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References
These sources were used to develop the Genetics Home Reference
gene summary
on the ENAM gene.
Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol. 2003 Aug;48(8):589-96.
PubMed citation
Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet. 2003 Dec;40(12):900-6.
PubMed citation
Hu JC, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med. 2003;14(6):387-98. Review.
PubMed citation
Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y. Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. J Dent Res. 2002 Nov;81(11):738-42.
PubMed citation
Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC. ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res. 2005 Mar;84(3):278-82.
PubMed citation
Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC. Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci. 2006 May;114 Suppl 1:3-12; discussion 39-41, 379.
PubMed citation
Mardh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet. 2002 May 1;11(9):1069-74.
PubMed citation
Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC. Phenotype of ENAM mutations is dosage-dependent. J Dent Res. 2005 Nov;84(11):1036-41.
PubMed citation
Pavlic A, Petelin M, Battelino T. Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. Arch Oral Biol. 2007 Mar;52(3):209-17. Epub 2006 Nov 27.
PubMed citation
Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet. 2001 Aug 1;10(16):1673-7.
PubMed citation
Stephanopoulos G, Garefalaki ME, Lyroudia K. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res. 2005 Dec;84(12):1117-26.
PubMed citation
Reviewed: February 2007
Published: February 6, 2009