| Item type |
デフォルトアイテムタイプ（フル）(1) |
| 公開日 |
2020-10-13 |
| タイトル |
|
|
タイトル |
Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing |
|
言語 |
en |
| 作成者 |
Yamaguchi, Tetsutaro
Hosomichi, Kazuyoshi
Yano, Keisuke
Kim, Yong-Il
Nakaoka, Hirofumi
Kimura, Ryosuke
Otsuka, Hirotada
Nonaka, Naoko
Haga, Shugo
Takahashi, Masahiro
Shirota, Tatsuo
Kikkawa, Yoshiaki
Yamada, Atsushi
Kamijo, Ryutaro
Park, Soo-Byung
Nakamura, Masanori
Maki, Koutaro
Inoue, Ituro
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利情報 |
|
|
言語 |
en |
|
権利情報 |
Creative Commond Attribution 4.0 |
| 権利情報 |
|
|
言語 |
en |
|
権利情報Resource |
https://creativecommons.org/licenses/by/4.0/ |
|
権利情報 |
https://creativecommons.org/licenses/by/4.0/ |
| 内容記述 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
Tooth agenesis is described as the absence of one or more teeth. It is caused by a failure in tooth development and is one of the most common human developmental anomalies. We herein report genomic analyses of selective mandibular incisor agenesis (SMIA) using exome sequencing. Two Japanese families with SMIA were subjected to exome sequencing, and family with sequence similarity 65 member A (FAM65), nuclear factor of activated T-cells 3 (NFATC3) and cadherin-related 23 gene (CDH23) were detected. In the follow-up study, 51 Japanese and 32 Korean sporadic patients with SMIA were subjected to exome analyses, and 18 reported variants in PAX9, AXIN2, EDA, EDAR, WNT10A, BMP2 and GREM2 and 27 variants of FAM65, NFATC3 and CDH23 were found in 38 patients. Our comprehensive genetic study of SMIA will pave the way for a full understanding of the genetic etiology of SMIA and provide targets for treatment. |
| 内容記述 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
論文 |
| 出版者 |
|
|
出版者 |
Springer Nature |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 識別子 |
|
|
識別子 |
http://hdl.handle.net/20.500.12000/46974 |
|
識別子タイプ |
HDL |
| 関連情報 |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1038/hgv.2017.5 |
| 関連情報 |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1038/hgv.2017.5 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
2054-345X |
| 収録物名 |
|
|
収録物名 |
Human Genome Variation |
|
言語 |
en |
| 書誌情報 |
巻 4,
発行日 2017-02-23
|
hgv20175.pdf
