20.500.12556/RUL-176873 Multiomics data synthesis of FAM83H in amelogenesis imperfecta Objectives: FAM83H is a critical gene implicated in amelogenesis imperfecta type IIIA (AI type IIIA), but its precise role in enamel formation remains poorly understood. Fragmented datasets, inconsistent terminology, and limited integrative analyses hinder functional interpretation. This study presents a comprehensive multi-omics analysis of FAM83H-associated AI type IIIA. Methods: A systematic literature search (February 2008-June 2025) was conducted in PubMed and Web of Science using targeted keywords spanning genomics, transcriptomics, epigenomics, miRNomics, proteomics, interactomics, epiproteomics, metabolomics, glycomics, lipidomics, intracellular localization, phenomics, pharmacogenomics, and environmental omics. Data were extracted using 13 bioinformatic tools and databases including Ensembl, ENCODE, OMIM, HGNC, HGMD, dbSNP, gnomAD, miRBase, TargetScanHuman, MethPrimer, dbPTM, STRING, and MalaCards. Results: Of 150 screened publications, 62 met the inclusion criteria and were categorized across 12 omics layers. Key findings, derived from both published studies and bioinformatic databases/tools, include 38 single nucleotide polymorphisms (SNPs), two CpG islands, 932 predicted micro RNA (miRNA) binding sites, and multiple post-translational modifications. A protein–protein interaction network constructed from 18 AI-associated proteins, including FAM83H, revealed significant connectivity among enamel matrix–related proteins and provided a framework for exploring potential functional associations Conclusion: This study presents a multi-omics regulatory atlas of FAM83H, encompassing genetic variants, epigenetic changes, and post-translational modifications that are predicted to influence its biological function and role in disease. Clinical Relevance: The integrative methodology supports FAM83H as a model gene for elucidating the molecular mechanisms of amelogenesis imperfecta and may facilitate improved diagnosis and targeted therapeutic strategies for AI type IIIA. amelogenesis imperfecta FAM83H AI type IIIA enamel formation hypomineralization multi-omics genetika medicina dedne bolezni amelogenesis imperfecta zobna sklenina beljakovine FAM83H multiomike true false true Angleški jezik Slovenski jezik Članek v reviji 2025-12-12 08:59:24 2025-12-12 08:59:26 2026-07-30 12:24:27 0000-00-00 00:00:00 2026 0 0 15 str. iss.1, art. 109293 Vol. 76 Feb. 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 575:616 1875-595X 10.1016/j.identj.2025.109293 261113859 https://www.sciencedirect.com/science/article/pii/S0020653925085764?via%3Dihub 1 1032e152-8c00-11f1-9b0d-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=243648 RAZ_Leban_Tina_2026.pdf RAZ_Leban_Tina_2026.pdf 1 7C21F770AE901C0A3B889FBA8E89A379 ecf88511d795a648fb5105042f081a67ea08e113c0adc17f6117b8322c6bfb17 2c1ee07d-d730-11f0-9328-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=223503 https://www.sciencedirect.com/science/article/pii/S0020653925085764?via%3Dihub 0 6f0b232e-ead3-11f0-bf92-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=225005 Medicinska fakulteta Biotehniška fakulteta 0 0 0