Associated Papers
FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.
Baker A et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2025
Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.
Sharmin N et al.
Plos One, 2025
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.
Hany U et al.
Human Mutation, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features.
Ding JN et al.
The Chinese Journal of Dental Research, 2024
FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.
Wang SK et al.
International Endodontic Journal, 2023
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A et al.
Frontiers in Physiology, 2023
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
Nitayavardhana I et al.
Molecular Genetics and Genomics : Mgg, 2020
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.
Pêgo SPB et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2017
Amelogenesis Imperfecta; Genes, Proteins, and Pathways.
Smith CEL et al.
Frontiers in Physiology, 2017
Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.
Zhang C et al.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2015
Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.
Cherkaoui Jaouad I et al.
Bmc Oral Health, 2015
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
de la Dure-Molla M et al.
Orphanet Journal of Rare Diseases, 2014
FAM20A mutations associated with enamel renal syndrome.
Wang SK et al.
Journal of Dental Research, 2014
FAM20A mutations can cause enamel-renal syndrome (ERS).
Wang SK et al.
Plos Genetics, 2013
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
Cho SH et al.
Human Mutation, 2012
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G et al.
Nephron. Physiology, 2012
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
O'Sullivan J et al.
American Journal of Human Genetics, 2011
The ABCs of the atypical Fam20 secretory pathway kinases.
Worby CA et al.
The Journal of Biological Chemistry, 0