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Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates.
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The ENAM and TNF-alpha (show TNF Antibodies) genes were likely associated with caries occurrence in Chinese children. The ENAM rs3796703 CT and TNF-alpha (show TNF Antibodies) rs1800629 AG genotypes might be involved in caries susceptibility and protection, respectively.
Among the variants shared with modern humans, two are ancestral (common with apes) and one is the derived enamelin major variant, T648I (rs7671281), associated with a thinner enamel and specific to the Homo lineage.
The study revealed the strong association between rs12640848 marker of ENAM gene and caries susceptibility in primary teeth in children from Poland.
Overrepresentation of the G allele of the enamelin marker was seen in the erosion group compared to the unaffected group.
Screening of ENAM and LAMB3 (show LAMB3 Antibodies) genes was performed by direct sequencing of genomic DNA from blood samples.
findings provide useful information for the implication of ENAM gene polymorphism in autosomal-dominant/-recessive amelogenesis imperfecta.
Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene (c.454G>T p.Glu152* in family 1, c.358C>T p.Gln120* in family 2) in the probands. Affected individuals were heterozygous for the mutation in each family.
2 exonic SNPs, both changing an amino acid in protein region encoded by exon 10 (p.I648T and p.R763Q), increased caries susceptibility 2.66-fold. findings support ENAM as gene candidate for caries susceptibility.
Associations between TFIP11 (show TFIP11 Antibodies) (p=0.02), ENAM (p=0.00001), and AMELX (show AMELX Antibodies) (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample.
Mutations in FAM83H (show FAM83H Antibodies) and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta.
Data suggest that a specific quantity of enamelin is critical for normal enamel formation.
enamelin genotype, which affects enamel integrity, and food hardness influence bodyweight gain in postnatal and young adult mice
The enamelin mutation was associated with earlier forming enamel defects.The study supported the critical involvement of amelogenin (show AMELX Antibodies) and enamelin in enamel mineralization.
enamelin acts as an adhesion molecule (show NCAM1 Antibodies) and is involved in ameloblast cell differentiation during the early stages of tooth development
The results suggested that Wnt (show WNT2 Antibodies)/beta-catenin (show CTNNB1 Antibodies) signaling could function in enamelin gene expression by direct interaction through two conserved LEF1 (show LEF1 Antibodies) responsive elements on the enamelin gene in ameloblast-like cells.
the amelogenesis imperfecta phenotype is linked to a C > T transition in exon 8 of the enamelin gene
enamelin is essential for proper enamel matrix organization and mineralization
new insights into regulatory mechanisms governing enamelin expression
This study provides new insights into the molecular control of Enam cell- and stage-specific expression.
Mice lacking expression of the AmelX (show AMELX Antibodies), Enam and Mmp20 (show MMP20 Antibodies) genes have been generated.
Results demonstrate that the 32 kDa enamelin has a direct interaction with amelogenin (show AMELX Antibodies) in vitro.
Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.
, amelogenesis imperfecta 2, hypocalcification (autosomal dominant)