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Isolated and Sporadic Human Mesiodens Is Associated with a Synonymous Variant in the ACVR2A Gene
DC Field | Value | Language |
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dc.contributor.author | 송제선 | - |
dc.contributor.author | 이재훈 | - |
dc.contributor.author | 조성원 | - |
dc.date.accessioned | 2021-09-29T02:14:05Z | - |
dc.date.available | 2021-09-29T02:14:05Z | - |
dc.date.issued | 2021-01 | - |
dc.identifier.issn | 0164-1263 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/184783 | - |
dc.description.abstract | Purpose: The purpose of this study was to use targeted next-generation sequencing (NGS) to identify possible causative genes for isolated and sporadic human mesiodens. Methods: The targeted panel consisted of 101 target genes related to tooth development. NGS of this panel was initially performed on a discovery set (39 cases and 27 controls); association tests were performed after genotyping of nine selected variants in a validation set (57 cases and 56 controls). Results: Among these nine variants, a synonymous variant, ACVR2A (rs1128919) associated with mesiodens was identified. Moreover, in silico analysis was performed and demonstrated the instability of mRNA with the G allele. Conclusions: The formation of isolated and sporadic human mesiodens is associated with a synonymous variation in ACVR2A (rs1128919). | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | American Academy of Pediatric Dentistry | - |
dc.relation.isPartOf | PEDIATRIC DENTISTRY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | High-Throughput Nucleotide Sequencing* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Tooth, Supernumerary* / genetics | - |
dc.title | Isolated and Sporadic Human Mesiodens Is Associated with a Synonymous Variant in the ACVR2A Gene | - |
dc.type | Article | - |
dc.contributor.college | College of Dentistry (치과대학) | - |
dc.contributor.department | Dept. of Pediatric Dentistry (소아치과학교실) | - |
dc.contributor.googleauthor | Chan-Woo Jo | - |
dc.contributor.googleauthor | Ji Hyun Lee | - |
dc.contributor.googleauthor | Je Seon Song | - |
dc.contributor.googleauthor | Min Kyoung Park | - |
dc.contributor.googleauthor | Sung-Won Cho | - |
dc.contributor.googleauthor | Jae-Hoon Lee | - |
dc.contributor.googleauthor | Hyo-Seol Lee | - |
dc.contributor.localId | A02058 | - |
dc.contributor.localId | A03091 | - |
dc.contributor.localId | A03837 | - |
dc.relation.journalcode | J02482 | - |
dc.identifier.eissn | 1942-5473 | - |
dc.identifier.pmid | 33662249 | - |
dc.identifier.url | https://www.ingentaconnect.com/content/aapd/pd/2021/00000043/00000001/art00009;jsessionid=1i2am1lqrlls4.x-ic-live-02 | - |
dc.contributor.alternativeName | Song, Je Seon | - |
dc.contributor.affiliatedAuthor | 송제선 | - |
dc.contributor.affiliatedAuthor | 이재훈 | - |
dc.contributor.affiliatedAuthor | 조성원 | - |
dc.citation.volume | 43 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 39 | - |
dc.citation.endPage | 43 | - |
dc.identifier.bibliographicCitation | PEDIATRIC DENTISTRY, Vol.43(1) : 39-43, 2021-01 | - |
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