neoplasia 11: 187–203PubMedCrossRef
127.
Miletich I, Sharpe PT (2003) Normal and abnormal dental development. Hum Mol Genet (Spec No 1) 12: 69–73CrossRef
128.
Miletich I, Sharpe PT (2004) Neural crest contribution to mammalian tooth formation. Birth Defects Res C Embryo Today 72: 200–212PubMedCrossRef
129.
Millar SE (2002) Molecular mechanisms regulating hair follicle development. J Invest Dermatol 118: 216–225PubMedCrossRef
130.
Mitsiadis TA, Luukko K (1995) Neurotrophins in odontogenesis. Int J Dev Biol 39: 195–202PubMed
131.
Mitsiadis TA, Muramatsu T, Muramatsu H et al. (1995) Midkine (MK), a heparin-binding growth/differentiation factor, is regulated by retinoic acid and epithelial-mesenchymal interactions in the developing mouse tooth, and affects cell proliferation and morphogenesis. J Cell Biol 129: 267–281PubMedCrossRef
132.
Mitsiadis TA, Salmivirta M, Muramatsu T et al. (1995) Expression of the heparin-binding cytokines, midkine (MK) and HB-GAM (pleiotrophin) is associated with epithelial-mesenchymal interactions during fetal development and organogenesis. Development 121: 37–51PubMed
133.
Mostowska A, Kobielak A, Biedziak B et al. (2003) Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci 111: 272–276PubMedCrossRef
134.
Mostowska A, Kobielak A, Trzeciak WH (2003) Molecular basis of non-syndromic tooth agenesis: mutations of MSX1 and PAX9 reflect their role in patterning human dentition. Eur J Oral Sci 111: 365–370PubMedCrossRef
135.
Nagano T, Oida S, Ando H et al. (2003) Relative levels of mRNA encoding enamel proteins in enamel organ epithelia and odontoblasts. J Dent Res 82: 982–986PubMedCrossRef
136.
Nie X, Luukko K, Kettunen P (2006) BMP signalling in craniofacial development. Int J Dev Biol 50: 511–521PubMedCrossRef
137.
Nie X, Luukko K, Kettunen P (2006) FGF signalling in craniofacial development and developmental disorders. Oral Dis 12: 102–111PubMedCrossRef
138.
Niederreither K, McCaffery P, Drager UC et al. (1997) Restricted expression and retinoic acid-induced downregulation of the retinaldehyde dehydrogenase type 2 (RALDH-2) gene during mouse development. Mech Dev 62: 67–78PubMedCrossRef
139.
Noden DM, Schneider RA (2006) Neural crest cells and the community of plan for craniofacial development: historical debates and current perspectives. Adv Exp Med Biol 589: 1–23PubMedCrossRef
140.
Ong DE (1994) Cellular transport and metabolism of vitamin A: roles of the cellular retinoid-binding proteins. Nutr Rev 52: S24–31PubMedCrossRef
141.
Opsahl S, Septier D, Aubin I et al. (2005) Is the lingual forming part of the incisor a structural entity? Evidences from the fragilitas ossium (fro/fro) mouse mutation and the TGFbeta1 overexpressing transgenic strain. Arch Oral Biol 50: 279–286PubMedCrossRef
142.
Paine ML, Zhu DH, Luo W et al. (2000) Enamel biomineralization defects result from alterations to amelogenin self-assembly. J Struct Biol 132: 191–200PubMedCrossRef
143.
Paine ML, Wang HJ, Luo W et al. (2003) A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin over-expression. J Biol Chem 278: 19447–19452PubMedCrossRef
144.
Paine ML, Luo W, Wang HJ et al. (2005) Dentin sialoprotein and dentin phosphoprotein overexpression during amelogenesis. J Biol Chem 280:31991–31998PubMedCrossRef
145.
Papagerakis P, Peuchmaur M, Hotton D et al. (1999) Aberrant gene expression in epithelial cells of mixed odontogenic tumors. J Dent Res 78: 20–30PubMedCrossRef
146.
Papagerakis P, Berdal A, Mesbah M et al. (2002) Investigation of osteocalcin, osteonectin, and dentin sialophosphoprotein in developing human teeth. Bone 30: 377–385PubMedCrossRef
147.
Papagerakis P, MacDougall M, Hotton D et al. (2003) Expression of amelogenin in odontoblasts. Bone 32: 228–240PubMedCrossRef
