日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

日本一名患有牙齿缺失症的患者体内发现WNT10A的新型移码变异

Ando, Michiyo; Aoki, Yoshihiko; Sano, Yasuto; Adachi, Junya; Sana, Masatoshi; Miyabe, Satoru; Watanabe, Satoshi; Hasegawa, Shogo; Miyachi, Hitoshi; Machida, Junichiro; Goto, Mitsuo; Tokita, Yoshihito

Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia

日本一例非综合征性少牙症患者中发现新的WNT10A变异

Adachi, Junya; Aoki, Yoshihiko; Izumi, Hiroto; Nishiyama, Takeshi; Nakayama, Atsuo; Sana, Masatoshi; Morimoto, Kyoko; Kaetsu, Atsuo; Shirozu, Takamasa; Osumi, Eriko; Matsuoka, Michiko; Hayakawa, Eri; Maeda, Nasel; Machida, Junichiro; Nagao, Toru; Tokita, Yoshihito

A novel LRP6 variant in a Japanese family with oligodontia

日本少牙症家族中发现一种新的LRP6变异

Goto, Hiroki; Kimura, Masashi; Machida, Junichiro; Ota, Akiko; Nakashima, Mitsuko; Tsuchida, Naomi; Adachi, Junya; Aoki, Yoshihiko; Tatematsu, Tadashi; Takahashi, Katsu; Sana, Masatoshi; Nakayama, Atsuo; Suzuki, Shintaro; Nagao, Toru; Matsumoto, Naomichi; Tokita, Yoshihito

Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia

日本一个患有非综合征性少牙症的家族中发现新的MSX1移码突变

Adachi, Junya; Aoki, Yoshihiko; Tatematsu, Tadashi; Goto, Hiroki; Nakayama, Atsuo; Nishiyama, Takeshi; Takahashi, Katsu; Sana, Masatoshi; Ota, Akiko; Machida, Junichiro; Nagao, Toru; Tokita, Yoshihito

WNT10A variants isolated from Japanese patients with congenital tooth agenesis

从日本先天性牙齿缺失患者中分离出的WNT10A变体

Machida, Junichiro; Goto, Hiroaki; Tatematsu, Tadashi; Shibata, Akio; Miyachi, Hitoshi; Takahashi, Katsu; Izumi, Hiroto; Nakayama, Atsuo; Shimozato, Kazuo; Tokita, Yoshihito

A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1

与孤立性唇腭裂、甲状腺癌和甲状腺功能减退症相关的单核苷酸多态性会改变FOXE1附近口腔上皮和甲状腺增强子的活性。

Lidral, Andrew C; Liu, Huan; Bullard, Steven A; Bonde, Greg; Machida, Junichiro; Visel, Axel; Uribe, Lina M Moreno; Li, Xiao; Amendt, Brad; Cornell, Robert A

Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.

临床和功能数据表明 MSX1 的 Arg(151)Ser 变异与家族性牙齿缺失有关

Kamamoto Munefumi, Machida Junichiro, Yamaguchi Seishi, Kimura Masashi, Ono Takao, Jezewski Peter A, Higashi Yujiro, Nakayama Atsuo, Shimozato Kazuo, Tokita Yoshihito

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate

FOXE1 与孤立性唇裂(伴或不伴腭裂)和孤立性腭裂均有关联

Moreno, Lina M; Mansilla, Maria Adela; Bullard, Steve A; Cooper, Margaret E; Busch, Tamara D; Machida, Junichiro; Johnson, Marla K; Brauer, David; Krahn, Katherine; Daack-Hirsch, Sandy; L'heureux, Jamie; Valencia-Ramirez, Consuelo; Rivera, Dora; López, Ana Maria; Moreno, Manuel A; Hing, Anne; Lammer, Edward J; Jones, Marilyn; Christensen, Kaare; Lie, Rolv T; Jugessur, Astanand; Wilcox, Allen J; Chines, Peter; Pugh, Elizabeth; Doheny, Kim; Arcos-Burgos, Mauricio; Marazita, Mary L; Murray, Jeffrey C; Lidral, Andrew C