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Item Metadata only Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth(2023-03-01) Panyarat C.; Nakornchai S.; Chintakanon K.; Leelaadisorn N.; Intachai W.; Olsen B.; Tongsima S.; Adisornkanj P.; Ngamphiw C.; Cox T.C.; Kantaputra P.; Mahidol Universityresults in the constitutive activation of β-catenin in embryonic mouse epithelium and causes supernumerary tooth formation. The objective of this study was to investigate if genetic variants in the APC gene were associated with supernumerary tooth....Asn1908Tyr). Rare variants in APC in our patients are likely to contribute to isolated supernumerary dental phenotypes including isolated mesiodens and an isolated supernumerary tooth.Item Metadata only CACNA1S mutation-associated dental anomalies: A calcium channelopathy(2023-01-01) Kantaputra P.; Butali A.; Eliason S.; Chalkley C.; Nakornchai S.; Bongkochwilawan C.; Kawasaki K.; Kumchiang A.; Ngamphiw C.; Tongsima S.; Ketudat Cairns J.R.; Olsen B.; Intachai W.; Ohazama A.; Tucker A.S.; Amendt B.A.; Mahidol Universitywith multiple supernumerary cusps, single-cusped premolars, and a reduction in root number. Mutation analysis highlighted a heterozygous c.865A>G; p.Ile289Val mutation in CACNA1S in the patients. CACNA1S is a component of the slowly inactivating L-type voltage...-dependent calcium channel. Mutant protein modeling suggested that the mutation might allow leakage of Ca2+ or other cations, or a tightening, to restrict calcium flow. Immunohistochemistry analysis showed expression of Cacna1s in the developing murine tooth