20.500.12556/RUL-187979 Integrative multi-omics and bioinformatic analysis of MMP20 in amelogenesis imperfecta Objectives: To systematically review and integrate current evidence on MMP20, a key gene associated with autosomal recessive hypomaturation amelogenesis imperfecta, using a multi-omics framework complemented by integrated bioinformatic analyses. Methods: A systematic literature search was conducted in the PubMed and Web of Science databases from database inception to March 2026 using keywords related to MMP20 and multiple omics domains. Eligible studies were systematically screened, quality assessed, and integrated with data from 16 bioinformatic databases and tools. Results: Of 186 screened publications, 67 met the inclusion criteria. Thirteen omics layers were evaluated, with available data identified for nine layers. Integrated analysis identified 37 reported sequence variants, 173 predicted microRNA-binding sites, 11 post-translational modification sites, and one sequence variant located within a post-translational modification site. Protein–protein interaction analysis revealed a highly interconnected network comprising MMP20 and 17 other amelogenesis imperfecta-associated proteins. Conclusions: This systematic review provides a multi-omics overview of MMP20 by integrating published evidence with bioinformatic analyses. The identified variants, regulatory elements, post-translational modifications, and interaction networks expand current understanding of the molecular landscape surrounding MMP20 and its role in enamel development. The proposed workflow may facilitate variant interpretation and serve as a framework for gene–disease investigations. amelogenesis imperfecta enamel defects biomineralization matrix metalloproteinases gene regulation genetika dedne bolezni nepravilen razvoj zobne sklenine amelogenesis imperfecta gen MMP20 več-omike bioinformatika true false true Angleški jezik Slovenski jezik Članek v reviji 2026-09-17 08:27:05 2026-09-17 08:27:12 2026-09-18 04:30:30 0000-00-00 00:00:00 2026 0 0 Str. 274-283 Vol. 62 Dec. 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 575 2213-6851 10.1016/j.jdsr.2026.08.003 291364355 RAZ_Leban_Tina_2026.pdf RAZ_Leban_Tina_2026.pdf 1 60AD5A9A3D9EC3D58084C2EB23430F2A c5678d6a2e54e720027838f6d7900ecd73be747ea39a78b08fd91abc7acf7f17 d1619af9-b260-11f1-8bc5-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=247830 https://www.sciencedirect.com/science/article/pii/S1882761626000207? 1 c73a1a17-b260-11f1-8bc5-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=247829 Medicinska fakulteta Biotehniška fakulteta 0 0 0