148.
Parekh S, Kyriazidou A, Bloch-Zupan A et al. (2006) Multiple pulp stones and shortened roots of unknown etiology. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 101: e139–142PubMedCrossRef
149.
Perveen R, Lloyd IC, Clayton-Smith J et al. (2000) Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci 41: 2456–2460PubMed
150.
Peterkova R, Peterka M, Vonesch JL et al. (1995) Contribution of 3-D computer-assisted reconstructions to the study of the initial steps of mouse odontogenesis. Int J Dev Biol 39: 239–247PubMed
151.
Peterkova R, Lesot H, Viriot L et al. (2005) The supernumerary cheek tooth in tabby/EDA mice-a reminiscence of the premolar in mouse ancestors. Arch Oral Biol 50: 219–225PubMedCrossRef
152.
Peters H, Neubuser A, Balling R (1998) Pax genes and organogenesis: Pax9 meets tooth development. Eur J Oral Sci (Suppl 1) 106: 38–43CrossRef
153.
Peters H, Neubuser A, Kratochwil K et al. (1998) Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 12: 2735–2747PubMedPubMedCentralCrossRef
154.
155.
Philbrick WM, Dreyer BE, Nakchbandi IA et al. (1998) Parathyroid hormone-related protein is required for tooth eruption. Proc Natl Acad Sci USA 95: 11846–11851PubMedCrossRefPubMedCentral
156.
157.
158.
Plikus MV, Zeichner-David M, Mayer JA et al. (2005) Morphoregulation of teeth: modulating the number, size, shape and differentiation by tuning Bmp activity. Evol Dev 7: 440–457PubMedPubMedCentralCrossRef
159.
Rajpar MH, Harley K, Laing C et al. (2001) Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 10: 1673–1677CrossRefPubMed
160.
Rajpar MH, Koch MJ, Davies RM et al. (2002) Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet 11: 2559–2565PubMedCrossRef
161.
162.
Risnes S, Peterkova R, Lesot H (2005) Distribution and structure of dental enamel in incisors of Tabby mice. Arch Oral Biol 50: 181-184PubMedCrossRef
163.
Rossi M, Jones RL, Norbury G et al. (2003) The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. Clin Dysmorphol 12: 269–274PubMedCrossRef
164.
Ruch JV, Lesot H, Cam Y et al. (1996) Control of odontoblast differentiation: current hypothesis. Proceedings of the International Conference on Dentin/Pulp complex 1995, Japan, pp 105–111
165.
166.
Salazar-Ciudad I, Jernvall J (2002) A gene network model accounting for development and evolution of mammalian teeth. Proc Natl Acad Sci USA 99: 8116–8120PubMedCrossRefPubMedCentral
167.
Sasaki T, Ito Y, Xu X et al. (2005) LEF1 is a critical epithelial survival factor during tooth morphogenesis. Dev Biol 278: 130–143PubMedCrossRef
168.
Satokata I, Maas R (1994) Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6: 348–356PubMedCrossRef
169.
Satokata I, Ma L, Ohshima H et al. (2000) Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation. Nat Genet 24: 391–395PubMedCrossRef
170.
Savage T, Bennett T, Huang YF et al. (2006) Mandibular phenotype of p20C/EBPbeta transgenic mice: Reduced alveolar bone mass and site-specific dentin dysplasia. Bone 39: 552–564PubMedCrossRef
171.
Simmer JP, Hu JC (2002) Expression, structure, and function of enamel proteinases. Connect Tissue Res 43: 441–449PubMedCrossRef
172.
Slavkin H (1997) Craniofacial-oral-dental research in the 21st century. J Dent Res 76: 628–630PubMedCrossRef
173.
Slavkin HC (1995) Molecular biology experimental strategies for craniofacial-oral-dental dysmorphology. Connect Tissue Res 32: 233–239PubMedCrossRef
174.
Smahi A, Courtois G, Rabia SH et al. (2002) The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 11: 2371–2375PubMedCrossRef
175.
Snead ML, Paine ML, Luo W et al. (1998) Transgene animal model for protein expression and accumulation into forming enamel. Connect Tissue Res 38: 279–286; discussion 295–303PubMedCrossRef
