{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kantaputra P"],"funding":["Health Systems Research Institute"],"pagination":["895"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10000453"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(5)"],"pubmed_abstract":["<h4>Background</h4>Enamel knots and Hertwig epithelial root sheath (HERS) regulate the growth and folding of the dental epithelium, which subsequently determines the final form of tooth crown and roots. We would like to investigate the genetic etiology of seven patients affected with unique clinical manifestations, including multiple supernumerary cusps, single prominent premolars, and single-rooted molars.<h4>Methods</h4>Oral and radiographic examination and whole-exome or Sanger sequencing were performed in seven patients. Immunohistochemical study during early tooth development in mice was performed.<h4>Results</h4>A heterozygous variant (c. 865A>G; p.Ile289Val) in <i>CACNA1S</i> was identified in all the patients, but not in an unaffected family member and control. Immunohistochemical "],"journal":["Diagnostics (Basel, Switzerland)"],"pubmed_title":["A Mutation in <i>CACNA1S</i> Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment."],"pmcid":["PMC10000453"],"funding_grant_id":["64-123"],"pubmed_authors":["Hatsadaloi A","Tongsima S","Intachai W","Ngamphiw C","Leelaadisorn N","Quarto N","Wiriyakijja P","Kantaputra P","Kawasaki K","Ohazama A"],"additional_accession":[]},"is_claimable":false,"name":"A Mutation in <i>CACNA1S</i> Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment.","description":"<h4>Background</h4>Enamel knots and Hertwig epithelial root sheath (HERS) regulate the growth and folding of the dental epithelium, which subsequently determines the final form of tooth crown and roots. We would like to investigate the genetic etiology of seven patients affected with unique clinical manifestations, including multiple supernumerary cusps, single prominent premolars, and single-rooted molars.<h4>Methods</h4>Oral and radiographic examination and whole-exome or Sanger sequencing were performed in seven patients. Immunohistochemical study during early tooth development in mice was performed.<h4>Results</h4>A heterozygous variant (c. 865A>G; p.Ile289Val) in <i>CACNA1S</i> was identified in all the patients, but not in an unaffected family member and control. Immunohistochemical ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-04T03:42:05.73Z","creation":"2025-04-04T03:42:05.73Z"},"accession":"S-EPMC10000453","cross_references":{"pubmed":["36900039"],"doi":["10.3390/diagnostics13050895"]}}