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22. Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel. Urzúa B; Martínez C; Ortega-Pinto A; Adorno D; Morales-Bozo I; Riadi G; Jara L; Plaza A; Lefimil C; Lozano C; Reyes M Arch Oral Biol; 2015 Sep; 60(9):1356-67. PubMed ID: 26142250 [TBL] [Abstract][Full Text] [Related]
23. Characterisation of the biochemical and cellular roles of native and pathogenic amelogenesis imperfecta mutants of FAM83H. Tachie-Menson T; Gázquez-Gutiérrez A; Fulcher LJ; Macartney TJ; Wood NT; Varghese J; Gourlay R; Soares RF; Sapkota GP Cell Signal; 2020 Aug; 72():109632. PubMed ID: 32289446 [TBL] [Abstract][Full Text] [Related]
24. Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta. Pourhashemi SJ; Ghandehari Motlagh M; Meighani G; Ebrahimi Takaloo A; Mansouri M; Mohandes F; Mirzaii M; Khoshzaban A; Moshtaghi F; Abedkhojasteh H; Heidari M Iran J Public Health; 2014 Dec; 43(12):1680-7. PubMed ID: 26171361 [TBL] [Abstract][Full Text] [Related]
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26. Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. Wang SK; Hu Y; Simmer JP; Seymen F; Estrella NM; Pal S; Reid BM; Yildirim M; Bayram M; Bartlett JD; Hu JC J Dent Res; 2013 Mar; 92(3):266-71. PubMed ID: 23355523 [TBL] [Abstract][Full Text] [Related]
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33. Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. Kim YJ; Seymen F; Kang J; Koruyucu M; Tuloglu N; Bayrak S; Tuna EB; Lee ZH; Shin TJ; Hyun HK; Kim YJ; Lee SH; Hu J; Simmer J; Kim JW Clin Oral Investig; 2019 Mar; 23(3):1481-1487. PubMed ID: 30120606 [TBL] [Abstract][Full Text] [Related]
34. Evolutionary analysis of FAM83H in vertebrates. Huang W; Yang M; Wang C; Song Y PLoS One; 2017; 12(7):e0180360. PubMed ID: 28683132 [TBL] [Abstract][Full Text] [Related]
35. Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome. Whitehouse LLE; Smith CEL; Poulter JA; Brown CJ; Patel A; Lamb T; Brown LR; O'Sullivan EA; Mitchell RE; Berry IR; Charlton R; Inglehearn CF; Mighell AJ Oral Dis; 2019 Jan; 25(1):182-191. PubMed ID: 30095208 [TBL] [Abstract][Full Text] [Related]
36. The Enamel Phenotype in Homozygous Fam83h Truncation Mice. Wang SK; Hu Y; Smith CE; Yang J; Zeng C; Kim JW; Hu JC; Simmer JP Mol Genet Genomic Med; 2019 Jun; 7(6):e724. PubMed ID: 31060110 [TBL] [Abstract][Full Text] [Related]
37. Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Lee SK; Hu JC; Bartlett JD; Lee KE; Lin BP; Simmer JP; Kim JW Hum Mutat; 2008 Aug; 29(8):E95-9. PubMed ID: 18484629 [TBL] [Abstract][Full Text] [Related]
38. CRISPR/Cas9-mediated deletion of Fam83h induces defective tooth mineralization and hair development in rabbits. Zhang Y; Yang J; Yao H; Zhang Z; Song Y J Cell Mol Med; 2022 Nov; 26(22):5670-5679. PubMed ID: 36300761 [TBL] [Abstract][Full Text] [Related]
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40. Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. Hentschel J; Tatun D; Parkhomchuk D; Kurth I; Schimmel B; Heinrich-Weltzien R; Bertzbach S; Peters H; Beetz C Gene; 2016 Sep; 590(1):1-4. PubMed ID: 27259663 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]