176.
Sonnenberg E, Meyer D, Weidner KM et al. (1993) Scatter factor/hepatocyte growth factor and its receptor, the c-met tyrosine kinase, can mediate a signal exchange between mesenchyme and epithelia during mouse development. J Cell Biol 123: 223–235PubMedCrossRef
177.
Soprano DR, Blaner WS (1994) Plasma retinol-binding protein. In: Sporn MB, Roberts AB, Goodman DS (eds) The Retinoids. Biology, Chemistry and Medicine. Raven Press, New York, pp 257–282
178.
Sreenath T, Thyagarajan T, Hall B et al. (2003) Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. J Biol Chem 278: 24874–24880PubMedCrossRef
179.
Srivastava AK, Durmowicz MC, Hartung AJ et al. (2001) Ectodysplasin-A1 is sufficient to rescue both hair growth and sweat glands in Tabby mice. Hum Mol Genet 10:2973–2981PubMedCrossRef
180.
Tabata MJ, Kim K, Liu JG et al. (1996) Hepatocyte growth factor is involved in the morphogenesis of tooth germ in murine molars. Development 122: 1243–1251PubMed
181.
Tahayato A, Dolle P, Petkovich M (2003) Cyp26C1 encodes a novel retinoic acid-metabolizing enzyme expressed in the hindbrain, inner ear, first branchial arch and tooth buds during murine development. Gene Expr Patterns 3: 449–454PubMedCrossRef
182.
Thesleff I, Vaahtokari A, Partanen AM (1995) Regulation of organogenesis. Common molecular mechanisms regulating the development of teeth and other organs. Int J Dev Biol 39: 35–50PubMed
183.
Thesleff I, Jernvall J (1997) The enamel knot: a putative signaling center regulating tooth development. Cold Spring Harb Symp Quant Biol 62: 257–267PubMedCrossRef
184.
185.
Thesleff I (2000) Genetic basis of tooth development and dental defects. Acta Odontol Scand 58: 191–194PubMedCrossRef
186.
Thesleff I, Mikkola M (2002) The role of growth factors in tooth development. Int Rev Cytol 217: 93–135PubMedCrossRef
187.
Thesleff I (2003) Epithelial-mesenchymal signalling regulating tooth morphogenesis. J Cell Sci 116: 1647–1648PubMedCrossRef
188.
Thesleff I (2003) Developmental biology and building a tooth. Quintessence Int 34: 613–620PubMed
189.
Thesleff I (2006) The genetic basis of tooth development and dental defects. Am J Med Genet A 140: 2530–2535PubMedCrossRef
190.
Thomas BL, Tucker AS, Qui M et al. (1997) Role of Dlx-1 and Dlx-2 genes in patterning of the murine dentition. Development 124: 4811–4818PubMed
191.
Thyagarajan T, Totey S, Danton MJ et al. (2003) Genetically altered mouse models: the good, the bad, and the ugly. Crit Rev Oral Biol Med 14: 154–174PubMedCrossRef
192.
Tiffee JC, Xing L, Nilsson S et al. (1999) Dental abnormalities associated with failure of tooth eruption in src knockout and op/op mice. Calcif Tissue Int 65: 53–58PubMedCrossRef
193.
Tompkins K (2006) Molecular mechanisms of cytodifferentiation in mammalian tooth development. Connect Tissue Res 47: 111–118PubMedCrossRef
194.
Townsend GC, Aldred MJ, Bartold PM (1998) Genetic aspects of dental disorders. Aust Dent J 43: 269–286PubMedCrossRef
195.
Tucker A, Sharpe P (2004) The cutting-edge of mammalian development; how the embryo makes teeth. Nat Rev Genet 5: 499–508PubMedCrossRef
196.
Tucker AS, Sharpe PT (1999) Molecular genetics of tooth morphogenesis and patterning: the right shape in the right place. J Dent Res 78: 826–834PubMedCrossRef
197.
Tucker AS, Yamada G, Grigoriou M et al. (1999) Fgf-8 determines rostral-caudal polarity in the first branchial arch. Development 126: 51–61PubMed
198.
Tucker AS, Headon DJ, Schneider P et al. (2000) Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis. Development 127: 4691–4700PubMed
199.
Vaahtokari A, Aberg T, Jernvall J et al. (1996) The enamel knot as a signaling center in the developing mouse tooth. Mech Dev 54: 39–43PubMedCrossRef
