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Items: 16


Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ.

Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017. Review.


Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice.

Yin K, Guo J, Lin W, Robertson SYT, Soleimani M, Paine ML.

Front Physiol. 2017 May 16;8:307. doi: 10.3389/fphys.2017.00307. eCollection 2017.


MiR-153 Regulates Amelogenesis by Targeting Endocytotic and Endosomal/lysosomal Pathways-Novel Insight into the Origins of Enamel Pathologies.

Yin K, Lin W, Guo J, Sugiyama T, Snead ML, Hacia JG, Paine ML.

Sci Rep. 2017 Mar 13;7:44118. doi: 10.1038/srep44118.


Fam83h null mice support a neomorphic mechanism for human ADHCAI.

Wang SK, Hu Y, Yang J, Smith CE, Richardson AS, Yamakoshi Y, Lee YL, Seymen F, Koruyucu M, Gencay K, Lee M, Choi M, Kim JW, Hu JC, Simmer JP.

Mol Genet Genomic Med. 2015 Sep 21;4(1):46-67. doi: 10.1002/mgg3.178. eCollection 2016 Jan.


The wooly mutation (wly) on mouse chromosome 11 is associated with a genetic defect in Fam83g.

Radden LA 2nd, Child KM, Adkins EB, Spacek DV, Feliciano AM, King TR.

BMC Res Notes. 2013 May 9;6:189. doi: 10.1186/1756-0500-6-189.


Effects of Fam83h overexpression on enamel and dentine formation.

Kweon YS, Lee KE, Ko J, Hu JC, Simmer JP, Kim JW.

Arch Oral Biol. 2013 Sep;58(9):1148-54. doi: 10.1016/j.archoralbio.2013.03.001. Epub 2013 Mar 29.


Bodyweight assessment of enamelin null mice.

Chan AH, Lertlam R, Simmer JP, Wang CN, Hu JC.

Biomed Res Int. 2013;2013:246861. doi: 10.1155/2013/246861. Epub 2012 Dec 26.


Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta.

Muto T, Miyoshi K, Horiguchi T, Hagita H, Noma T.

Orphanet J Rare Dis. 2012 Jun 7;7:34. doi: 10.1186/1750-1172-7-34.


Target gene analyses of 39 amelogenesis imperfecta kindreds.

Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC.

Eur J Oral Sci. 2011 Dec;119 Suppl 1:311-23. doi: 10.1111/j.1600-0722.2011.00857.x.


Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

El-Sayed W, Shore RC, Parry DA, Inglehearn CF, Mighell AJ.

Cells Tissues Organs. 2010;191(3):235-9. doi: 10.1159/000252801. Epub 2009 Oct 22.


Oral rehabilitation of a patient with amelogenesis imperfecta.

Cogulu D, Becerik S, Emingil G, Hart PS, Hart TC.

Pediatr Dent. 2009 Nov-Dec;31(7):523-7.


MMP20 hemopexin domain mutation in amelogenesis imperfecta.

Lee SK, Seymen F, Kang HY, Lee KE, Gencay K, Tuna B, Kim JW.

J Dent Res. 2010 Jan;89(1):46-50. doi: 10.1177/0022034509352844.


Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ.

Am J Hum Genet. 2009 Nov;85(5):699-705. doi: 10.1016/j.ajhg.2009.09.014. Epub 2009 Oct 22.


Fam83h is associated with intracellular vesicles and ADHCAI.

Ding Y, Estrella MR, Hu YY, Chan HL, Zhang HD, Kim JW, Simmer JP, Hu JC.

J Dent Res. 2009 Nov;88(11):991-6. doi: 10.1177/0022034509349454.


Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta.

Becerik S, Cogulu D, Emingil G, Han T, Hart PS, Hart TC.

Am J Med Genet A. 2009 Jul;149A(7):1392-8. doi: 10.1002/ajmg.a.32885.


Phenotypic variation in FAM83H-associated amelogenesis imperfecta.

Wright JT, Frazier-Bowers S, Simmons D, Alexander K, Crawford P, Han ST, Hart PS, Hart TC.

J Dent Res. 2009 Apr;88(4):356-60. doi: 10.1177/0022034509333822.

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