Histological and immunohistochemical analyses of molar tooth germ in enamelin-deficient mouse

Sawada, Takashi; Sekiguchi, Hiroshi; Uchida, Takashi; Yamashita, Haruto; Shintani, Seikou; Yanagisawa, Takaaki

doi:10.1016/j.acthis.2010.05.007

Cited by 9 publications

(10 citation statements)

References 18 publications

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“…In one case where the enamel was extremely thin and smooth, there was also defective eruption and coronal resorption (40), which we hypothesize was caused by secondary pathology in the enamel organ. The ameloblast layer becomes increasingly pathological as amelogenesis progresses in the absence of a true enamel layer in the Enam null mice (41, 42).…”

Section: Discussionmentioning

confidence: 99%

Target gene analyses of 39 amelogenesis imperfecta kindreds

Chan

Estrella

Milkovich

et al. 2011

European J Oral Sciences

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Previously, mutational analyses identified six disease-causing mutations in 24 amelogenesis imperfecta (AI) kindreds. We have since expanded the number of AI kindreds to 39, and performed mutation analyses covering the coding exons and adjoining intron sequences for the six proven AI candidate genes [amelogenin (AMELX), enamelin (ENAM), family with sequence similarity 83, member H (FAM83H), WD repeat containing domain 72 (WDR72), enamelysin (MMP20), and kallikrein-related peptidase 4 (KLK4)] and for ameloblastin (AMBN) (a suspected candidate gene). All four of the X-linked AI families (100%) had disease-causing mutations in AMELX, suggesting that AMELX is the only gene involved in the aetiology of X-linked AI. Eighteen families showed an autosomal-dominant pattern of inheritance. Disease-causing mutations were identified in 12 (67%): eight in FAM83H, and four in ENAM. No FAM83H coding-region or splice-junction mutations were identified in three probands with autosomal-dominant hypocalcification AI (ADHCAI), suggesting that a second gene may contribute to the aetiology of ADHCAI. Six families showed an autosomal-recessive pattern of inheritance, and disease-causing mutations were identified in three (50%): two in MMP20, and one in WDR72. No disease-causing mutations were found in 11 families with only one affected member. We conclude that mutation analyses of the current candidate genes for AI have about a 50% chance of identifying the disease-causing mutation in a given kindred.

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Section: Discussionmentioning

confidence: 99%

Target gene analyses of 39 amelogenesis imperfecta kindreds

Chan

Estrella

Milkovich

et al. 2011

European J Oral Sciences

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“…In that sense, despite the fact that reports on the role of enamel matrix proteins other than amelogenin in the enamel formation are comparatively scarce (Wang et al 2005), evidence exists of the essentiality of macromolecular species present in minor amounts in the developing and maturating enamel matrix for the proper formation of the tissue. For example, mutations on the enamelin gene resulted in severe phenotypic amelogenesis imperfecta (Sawada et al 2011; Lindemeyer and Gibson 2010; Masuya et al 2005), demonstrating its essential role in the process of amelogenesis. Although its low concentration in the enamel matrix could easily trick us into thinking that we could do without it as well, this need not be necessarily so.…”

Section: 7 the Role Of Other Protein Species Fluoride Ph Water mentioning

confidence: 99%

Amelogenin in Enamel Tissue Engineering

Uskoković

2015

Engineering Mineralized and Load Bearing Tissues

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In this chapter the basic premises, the recent findings and the future challenges in the use of amelogenin for enamel tissue engineering are being discoursed on. Results emerging from the experiments performed to assess the fundamental physicochemical mechanisms of the interaction of amelogenin, the main protein of the enamel matrix, and the growing crystals of apatite, are mentioned, alongside a moderately comprehensive literature review of the subject at hand. The clinical importance of understanding this protein/mineral interaction at the nanoscale are highlighted as well as the potential for tooth enamel to act as an excellent model system for studying some of the essential aspects of biomineralization processes in general. The dominant paradigm stating that amelogenin directs the uniaxial growth of apatite crystals in enamel by slowing down the growth of (hk0) faces on which it adheres is being questioned based on the results demonstrating the ability of amelogenin to promote the nucleation and crystal growth of apatite under constant titration conditions designed to mimic those present in the developing enamel matrix. The role of numerous minor components of the enamel matrix is being highlighted as essential and impossible to compensate for by utilizing its more abundant ingredients only. It is concluded that the three major aspects of amelogenesis outlined hereby – (1) the assembly of amelogenin and other enamel matrix proteins, (2) the proteolytic activity, and (3) crystallization – need to be in precise synergy with each other in order for the grounds for the proper imitation of amelogenesis in the lab to be created.

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“…Mutações nos genes de proteínas e proteases do esmalte são associadas à malformação dentária (Hu et al 2005, Bartlett et al 2006, Hu e Simmer 2007, Kapadia et al 2007, Wright et al 2009, Sawada et al 2010). …”

Section: Genética Da Amelogêneseunclassified

“…O gene da enamelina foi mapeado no cromossomo quatro e somente 15 kb o separam do gene da ameloblastina, sugerindo que essa região contém um conjunto de genes codificadores das proteínas do esmalte (Mardh et al 2002). Recente estudo mostrou que, como a ameloblastina, a enamelina atua como uma molécula de adesão e suporte na diferenciação dos ameloblastos (Sawada et al 2010).…”

Section: Genética Da Amelogêneseunclassified

Estudo genético da mutação do gene AMELX na malformação dentária de pacientes com e sem fissura labiopalatina

Oliveira¹

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Histological and immunohistochemical analyses of molar tooth germ in enamelin-deficient mouse

Cited by 9 publications

References 18 publications

Target gene analyses of 39 amelogenesis imperfecta kindreds

Target gene analyses of 39 amelogenesis imperfecta kindreds

Amelogenin in Enamel Tissue Engineering

Estudo genético da mutação do gene AMELX na malformação dentária de pacientes com e sem fissura labiopalatina

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