ArticleJournal of dental research2014
FAM20A mutations associated with enamel renal syndrome.
Article in Journal of dental research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 69 citations in OpenAlex.
- Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years.Clinical advances in periodontics · 2026Article
- Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.Biochemical genetics · 2026Article
- Nifedipine Induces FAM20A Upregulation and LRP2/CUBN-Mediated Fetuin-A Accumulation in Gingival Overgrowth.International journal of dentistry · 2026Article
- Review
- Mechanisms of primary failure of eruption: a new model of multidimensional framework.Progress in orthodontics · 2025Review
- When teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.The Pan African medical journal · 2025Article
- Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review).Molecular medicine reports · 2024Review
- FAM20A is a golgi-localized Type II transmembrane protein.Scientific reports · 2024Article
- A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.Upsala journal of medical sciences · 2024Article
- Primary Failure Eruption: Genetic Investigation, Diagnosis and Treatment: A Systematic Review.Children (Basel, Switzerland) · 2023Review
- Abnormal teeth and renal calcifications: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.International endodontic journal · 2023Article
- Review
- NovelJournal of personalized medicine · 2023Article
- Case report: Enamel renal syndrome: a case series from sub-Saharan Africa.Frontiers in oral health · 2023Article
- Article
- Quantification of FAM20A in human milk and identification of calcium metabolism proteins.Physiological reports · 2021Article
- Enamel Renal Syndrome: Protocol for a Scoping Review.JMIR research protocols · 2021Article
- Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- FAM20A is essential for amelogenesis, but is dispensable for dentinogenesis.Journal of molecular histology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
We identified two families with an autosomal-recessive disorder manifested by severe enamel hypoplasia, delayed and failed tooth eruption, misshapen teeth, intrapulpal calcifications, and localized gingival hyperplasia. Genetic analyses identified novel FAM20A mutations associated with the disease phenotype in both families. The proband of Family 1 had an altered splice junction in Intron 1 (g.502011G>C; c.405-1G>C) and a missense mutation in Exon 8 (g.65094G>A; c.1207G>A; p.D403N). The missense mutation is notable because D(403) is strictly conserved among FAM20A homologues, and the corresponding defect in FAM20C caused osteosclerotic bone dysplasia and a loss of kinase activity. The proband at age 12 yrs tested negative for nephrocalcinosis. The proband and her affected father in Family 2 were homozygous for a single nucleotide deletion that altered a splice junction in Intron 10 (g.66622del; c.1361+4del). Minigene analyses demonstrated that this alteration precluded normal splicing. Immunohistochemistry (IHC) of mouse maxillary first molars localized FAM20A in secretory-stage ameloblasts, in odontoblasts, and in the eruption pathway. IHC of kidneys localized FAM20A in the renal tubules. We conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis.
Indexed as
Identifiers
What OpenQuestion holds
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.