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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Comprehensive genetic exploration of selective tooth agenesis of mandibular incisors by exome sequencing

http://hdl.handle.net/20.500.12000/46974
http://hdl.handle.net/20.500.12000/46974
7665c814-7535-40c2-8053-5b7cd3ae34df
名前 / ファイル ライセンス アクション
hgv20175.pdf hgv20175.pdf
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

× Yamaguchi, Tetsutaro

en Yamaguchi, Tetsutaro

Hosomichi, Kazuyoshi

× Hosomichi, Kazuyoshi

en Hosomichi, Kazuyoshi

Yano, Keisuke

× Yano, Keisuke

en Yano, Keisuke

Kim, Yong-Il

× Kim, Yong-Il

en Kim, Yong-Il

Nakaoka, Hirofumi

× Nakaoka, Hirofumi

en Nakaoka, Hirofumi

Kimura, Ryosuke

× Kimura, Ryosuke

en Kimura, Ryosuke

Otsuka, Hirotada

× Otsuka, Hirotada

en Otsuka, Hirotada

Nonaka, Naoko

× Nonaka, Naoko

en Nonaka, Naoko

Haga, Shugo

× Haga, Shugo

en Haga, Shugo

Takahashi, Masahiro

× Takahashi, Masahiro

en Takahashi, Masahiro

Shirota, Tatsuo

× Shirota, Tatsuo

en Shirota, Tatsuo

Kikkawa, Yoshiaki

× Kikkawa, Yoshiaki

en Kikkawa, Yoshiaki

Yamada, Atsushi

× Yamada, Atsushi

en Yamada, Atsushi

Kamijo, Ryutaro

× Kamijo, Ryutaro

en Kamijo, Ryutaro

Park, Soo-Byung

× Park, Soo-Byung

en Park, Soo-Byung

Nakamura, Masanori

× Nakamura, Masanori

en Nakamura, Masanori

Maki, Koutaro

× Maki, Koutaro

en Maki, Koutaro

Inoue, Ituro

× Inoue, Ituro

en 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
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.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Springer Nature
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
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
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1038/hgv.2017.5
関連識別子
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
言語 en
収録物名 Human Genome Variation
書誌情報
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