Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. | Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Hany U, Watson CM, Liu L, Nikolopoulos G, Smith CEL, Poulter JA, Brown CJ, Patel A, Rodd HD, Balmer R, Harfoush A, Al-Jawad M, Inglehearn CF, Mighell AJ., Free PMC Article | 01/3/2024 |
Ameloblastin is critical for the initiation of enamel ribbon formation, and its absence results in pathological mineralization within the enamel organ epithelia. | AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity. Liang T, Hu Y, Smith CE, Richardson AS, Zhang H, Yang J, Lin B, Wang SK, Kim JW, Chun YH, Simmer JP, Hu JC., Free PMC Article | 06/20/2020 |
Single nucleotide polymorphisms in the AMELX and AMBN genes may be genetic variants that contribute to developmental defects of enamel in primary dentition of Polish children. | Significance of genetic variations in developmental enamel defects of primary dentition in Polish children. Gerreth K, Zaorska K, Zabel M, Nowicki M, Borysewicz-Lewicka M., Free PMC Article | 09/8/2018 |
the calcium level was associated with genetic variations in AMELX, AMNB and ESRRB. AMELX and AMNB are involved in enamel mineralization. Mutations in both these genes are responsible for the amelogenesis imperfecta phenotype (OMIN), which supports their link with enamel alterations as well as enamel mineralization. | Genes Involved in the Enamel Development Are Associated with Calcium and Phosphorus Level in Saliva. Küchler EC, Pecharki GD, Castro ML, Ramos J, Barbosa F Jr, Brancher JA, Vieira AR, Gerlach RF, Trevilatto PC., Free PMC Article | 06/30/2018 |
these results indicate that AMBN enhances IL-1beta production in LPS-treated U937 cells through ERK1/2 phosphorylation and caspase-1 activation, suggesting that AMBN upregulates the inflammatory response in human macrophages and plays an important role in innate immunity. | Ameloblastin Upregulates Inflammatory Response Through Induction of IL-1β in Human Macrophages. Otsuka M, Okinaga T, Ariyoshi W, Kitamura C, Nishihara T. | 12/23/2017 |
Association between caries experience (caries-free versus caries affected) depending on asthma status and SNPs was tested. Logistic regression showed an association between AMBN rs4694075 and caries experience. Ameloblastin is associated w/caries in asthmatic children. | Genetic variation in Ameloblastin is associated with caries in asthmatic children. Ergöz N, Seymen F, Gencay K, Tamay Z, Deeley K, Vinski S, Vieira AR., Free PMC Article | 11/12/2016 |
Protein interaction between Ambn and Psma3 can facilitate redistribution of ameloblastin domains within forming enamel. | Protein Interaction between Ameloblastin and Proteasome Subunit α Type 3 Can Facilitate Redistribution of Ameloblastin Domains within Forming Enamel. Geng S, White SN, Paine ML, Snead ML., Free PMC Article | 11/28/2015 |
Authors perform an evolutionary analysis of mammalian AMBN sequences in order to predict functionally important sites of the protein and to identify candidate disease-associated mutations responsible for the protein function and identify AMBN as a candidate for amelogenesis imperfect in humans. | Evolutionary analysis of selective constraints identifies ameloblastin (AMBN) as a potential candidate for amelogenesis imperfecta. Delsuc F, Gasse B, Sire JY., Free PMC Article | 10/3/2015 |
Report shows for the first time that AMBN mutations cause non-syndromic human amelogenesis imperfecta and confirms that mouse models with disrupted Ambn function are valid. | Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ., Free PMC Article | 06/6/2015 |
two genetic variants (rs2337359 upstream of TUFT1 and missense rs7439186 in AMBN) involved in gene-by-fluoride interactions. | Effects of enamel matrix genes on dental caries are moderated by fluoride exposures. Shaffer JR, Carlson JC, Stanley BO, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML., Free PMC Article | 04/18/2015 |
