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Page 1
Amelogenesis imperfecta.
Crawford PJ, Aldred M, Bloch-Zupan A. Crawford PJ, et al. Orphanet J Rare Dis. 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. Orphanet J Rare Dis. 2007. PMID: 17408482 Free PMC article. Review.
In families with an X-linked form it has been shown that the disorder may result from mutations in the amelogenin gene, AMELX. The enamelin gene, ENAM, is implicated in the pathogenesis of the dominant forms of AI. Autosomal recessive AI has been reported in familie …
In families with an X-linked form it has been shown that the disorder may result from mutations in the amelogenin gene, AMELX. The enamel …
Enamelin and autosomal-dominant amelogenesis imperfecta.
Hu JC, Yamakoshi Y. Hu JC, et al. Crit Rev Oral Biol Med. 2003;14(6):387-98. doi: 10.1177/154411130301400602. Crit Rev Oral Biol Med. 2003. PMID: 14656895 Review.
The two most abundant non-amelogenin enamel proteins are ameloblastin and enamelin, which are expressed from the AMBN and ENAM genes, respectively. The human AMBN and ENAM genes are located on chromosome 4q13.2. ...The discovery of mutations in the ENAM …
The two most abundant non-amelogenin enamel proteins are ameloblastin and enamelin, which are expressed from the AMBN and ENAM …
ENAM mutations and digenic inheritance.
Zhang H, Hu Y, Seymen F, Koruyucu M, Kasimoglu Y, Wang SK, Wright JT, Havel MW, Zhang C, Kim JW, Simmer JP, Hu JC. Zhang H, et al. Mol Genet Genomic Med. 2019 Oct;7(10):e00928. doi: 10.1002/mgg3.928. Epub 2019 Sep 2. Mol Genet Genomic Med. 2019. PMID: 31478359 Free PMC article.
Enamel formed in Enam(+/+) Ambn(+/+) , Enam(+/-) , Ambn(+/-) , and Enam(+/-) Ambn(+/-) mice was characterized by dissection and backscattered scanning electron microscopy (bSEM). ...CONCLUSION: Novel ENAM mutations causing AI were identified, raising t …
Enamel formed in Enam(+/+) Ambn(+/+) , Enam(+/-) , Ambn(+/-) , and Enam(+/-) Ambn(+/-) mice was characterized by dissec …
Human genes for dental anomalies.
Kurisu K, Tabata MJ. Kurisu K, et al. Oral Dis. 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. Oral Dis. 1997. PMID: 9643216 Review.
Recently, the gene for the human tuftelin protein (an enamelin) has been cloned as a candidate gene for the autosomal forms of AI with another gene on chromosome 4 involved in some families. ...
Recently, the gene for the human tuftelin protein (an enamelin) has been cloned as a candidate gene for the autosomal forms of AI wit …
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. Zhang Z, et al. BMC Oral Health. 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. BMC Oral Health. 2023. PMID: 37985977 Free PMC article.
The proband in family 2 exhibited a typical hypoplastic AI, and the splicing mutation (NM_031889.2: c.123 + 4 A > G) in the intron 4 of enamelin (ENAM) gene was observed in the proband and her father. This mutation led to exon 4 skipping. ...CONCLUSIONS: In this …
The proband in family 2 exhibited a typical hypoplastic AI, and the splicing mutation (NM_031889.2: c.123 + 4 A > G) in the intron 4 of …
ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.
Wang YL, Lin HC, Liang T, Lin JC, Simmer JP, Hu JC, Wang SK. Wang YL, et al. J Dent Res. 2024 Jun;103(6):662-671. doi: 10.1177/00220345241236695. Epub 2024 May 8. J Dent Res. 2024. PMID: 38716742 Free PMC article.
While hypoplastic AI suggests a thickness defect of enamel resulting from aberrations during the secretory stage of amelogenesis, hypomaturation AI indicates a deficiency of enamel mineralization and hardness established at the maturation stage. Mutations in ENAM, which en …
While hypoplastic AI suggests a thickness defect of enamel resulting from aberrations during the secretory stage of amelogenesis, hypomatura …
Association of LTF, ENAM, and AMELX polymorphisms with dental caries susceptibility: a meta-analysis.
Sharifi R, Jahedi S, Mozaffari HR, Imani MM, Sadeghi M, Golshah A, Moradpoor H, Safaei M. Sharifi R, et al. BMC Oral Health. 2020 May 6;20(1):132. doi: 10.1186/s12903-020-01121-7. BMC Oral Health. 2020. PMID: 32375748 Free PMC article.
RESULTS: A total of 150 relevant records were identified; out of which, 16 were entered into the analysis (4 studies assessed LTF, 11 ENAM, and 11 AMELX polymorphisms). Of all polymorphisms, there was a significant association only between ENAM rs3796704 polymorphis …
RESULTS: A total of 150 relevant records were identified; out of which, 16 were entered into the analysis (4 studies assessed LTF, 11 ENA …
Human enamel thickness and ENAM polymorphism.
Daubert DM, Kelley JL, Udod YG, Habor C, Kleist CG, Furman IK, Tikonov IN, Swanson WJ, Roberts FA. Daubert DM, et al. Int J Oral Sci. 2016 Jun 30;8(2):93-7. doi: 10.1038/ijos.2016.1. Int J Oral Sci. 2016. PMID: 27357321 Free PMC article.
The tooth enamel development gene, enamelin (ENAM), showed evidence of positive selection during a genome-wide scan of human and primate DNA for signs of adaptive evolution. The current study examined the hypothesis that a single-nucleotide polymorphism (SNP) C14625 …
The tooth enamel development gene, enamelin (ENAM), showed evidence of positive selection during a genome-wide scan of human a …
Amelogenesis imperfecta: an introduction.
Gadhia K, McDonald S, Arkutu N, Malik K. Gadhia K, et al. Br Dent J. 2012 Apr 27;212(8):377-9. doi: 10.1038/sj.bdj.2012.314. Br Dent J. 2012. PMID: 22538897 Review.
Amelogenesis imperfecta (AI) is an inherited disorder that is associated with mutations in five genes (AMEL; ENAM; MMP20; KLK4 and FAM83H) with a wide range of clinical presentations (phenotypes). ...
Amelogenesis imperfecta (AI) is an inherited disorder that is associated with mutations in five genes (AMEL; ENAM; MMP20; KLK4 and FA …
Genetic variations in exon 10 of ENAM and their association with early childhood caries.
Sharma A, Muthu MS, V V, Nuvvula S, T G. Sharma A, et al. J Oral Biosci. 2024 Jun;66(2):349-357. doi: 10.1016/j.job.2024.04.004. Epub 2024 Apr 18. J Oral Biosci. 2024. PMID: 38642606
OBJECTIVE: Enamelin is the largest enamel matrix protein encoded by the ENAM gene. The primary purpose of this study was to identify genetic variants in ENAM exon 10 that can alter susceptibility to early childhood caries (ECC). ...Seven polymorphisms (rs7671 …
OBJECTIVE: Enamelin is the largest enamel matrix protein encoded by the ENAM gene. The primary purpose of this study was to id …
125 results