ArticleJournal of dental research2011
FAM83H mutations cause ADHCAI and alter intracellular protein localization.
Article in Journal of dental research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.International dental journal · 2026Pooled it
- Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.Molecular genetics & genomic medicine · 2025Article
- Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.Clinical oral investigations · 2023Article
- Article
- Article
- Identification of a NovelChildren (Basel, Switzerland) · 2022Article
- A RecurrentChildren (Basel, Switzerland) · 2022Article
- The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.Clinical oral investigations · 2021Article
- Article
- Characterisation of the biochemical and cellular roles of native and pathogenic amelogenesis imperfecta mutants of FAM83H.Cellular signalling · 2020Article
- The Enamel Phenotype in Homozygous Fam83h Truncation Mice.Molecular genetics & genomic medicine · 2019Article
- The Expression Patterns of FAM83H and PANX2 Are Associated With Shorter Survival of Clear Cell Renal Cell Carcinoma Patients.Frontiers in oncology · 2019Article
- Immunohistochemical Localization of Fam83h During Fluorosis-induced Mouse Molar Development.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2018Article
- The FAM83 family of proteins: from pseudo-PLDs to anchors for CK1 isoforms.Biochemical Society transactions · 2018Review
- The DUF1669 domain of FAM83 family proteins anchor casein kinase 1 isoforms.Science signaling · 2018Article
- Novel FAM83H mutations in patients with amelogenesis imperfecta.Scientific reports · 2017Article
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Frontiers in physiology · 2017Review
- FAM83 proteins: Fostering new interactions to drive oncogenic signaling and therapeutic resistance.Oncotarget · 2016Review
- Fam83h null mice support a neomorphic mechanism for human ADHCAI.Molecular genetics & genomic medicine · 2016Article
- Effects of Fam83h overexpression on enamel and dentine formation.Archives of oral biology · 2013Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Mutations in a family with sequence similarity 83 member H (FAM83H) cause autosomal-dominant hypocalcification amelogenesis imperfecta (ADH CAI). All FAM83H ADHCAI-causing mutations terminate translation or shift the reading frame within the specific exon 5 segment that encodes from Ser(287) to Glu(694). Mutations near Glu(694) cause a milder, more localized phenotype. We identified disease-causing FAM83H mutations in two families with ADHCAI: family 1 (g.3115C>T, c.1993 C>T, p.Q665X) and family 2 (g.3151C>T, c.2029 C>T, p.Q677X). We also tested the hypothesis that truncation mutations alter the intracellular localization of FAM83H. Wild-type FAM83H and p.E694X mutant FAM83H fused to green fluorescent protein (GFP) localized in the cytoplasm of HEK293T cells, but the mutant FAM83H proteins (p.R325X, p.W460X, and p.Q677X) fused to GFP localized mainly in the nucleus with slight expression in the cytoplasm. We conclude that nuclear targeting of the truncated FAM83H protein contributes to the severe, generalized enamel phenotype.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.