Review is Amelogenesis Imperfecta a signal of systemic disorders? A brief review of literature

Yıl 2012, Cilt: 5 Sayı: 1, 49 - 54, 01.03.2012

Gamze Aren Didem Oner Ozdas Sevgi Erismis Zorlu

Öz

Anahtar Kelimeler

-

Kaynakça

• Witkop CJ. Amelogenesis imperfecta, dentinogenesis
• imperfecta and dentin dysplasia revisited, problems in
• classification. J Oral Pathol 1988;17:547-53.
• Gorlin RJ, Cohen JM, Hennekam RCM. Syndromes with Unusual Dental Findings. In:Syndromes of the Head and Neck. 4th ed. New York: Oxford University Pres. 2001;1107-32.
• Bei M. Molecular genetics of ameloblast cell lineage. J Exp Zool (Mol Dev Evol) 2009;312B:437-44.
• Papagerakis P, Hu Y, Ye L, Feng JQ, Simmer JP, Hu JCC. Identifying promoter elements necessary for enamelin tissue- specific expression. Cells Tissues Organs 2009;189:98-104.
• Aren G,Ozdemir D, Firatli S, Uygur C, Sepet E, Firatli E. Evaluation of oral and systemic manifestations in an amelogenesis imperfecta population. J Dent 2003;31:585-91.
• Becerik S, Cogulu D, Emingil G, Han T, Hart PS, Hart TC.Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis. Am J Med Genet 2009;149A:1392-8.
• Aldred MJ, Crawford PJM. Amelogenesis imperfecta-towards a new classification. Oral Dis 1995;1:2-5.
• Escobar VH,Goldblatt LI, Bixler D. A clinical, genetic and ultrastructural study of snow-capped teeth:amelogenesis imperfecta, hypomaturation type. Oral Surg 1981;52:607-14.
• Rowley R, Hill FJ, Winter GB. An investigation of the association between anterior open bite and amelogenesis imperfecta. Am J Orthod 1982;81:229-35.
• Cartwright AR, Kula K, Wright JT. Craniofacial features associated with amelogenesis imperfecta. J Craniofac Genet Dev Biol1999;19:148-56.
• Wright JT. Analysis of a kindred with amelogenesis imperfecta. J Oral Pathol 1985;14:366-76.
• Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 2003;40:900-6.
• El Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y et al. Mutations in the Beta propeller WDR72 causeautosomal- recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 2009;85:699-705.
• Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R,Gonzales-Quevedo C,et al. A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Hum Genet 2007; 120:653-62.
• Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, et al. Human and Mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4. Cells Tissues Organs 2009;189:224-29.
• Kim JW, Seymen F, Lin BPJ, Kiziltan B, Gencay K, Simmer JP, mutations amelogenesis imperfecta. J Dent Res 2005;84(3):278-82.
• Barron MJ, Brookes SJ, Kirkham J, Shore RC, Hunt C, Mironov in autosomal-dominant A, et al. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. Hum Mol Genet 2010;19(7):1230-47.
• Hart PS, Aldred MJ, Crawford PJM, Wright NJ, Hart TJ, Wright JT. Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. Arch Oral Biol 2002;47:261-5.
• Chan HC, Mai L, Oikonomopoulou A, Chan HL, Richardson AS, Wang SK, et al. Altered enamelin phosphorylation site causes amelogenesis doi:10.1177/0022034510365662. J Dent Res 2010;
• Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, et al. Mutations in CNNM4 cause Jalili Syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 2009;84:266-73.
• Hobson GM, Gibson CW, Aragon M, Yuan Z, Davis- Williams A, Banser L, et al. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis 2009;149A:1698-1705. (XAI). imperfecta Am J Med Genet
• Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I,et al. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet 2009; 84:259-65.
• Takamori K, Hosokawa R, Xu X, Deng X, Bringas Jr P, Chai Y. Epithelial fibroblast growth factor receptor 1 regulates enamel formation. J Dent Res 2008;87(3):238-43.
• Jaskoll T, Abichaker G, Htet K, Bringas Jr P, Morita S, Sedghizadeh PP, et al. Cytomegalovirus induces stage dependent enamel defects and misexpression of amelogenin, enamelin and dentin sialophosphoprotein in developing mouse molars. Cells Tissues Organs 2010; doi:10.1159/000314909.
• Hu JC, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis 2003;14(6):387-98. Crit Rev Oral Biol Med
• Chaudhary M, Dixit S, Singh A, Kunte S. Amelogenesis imperfecta: report of case and review of literature. J Oral Max Pathol 2009; 13:70-7.
• Kida M, Arigava T, Shirakawa T, Oguchi H, Sakiyama Y. hypoplastic Autosomal-dominant imperfecta caused by an enamelin gene mutation at the exon- intron boundary. J Dent Res 2002;81(11):738-42. form of amelogenesis
• Aldred M, Crawford P, King N, Cameron A, Widmer R, Seow K, Hall R. Dental anomalies. In:Cameron AC, Widmer RP . Handbook of Pediatric Dentistry. 2nd ed. Edinburg:Mosby, 2003:213-9.
• Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred of nomenclature. Arch Oral Biol 2003;48:589-96. a standardized ENAM
• Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 2004;41:545-49.