Associated Papers
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.
Kamps R et al.
Molecular Genetics & Genomic Medicine, 2025
Fam83h mutation causes mandible underdevelopment via CK1α-mediated Wnt/β-catenin signaling in male C57/BL6J mice.
He Z et al.
Bone, 2023
Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.
Xie Y et al.
Clinical Oral Investigations, 2023
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
Leban T et al.
Genes, 2022
Identification of a Novel FAM83H Mutation and Management of Hypocalcified Amelogenesis Imperfecta in Early Childhood.
Song JS et al.
Children (basel, Switzerland), 2022
FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.
Wang SK et al.
Journal of Dental Research, 2021
Characterisation of the biochemical and cellular roles of native and pathogenic amelogenesis imperfecta mutants of FAM83H.
Tachie-Menson T et al.
Cellular Signalling, 2020
Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation.
Nowwarote N et al.
Genes & Diseases, 2019
Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.
Nowwarote N et al.
Oral Diseases, 2018
Fam83h mutation inhibits the mineralization in ameloblasts by activating Wnt/β-catenin signaling pathway.
Yang M et al.
Biochemical and Biophysical Research Communications, 2018
Fam83h null mice support a neomorphic mechanism for human ADHCAI.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2016
Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.
Urzúa B et al.
Archives of Oral Biology, 2015
Molecular characterization of amelogenesis imperfecta in Chinese patients.
Song YL et al.
Cells, Tissues, Organs, 2012
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.
Haubek D et al.
International Journal of Paediatric Dentistry, 2011
FAM83H mutations cause ADHCAI and alter intracellular protein localization.
Lee SK et al.
Journal of Dental Research, 2011
Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
Wright JT et al.
Cells, Tissues, Organs, 2011
Fam83h is associated with intracellular vesicles and ADHCAI.
Ding Y et al.
Journal of Dental Research, 2009
Phenotypic variation in FAM83H-associated amelogenesis imperfecta.
Wright JT et al.
Journal of Dental Research, 2009