Abstract:
:Defects in the enamelin gene (ENAM) cause amelogenesis imperfecta (AI). Our objective was to identify the genetic etiology of enamel hypoplasia in a Caucasian proband. Our hypothesis was that ENAM was defective. The proband and his father have an AG insertion (g.13185_13186insAG; p.422FsX448) in ENAM previously identified in AI kindreds from Slovenia and Turkey. The proband, his brother, and his mother have a novel missense mutation (g.12573C>T) that substitutes leucine for a phosphorylated serine (p.S216L) in the 32-kDa enamelin cleavage product. In this family, a defect in one ENAM allele caused minor pitting or localized enamel hypoplasia, whereas defects in both alleles caused severe enamel malformations, with little or no mineral covering dentin. Ser(216) is one of two serines on the 32-kDa enamelin that is phosphorylated by Golgi casein kinase and is thought to mediate calcium binding. We propose that phosphorylation of enamelin is critical for its function.
journal_name
J Dent Resjournal_title
Journal of dental researchauthors
Chan HC,Mai L,Oikonomopoulou A,Chan HL,Richardson AS,Wang SK,Simmer JP,Hu JCdoi
10.1177/0022034510365662subject
Has Abstractpub_date
2010-07-01 00:00:00pages
695-9issue
7eissn
0022-0345issn
1544-0591pii
0022034510365662journal_volume
89pub_type
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journal_title:Journal of dental research
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abstract::Levels of mutans streptococci in plaque samples from margins of Class II amalgam (Dispersalloy), composite (P-10), and glass-ionomer (Ketac Silver) restorations were compared. Fifty-one children, each having one of the restorations in a permanent first molar, were part of an inter-individual comparison, giving 17 rest...
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journal_title:Journal of dental research
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journal_title:Journal of dental research
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pub_type: 临床试验,杂志文章,随机对照试验
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abstract::The objectives of the study were to describe the oral health status and treatment needs of the 5- to 6-year-old and 12-year-old children in Southern China; to describe the patterns of oral health behaviors, knowledge, and attitudes among the 12-year-olds; and to assess the effects of socio-behavioral factors on the 12...
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abstract::An infrared spectroscopic study has been made of the development of crystallinity (hopeite) in dental zinc phosphate cements. Crystallization in the bulk of a cement is prevented only by the incorporation, in the liquid, of aluminum which forms complexes with phosphoric acid. The development of surface crystallinity i...
journal_title:Journal of dental research
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journal_title:Journal of dental research
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abstract::The molecular mechanisms that maintain the equilibrium of odontoblast progenitor cells in dental pulp are unknown. Here we tested whether homeostasis in dental pulp is modulated by Twist-1, a nuclear protein that partners with Runx2 during osteoblast differentiation. Our analysis of Twist-1(+/-) mice revealed phenotyp...
journal_title:Journal of dental research
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