Citations for
1AIH1, AIH2, AIPH1, AIPH2, AMELX, ENAM, KLK4, MMP20
Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4.
Wright JT, Hart TC, Hart PS, Simmons D, Suggs C, Daley B, Simmer J, Hu J, Bartlett JD, Li Y, Yuan ZA, Seow WK, Gibson CW.
Cells Tissues Organs 189(1-4):224-9. Epub 2008 Aug 19. 2009
2AI1C, AIH1, AIH2, AIH3, AIHHT, AIPH1, AIPH2, AMELX, AXIN1, DD2, DGI1, DLX3, DSPP, ENAM, FTA1, FTACC, KLK4, MMP20, MSX1, OLD, PAX9, STHAG5, ZNF22
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
Bailleul-Forestier I, Molla M, Verloes A, Berdal A.
Eur J Med Genet 51(4):273-91. Epub 2008 Mar 26. Review. 2008
3AMELX, ENAM, AIH2
Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI).
Masuya H, Shimizu K, Sezutsu H, Sakuraba Y, Nagano J, Shimizu A, Fujimoto N, Kawai A, Miura I, Kaneda H, Kobayashi K, Ishijima J, Maeda T, Gondo Y, Noda T, Wakana S, Shiroishi T.
Hum Mol Genet 14(5):575-83. Epub 2005 Jan 13. 2005
4ENAM, AIH2
ENAM mutations in autosomal-dominant amelogenesis imperfecta.
Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC.
J Dent Res 84(3):278-82. 2005
5ENAM, AIH2
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.
Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E.
J Med Genet 40(12):900-6. 2003
6AIH2, ENAM
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).
Mardh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K.
Hum Mol Genet 11(9):1069-74. 2002
7AIH2, ENAM
Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.
Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ.
Hum Mol Genet 10(16):1673-7. 2001
8AIH2
Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to 4-Mb YAC contig on chromosome 4q11-q21.
KŠrrman C, et al.
Genomics 39 : 164-170. 1997
9AIH2, AMBN
Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21.
MacDougall M, et al.
Genomics 41 : 115-118. 1997
10AIH2
FISH mapping of 250 cosmids and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region on 4q35.
Wijmenga C, et al.
Muscle Nerve 52 : 14-18. 1995
11AIH2
Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q.
Forsman K, et al.
Hum Mol Genet 3 : 1621-1625. 1994