Citations for
1AIH4, FAM83H
FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.
Wang SK, Zhang H, Hu CY, Liu JF, Chadha S, Kim JW, Simmer JP, Hu JCC.
J Dent Res. Mar;100(3):293-301. doi: 10.1177/0022034520962731. Epub 2020 Oct 9. 2021
2AIH4, FAM83H
Fam83h mutation inhibits the mineralization in ameloblasts by activating Wnt/β-catenin signaling pathway.
Yang M, Huang W, Yang F, Zhang T, Wang C, Song Y.
Biochem Biophys Res Commun. Jun 18;501(1):206-211. doi: 10.1016/j.bbrc.2018.04.216. Epub 2018 May 3. 2018
3AIH4, CSNK1A1, FAM83H
FAM83H and casein kinase I regulate the organization of the keratin cytoskeleton and formation of desmosomes
Kuga T, Sasaki M, Mikami T, Miake Y, Adachi J, Shimizu M, Saito Y, Koura M, Takeda Y, Matsuda J, Tomonaga T, Nakayama Y.
Sci Rep. May 25;6:26557. doi: 10.1038/srep26557. 2016
4AIH4, FAM83H
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. Sep 21;4(1):46-67. doi: 10.1002/mgg3.178. 2015
5FAM83H, AIH4
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP.
Am J Hum Genet 82(2):489-94. 2008
6AIH4
A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.
Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R, Gonzalez-Quevedo C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SR, Patel PI.
Hum Genet 120(5):653-62. Epub 2006 Sep 21. 2007