Abstract

Objectives To evaluate dental anomalies in genetic syndromes associated with hypertrichosis and analysis of functional enrichment of protein-protein interaction networks. Study Design A search was performed in the Online Mendelian Inheritance in Man (https://www.omim.org/) electronic database with the associations of the terms “hypertrichosis,” “hirsutism,” and “tooth.” An additional search was performed in PubMed and Orphanet. STRING, analysis of functional enrichment of protein-protein interaction networks, was used to investigate biological processes, pathways, and interaction networks. The P values ​​were subjected to the false discovery rate for correction of several tests, and values ​​≤.05 were considered significant. Results Dental agenesis was the most frequent dental anomaly, present in 40% of the syndromes (n = 16). Forty genes were found, and they participate in 139 biological processes and 3 pathways. The most significant biological processes were disassembly of the nucleosome (P = 1.25e-06), chromosomal organization (P = 1.59e-06), and remodeling of the chromatin (P = 9.52e-06), and the pathways were hepatocellular carcinoma (P = 6.77e-05), thermogenesis (P = .00022), and cell cycle (P = .04). Conclusions The study highlights the protein-protein interaction networks and the most common dental abnormalities in genetic syndromes with hypertrichosis. To evaluate dental anomalies in genetic syndromes associated with hypertrichosis and analysis of functional enrichment of protein-protein interaction networks. A search was performed in the Online Mendelian Inheritance in Man (https://www.omim.org/) electronic database with the associations of the terms “hypertrichosis,” “hirsutism,” and “tooth.” An additional search was performed in PubMed and Orphanet. STRING, analysis of functional enrichment of protein-protein interaction networks, was used to investigate biological processes, pathways, and interaction networks. The P values ​​were subjected to the false discovery rate for correction of several tests, and values ​​≤.05 were considered significant. Dental agenesis was the most frequent dental anomaly, present in 40% of the syndromes (n = 16). Forty genes were found, and they participate in 139 biological processes and 3 pathways. The most significant biological processes were disassembly of the nucleosome (P = 1.25e-06), chromosomal organization (P = 1.59e-06), and remodeling of the chromatin (P = 9.52e-06), and the pathways were hepatocellular carcinoma (P = 6.77e-05), thermogenesis (P = .00022), and cell cycle (P = .04). The study highlights the protein-protein interaction networks and the most common dental abnormalities in genetic syndromes with hypertrichosis.

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