Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Yoshihito Tokita"'
Autor:
Michiyo Ando, Yoshihiko Aoki, Yasuto Sano, Junya Adachi, Masatoshi Sana, Satoru Miyabe, Satoshi Watanabe, Shogo Hasegawa, Hitoshi Miyachi, Junichiro Machida, Mitsuo Goto, Yoshihito Tokita
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, follo
Externí odkaz:
https://doaj.org/article/bb04e172da454fe8a6aabcbc33c0d29a
Autor:
Junya Adachi, Yoshihiko Aoki, Hiroto Izumi, Takeshi Nishiyama, Atsuo Nakayama, Masatoshi Sana, Kyoko Morimoto, Atsuo Kaetsu, Takamasa Shirozu, Eriko Osumi, Michiko Matsuoka, Eri Hayakawa, Nasel Maeda, Junichiro Machida, Toru Nagao, Yoshihito Tokita
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)
Abstract Congenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1, PAX9, WNT10A, and LRP6. Thus, mutations in these genes can cause congenital tooth agenesis in hu
Externí odkaz:
https://doaj.org/article/48150a6d96f64c5aa4a341804a4d138c
Autor:
Sayaka Mishima, Katsu Takahashi, Honoka Kiso, Akiko Murashima-Suginami, Yoshihito Tokita, Jun-Ichiro Jo, Ryuji Uozumi, Yukiko Nambu, Boyen Huang, Hidemitsu Harada, Toshihisa Komori, Manabu Sugai, Yasuhiko Tabata, Kazuhisa Bessho
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Runt-related transcription factor 2 (Runx2)-deficient mice can be used to model congenital tooth agenesis in humans. Conversely, uterine sensitization-associated gene-1 (Usag-1)-deficient mice exhibit supernumerary tooth formation. Arrested
Externí odkaz:
https://doaj.org/article/b69b2500ef85490687eba3c4e049a2f7
Autor:
Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Hiroki Goto, Atsuo Nakayama, Takeshi Nishiyama, Katsu Takahashi, Masatoshi Sana, Akiko Ota, Junichiro Machida, Toru Nagao, Yoshihito Tokita
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in th
Externí odkaz:
https://doaj.org/article/8435a11a51bf4a10b3d6c63528981658
Autor:
Hiroki Goto, Masashi Kimura, Junichiro Machida, Akiko Ota, Mitsuko Nakashima, Naomi Tsuchida, Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Katsu Takahashi, Masatoshi Sana, Atsuo Nakayama, Shintaro Suzuki, Toru Nagao, Naomichi Matsumoto, Yoshihito Tokita
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract Congenital tooth agenesis is a common anomaly in human development. We performed exome sequence analysis of genomic DNA collected from Japanese patients with tooth agenesis and their relatives. We found a novel single-nucleotide insertion in
Externí odkaz:
https://doaj.org/article/283eef5389cb4fd7a15416ba58478c38
Autor:
Katsu Takahashi, Honoka Kiso, Akiko Murashima-Suginami, Yoshihito Tokita, Manabu Sugai, Yasuhiko Tabata, Kazuhisa Bessho
Publikováno v:
Inflammation and Regeneration, Vol 40, Iss 1, Pp 1-9 (2020)
Abstract Analysis of various genetically modified mice, with supernumerary teeth, has revealed the following two intrinsic molecular mechanisms that increase the number of teeth. One plausible explanation for supernumerary tooth formation is the resc
Externí odkaz:
https://doaj.org/article/6df984da5359472497a0e5d6d7596fe5
Autor:
Tadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, Junichiro Machida, Seishi Yamaguchi, Akio Shibata, Hiroki Goto, Atsuo Nakayama, Yujiro Higashi, Hitoshi Miyachi, Kazuo Shimozato, Naomichi Matsumoto, Yoshihito Tokita
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0128227 (2015)
Congenital tooth agenesis is caused by mutations in the MSX1, PAX9, WNT10A, or AXIN2 genes. Here, we report a Japanese family with nonsyndromic tooth agenesis caused by a novel nucleotide substitution in the intronic region between exons 1 and 2 of t
Externí odkaz:
https://doaj.org/article/43b02d3aa70e40a0b080ad53df29c791
Autor:
Seishi Yamaguchi, Junichiro Machida, Munefumi Kamamoto, Masashi Kimura, Akio Shibata, Tadashi Tatematsu, Hitoshi Miyachi, Yujiro Higashi, Peter Jezewski, Atsuo Nakayama, Kazuo Shimozato, Yoshihito Tokita
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e102944 (2014)
Since MSX1 and PAX9 are linked to the pathogenesis of nonsyndromic tooth agenesis, we performed detailed mutational analysis of these two genes sampled from Japanese patients. We identified two novel MSX1 variants with an amino acid substitution with
Externí odkaz:
https://doaj.org/article/9244d611746c4a98b6db5b8b47058f61
Autor:
Noriko Nomura, Daisuke Fukushi, Kimiko Katoh, Yoshihito Tokita, Yasushi Enokido, Mie Inaba, Nobuaki Wakamatsu, Seiji Mizuno, Shin Hayashi, Yasuyo Suzuki, Kenichiro Yamada
Publikováno v:
American Journal of Medical Genetics Part A. 185:1776-1786
R3HDM1 (R3H domain containing 1) is an uncharacterized RNA-binding protein that is highly expressed in the human cerebral cortex. We report the first case of a 12-year-old Japanese male with haploinsufficiency of R3HDM1. He presented with mild intell
Autor:
Masashi Kimura, Hiroki Goto, Tadashi Tatematsu, Katsu Takahashi, Junya Adachi, Junichiro Machida, Atsuo Nakayama, Yoshihito Tokita, Toru Nagao, Naomichi Matsumoto, Akiko Ota, Naomi Tsuchida, Yoshihiko Aoki, Masatoshi Sana, Shintaro Suzuki, Mitsuko Nakashima
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Human Genome Variation
Human Genome Variation
Congenital tooth agenesis is a common anomaly in human development. We performed exome sequence analysis of genomic DNA collected from Japanese patients with tooth agenesis and their relatives. We found a novel single-nucleotide insertion in the LRP6