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    AMELX amelogenin X-linked [ Homo sapiens (human) ]

    Gene ID: 265, updated on 9-Dec-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.

    AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
    Wang SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC., Free PMC Article

    07/17/2024
    AMELX gene association to early childhood caries in south-Indian children: a case-control study.

    AMELX gene association to early childhood caries in south-Indian children: a case-control study.
    Sharma A, Muthu MS, Vettriselvi V, Nuvvula S, Gayathri T.

    05/1/2024
    Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.

    Mutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.
    Shemirani R, Le MH, Nakano Y., Free PMC Article

    03/21/2024
    Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

    Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
    Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H., Free PMC Article

    03/14/2024
    TRAP was found to augment chondrogenic differentiation of HACs via induction of SOX9 gene expression when cells were cultured in pro-chondrogenic media.

    Differential effects of tyrosine-rich amelogenin peptide on chondrogenic and osteogenic differentiation of adult chondrocytes.
    Amin HD, Ethier CR., Free PMC Article

    12/4/2023
    An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.

    An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.
    Leban T, Trebušak Podkrajšek K, Kovač J, Fidler A, Pavlič A., Free PMC Article

    08/6/2022
    family study of a novel AMELX mutation with skewed X chromosome inactivation causing hypoplastic and hypomineralized amelogenesis imperfecta

    A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.
    Duan X, Yang S, Zhang H, Wu J, Zhang Y, Ji D, Tie L, Boerkoel CF.

    07/18/2020
    AMELX and ODAM variations was not different between two populations of schoolchildren with respect to dental fluorosis (DF) severity; however, the presence of rs1784418 differed between phenotypes with regard to susceptibility to DF. Therefore, MMP20 might be related to the various phenotypes of DF

    DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental fluorosis.
    Tremillo-Maldonado O, Molina-Frechero N, González-González R, Damián-Matsumura P, Sánchez-Pérez L, Sicco E, Suarez M, Bologna-Molina R.

    02/8/2020
    High AMEL expression is associated with Aggressiveness in Odontogenic Tumors.

    Amelogenin is a Potential Biomarker for the Aggressiveness in Odontogenic Tumors.
    Zakaraia S, Almohareb M, Zaid K, Doumani M, Seirawan MY., Free PMC Article

    10/20/2018
    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
    To the best of our knowledge, this is the first report of expression of human amelogenin in plants, offering the possibility to use this plant-made protein for nanotechnological applications.

    Cloning and Expression Analysis of Human Amelogenin in Nicotiana benthamiana Plants by Means of a Transient Expression System.
    Pegoraro M, Matić S, Pergolizzi B, Iannarelli L, Rossi AM, Morra M, Noris E.

    07/14/2018
    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
    a single-nucleotide polymorphism in the amelogenin gene using amplified product-length polymorphisms in combination with sex-determining region Y analysis, is reported.

    Sex Determination from Fragmented and Degenerated DNA by Amplified Product-Length Polymorphism Bidirectional SNP Analysis of Amelogenin and SRY Genes.
    Masuyama K, Shojo H, Nakanishi H, Inokuchi S, Adachi N., Free PMC Article

    08/12/2017
    Full-length amelogenin may have a negative mitogenic impact on human dental pulp stem cells.

    Full-length amelogenin influences the differentiation of human dental pulp stem cells.
    Frasheri I, Ern C, Diegritz C, Hickel R, Hristov M, Folwaczny M., Free PMC Article

    10/22/2016
    suggestive overrepresentation of TT genotype of amelogenin marker in cases w/severe erosion when compared to no dentine erosion. Amelogenin also associated with severe erosion in recessive model; TT genotype significantly more frequent in affected group

    Enamel formation genes associated with dental erosive wear.
    Søvik JB, Vieira AR, Tveit AB, Mulic A.

    07/30/2016
    Studies indicate that a single point mutation (41Pro-->Thr) in the amelogenin gene causes severe dental enamel malformation known as amelogenesis imperfect.

    Amelogenin in Enamel Tissue Engineering.
    Uskoković V., Free PMC Article

    04/16/2016
    sequencing data showed presence of mutation. Samples showing mutation (43.3%) showed high correlation with caries (80.7%) experience which was statistically significant.

    Association of Amelogenin with High Caries Experience in Indian Children.
    Saha R, Sood PB, Sandhu M, Diwaker A, Upadhyaye S.

    01/16/2016
    silent mutation in exon 4 of AMELX gene. generating and characterizing transgenic animal model, alteration of the ratio and quantity of the developmentally conserved alternative splicing repertoire of AMELX caused defects in enamel matrix mineralization.

    Alteration of conserved alternative splicing in AMELX causes enamel defects.
    Cho ES, Kim KJ, Lee KE, Lee EJ, Yun CY, Lee MJ, Shin TJ, Hyun HK, Kim YJ, Lee SH, Jung HS, Lee ZH, Kim JW., Free PMC Article

    01/10/2015
    Conversion to amelogenin expressing dental epithelial cells involved an up-regulation of the stem cell marker Sox2 and proliferation genes and decreased expression of mesenchymal markers

    A pituitary homeobox 2 (Pitx2):microRNA-200a-3p:β-catenin pathway converts mesenchymal cells to amelogenin-expressing dental epithelial cells.
    Sharp T, Wang J, Li X, Cao H, Gao S, Moreno M, Amendt BA., Free PMC Article

    12/20/2014
    the interaction of amelogenin with Grp78/Bip contributed to cell proliferation, rather than correlate with the osteogenic differentiation

    Identification of novel amelogenin-binding proteins by proteomics analysis.
    Fukuda T, Sanui T, Toyoda K, Tanaka U, Taketomi T, Uchiumi T, Nishimura F., Free PMC Article

    05/31/2014
    demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci

    Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.
    Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE.

    05/17/2014
    Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (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.

    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
    The 21 non-CODIS STR loci of the Russian ethnic minority group were characterized by high genetic diversity and therefore may be useful for elucidating the population's genetic background, for individual identification.

    Allelic frequency distributions of 21 non-combined DNA index system STR loci in a Russian ethnic minority group from Inner Mongolia, China.
    Wang HD, Shen CM, Liu WJ, Zhang YD, Yang G, Yan JW, Qin HX, Zhu BF., Free PMC Article

    01/18/2014
    Deletion of AMELX results in males with a characteristic snow-capped enamel phenotype.

    Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.
    Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, Milkovich RN, Estrella NM, Yildirim M, Bayram M, Chen CF, Simmer JP., Free PMC Article

    09/7/2013
    Evolutionary and statistical analyses showed that none of the SNPs identified in this study were associated with caries susceptibility, suggesting that AMELX is not a gene candidate in our studied population.

    Common SNPs of AmelogeninX (AMELX) and dental caries susceptibility.
    Gasse B, Grabar S, Lafont AG, Quinquis L, Opsahl Vital S, Davit-Béal T, Moulis E, Chabadel O, Hennequin M, Courson F, Droz D, Vaysse F, Laboux O, Tassery H, Al-Hashimi N, Boillot A, Carel JC, Treluyer JM, Jeanpierre M, Beldjord C, Sire JY, Chaussain C.

    06/29/2013
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