Literature DB >> 26481691

All enamel is not created equal:Supports from a novel FAM83H mutation.

Piranit Nik Kantaputra1,2,3, Worrachet Intachai1,2, Prim Auychai4.   

Abstract

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Year:  2015        PMID： 26481691     DOI： 10.1002/ajmg.a.37406

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.

Authors:  S K Wang; H Zhang; C Y Hu; J F Liu; S Chadha; J W Kim; J P Simmer; J C C Hu
Journal:  J Dent Res       Date:  2020-10-09       Impact factor: 6.116

2.  The Enamel Phenotype in Homozygous Fam83h Truncation Mice.

Authors:  Shih-Kai Wang; Yuanyuan Hu; Charles E Smith; Jie Yang; Chunhua Zeng; Jung-Wook Kim; Jan C-C Hu; James P Simmer
Journal:  Mol Genet Genomic Med       Date:  2019-05-06       Impact factor: 2.183

3.  A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.

Authors:  Rui-Qi Bai; Wen-Bin He; Qian Peng; Su-Hui Shen; Qian-Qian Yu; Juan Du; Yue-Qiu Tan; Yue-Hong Wang; Bin-Jie Liu
Journal:  Mol Genet Genomic Med       Date:  2022-02-25       Impact factor: 2.183

4.  An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature.

Authors:  Tina Leban; Katarina Trebušak Podkrajšek; Jernej Kovač; Aleš Fidler; Alenka Pavlič
Journal:  Genes (Basel)       Date:  2022-07-18       Impact factor: 4.141

5.  Characterisation of the biochemical and cellular roles of native and pathogenic amelogenesis imperfecta mutants of FAM83H.

Authors:  Theresa Tachie-Menson; Ana Gázquez-Gutiérrez; Luke J Fulcher; Thomas J Macartney; Nicola T Wood; Joby Varghese; Robert Gourlay; Renata F Soares; Gopal P Sapkota
Journal:  Cell Signal       Date:  2020-04-11       Impact factor: 4.315
  5 in total

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