200.
Vainio S, Karavanova I, Jowett A et al. (1993) Identification of BMP-4 as a signal mediating secondary induction between epithelial and mesenchymal tissues during early tooth development. Cell 75: 45–58PubMedCrossRef
201.
Vieira H, Gregory-Evans K, Lim N et al. (2002) First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1. Invest Ophthalmol Vis Sci 43: 2540–2545PubMed
202.
Wakeling EL, Dattani MT, Bloch-Zupan A et al. (2003) Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. Clin Dysmorphol 12: 105–107PubMedCrossRef
203.
Wang X, Thesleff I (2006) Tooth development. In: Unsicker K, Krieglstein K (eds) Cell signalling and growth factors in development. Wiley-VCH, Weinheim, pp 719–754
204.
Wang XP, Suomalainen M, Jorgez CJ et al. (2004) Follistatin regulates enamel patterning in mouse incisors by asymmetrically inhibiting BMP signaling and ameloblast differentiation. Dev Cell 7: 719–730PubMedCrossRef
205.
Weerheijm KL (2003) Molar incisor hypomineralisation (MIH). Eur J Paediatr Dent 4: 114–120PubMed
206.
Weerheijm KL, Duggal M, Mejara I et al. (2003) Judgement criteria for molar incisor hypomineralisation (MIH) in epidemiologic studies: a summary of the European meeting on MIH held in Athens, 2003. Eur J Paed Dent 4: 110–113
207.
Werner SA, Gluhak-Heinrich J, Woodruff K et al. (2007) Targeted expression of csCSF-1 in op/op mice ameliorates tooth defects. Arch Oral Biol 52: 432–443PubMedCrossRef
208.
White SN, Paine ML, Ngan AY et al. (2007) Ectopic expression of dentin sialoprotein during amelogenesis hardens bulk enamel. J Biol Chem 282: 5340–5345PubMedCrossRef
209.
210.
Wise GE, Lumpkin SJ, Huang H et al. (2000) Osteoprotegerin and osteoclast differentiation factor in tooth eruption. J Dent Res 79: 1937–1942PubMedCrossRef
211.
Wolf NI, Harting I, Innes AM et al. (2007) Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. Neuropediatrics 38: 64–70CrossRefPubMed
212.
213.
Xu X, Bringas P Jr, Soriano P et al. (2005) PDGFR-alpha signaling is critical for tooth cusp and palate morphogenesis. Dev Dyn 232: 75–84PubMedCrossRef
214.
Ye L, Le TQ, Zhu L et al. (2006) Amelogenins in human developing and mature dental pulp. J Dent Res 85: 814–818PubMedCrossRef
215.
Yoda S, Suda N, Kitahara Y et al. (2004) Delayed tooth eruption and suppressed osteoclast number in the eruption pathway of heterozygous Runx2/Cbfa1 knockout mice. Arch Oral Biol 49: 435–442PubMedCrossRef
216.
Yokohama-Tamaki T, Ohshima H, Fujiwara N et al. (2006) Cessation of Fgf10 signaling, resulting in a defective dental epithelial stem cell compartment, leads to the transition from crown to root formation. Development 133: 1359–1366PubMedCrossRef
217.
Zhang X, Zhao J, Li C et al. (2001) DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet 27: 151–152PubMedCrossRef
Metadaten
Titel
Genetische Störungen der Zahnentwicklung und Dentition
verfasst von
Dr. A. Bloch-Zupan, DChD, PhD, HDR, MCU-PH, Oral biology
Publikationsdatum
01.12.2007
Verlag
Springer Berlin Heidelberg
Erschienen in
medizinische genetik / Ausgabe 4/2007
Print ISSN: 0936-5931
Elektronische ISSN: 1863-5490
DOI
https://doi.org/10.1007/s11825-007-0050-2

Weitere Artikel der Ausgabe 4/2007

medizinische genetik 4/2007 Zur Ausgabe

Schwerpunktthema: Zahnentwicklung und Zahnanomalien in der Humangenetik

Taurodontismus und Klinefelter-Syndrom

Schwerpunktthema: Zahnentwicklung und Zahnanomalien in der Humangenetik

Entwicklung der Zähne

Schwerpunktthema: Zahnentwicklung und Zahnanomalien in der Humangenetik

Okulodentodigitale Dysplasie

Einführung zum Themenschwerpunkt

Zahnentwicklung und Zahnanomalien in der Humangenetik

Mitteilungen

Mitteilungen des BVDH, Heft 4/2007

Leitlinien

Zytogenetische Labordiagnostik