We found a trend for association between variation in AMBN and MIH in both cohorts, which may suggest that variation in the regulation of AMBN is a mechanism that leads to MIH. | Genes expressed in dental enamel development are associated with molar-incisor hypomineralization. Jeremias F, Koruyucu M, Küchler EC, Bayram M, Tuna EB, Deeley K, Pierri RA, Souza JF, Fragelli CM, Paschoal MA, Gencay K, Seymen F, Caminaga RM, dos Santos-Pinto L, Vieira AR., Free PMC Article | 04/26/2014 |
AMBN ribbons exhibited lengths ranging from tens to hundreds of nm. Deletion analysis and NMR spectroscopy revealed that N-terminal segment encoded by exon 5 comprises two short independently structured regions and plays a role in self-assembly of AMBN | Intrinsically disordered enamel matrix protein ameloblastin forms ribbon-like supramolecular structures via an N-terminal segment encoded by exon 5. Wald T, Osickova A, Sulc M, Benada O, Semeradtova A, Rezabkova L, Veverka V, Bednarova L, Maly J, Macek P, Sebo P, Slaby I, Vondrasek J, Osicka R., Free PMC Article | 10/26/2013 |
AMBN does not influence osteogenic activity in vitro under the conditions used | Ameloblastin is not implicated in bone remodelling and repair. Kuroda S, Wazen R, Sellin K, Tanaka E, Moffatt P, Nanci A. | 12/31/2011 |
Findings suggest a role for this protein in early bone formation and repair. | Ameloblastin expression and putative autoregulation in mesenchymal cells suggest a role in early bone formation and repair. Tamburstuen MV, Reseland JE, Spahr A, Brookes SJ, Kvalheim G, Slaby I, Snead ML, Lyngstadaas SP., Free PMC Article | 05/7/2011 |
ameloblastin is expressed in osteoblasts and functions as a promoting factor for osteogenic differentiation via a novel pathway through the interaction between CD63 and integrin beta1 | Ameloblastin regulates osteogenic differentiation by inhibiting Src kinase via cross talk between integrin beta1 and CD63. Iizuka S, Kudo Y, Yoshida M, Tsunematsu T, Yoshiko Y, Uchida T, Ogawa I, Miyauchi M, Takata T., Free PMC Article | 03/5/2011 |
found to induce, directly and indirectly, signal transducer and activator of transcription (STAT) 1 and 2 and downstream factors in the interferon pathway | Ameloblastin promotes bone growth by enhancing proliferation of progenitor cells and by stimulating immunoregulators. Tamburstuen MV, Reppe S, Spahr A, Sabetrasekh R, Kvalheim G, Slaby I, Syversen U, Lyngstadaas SP, Reseland JE. | 01/1/2011 |
The identification of a fibronectin-binding domain in ameloblastin might permit interesting applications for dental implantology. | Identification of a fibronectin interaction site in the extracellular matrix protein ameloblastin. Beyeler M, Schild C, Lutz R, Chiquet M, Trueb B. | 05/10/2010 |
The frequently detected AMBN alterations in ameloblastomas are polymorphisms, which appear to be unrelated to the occurrence of ameloblastomas. | [Mutation and polymorphism of the ameloblastin gene in ameloblastomas]. Niu CH, Li TJ. | 01/21/2010 |
Mutation of ameloblastin gene is associated with calcifying epithelial odontogenic tumor. | Mutation of ameloblastin gene in calcifying epithelial odontogenic tumor. Perdigão PF, Carvalho VM, DE Marco L, Gomez RS. | 01/21/2010 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Enamel formation genes are associated with high caries experience in Turkish children. Patir A, Seymen F, Yildirim M, Deeley K, Cooper ME, Marazita ML, Vieira AR., Free PMC Article | 09/24/2008 |
a bipolar calcium-binding molecule [with] a possible role in protein-protein interactions | Bioinformatic analysis and molecular modelling of human ameloblastin suggest a two-domain intrinsically unstructured calcium-binding protein. Vymetal J, Slabý I, Spahr A, Vondrásek J, Lyngstadaas SP. | 01/21/2010 |