Zobrazeno 1 - 10
of 138
pro vyhledávání: '"Hidehito Inagaki"'
Autor:
Yusuke Kawano, MD, PhD, Atsuhito Seki, MD, PhD, Takashi Kuroiwa, MD, PhD, Atsushi Maeda, MD, Takuya Funahashi, MD, PhD, Kanae Shizu, MD, PhD, Katsuji Suzuki, MD, PhD, Hidehito Inagaki, PhD, Hiroki Kurahashi, PhD, Nobuyuki Fujita, MD, PhD
Publikováno v:
JSES International, Vol 7, Iss 4, Pp 714-718 (2023)
Externí odkaz:
https://doaj.org/article/9e49c1bc596c4418b3433c77a0adba54
Autor:
Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, Takashi Hamajima, Go Tajima, Kazuyoshi Saito, Shunsuke Miyai, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi, Tetsuya Ito
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 3-9 (2023)
Abstract Mutations in transport and Golgi organization 2 homolog (TANGO2) have recently been described as a cause of an autosomal recessive syndrome characterized by episodes of metabolic crisis associated with rhabdomyolysis, cardiac arrhythmias, an
Externí odkaz:
https://doaj.org/article/dbca94f3e08340eca6fe5f9231705e2d
Autor:
Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, Tasuku Mariya, Rie Kawamura, Makiko Tsutsumi, Hidehito Inagaki, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 575-580 (2022)
Abstract Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched‐chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched‐chain α
Externí odkaz:
https://doaj.org/article/8e7589776bf14c6183443ec6dc96316b
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of
Externí odkaz:
https://doaj.org/article/74fa295534ea4b28abbb48acc9d5d11c
Publikováno v:
Surgical Case Reports, Vol 8, Iss 1, Pp 1-5 (2022)
Abstract Background Typically, in cases of adenomatous polyposis, colorectal cancer develops in the third or fourth decade of life. We report the case of a female patient with colorectal polyposis who developed adenocarcinoma at 8 years of age. Case
Externí odkaz:
https://doaj.org/article/a0a54b7377b14ac9a93a7b107c8c663a
Autor:
Yoshinari Muto, Hitomi Sasaki, Makoto Sumitomo, Hidehito Inagaki, Maki Kato, Takema Kato, Shunsuke Miyai, Hiroki Kurahashi, Ryoichi Shiroki
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-5 (2022)
Tuberous sclerosis: type of mutation affects disease presentation The ways in which a rare genetic disorder called tuberous sclerosis complex presents depends on the type of genetic mutation involved. Tuberous sclerosis is characterized by non-cancer
Externí odkaz:
https://doaj.org/article/3c260b9af0c94bfc99117d66669a47d6
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. Case presentation We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/4
Externí odkaz:
https://doaj.org/article/19dace928ea243d0a4881355ed413895
Autor:
Makiko Tsutsumi, Hiroki Miura, Hidehito Inagaki, Yasuko Shinkai, Asuka Kato, Takema Kato, Susumu Hamada-Tsutsumi, Makito Tanaka, Kazuko Kudo, Tetsushi Yoshikawa, Hiroki Kurahashi
Publikováno v:
BMC Cancer, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Aggressive systemic mastocytosis (ASM) is a rare malignant disease characterized by disordered mast cell accumulation in various organs. We here describe a female ASM patient with a previous history of ovarian dysgerminoma. Method
Externí odkaz:
https://doaj.org/article/49b2a52c6fc6445689e86956d2502ecd
Autor:
Kentaro Tsukamoto, Naoaki Shinzawa, Akito Kawai, Masahiro Suzuki, Hiroyasu Kidoya, Nobuyuki Takakura, Hisateru Yamaguchi, Toshiki Kameyama, Hidehito Inagaki, Hiroki Kurahashi, Yasuhiko Horiguchi, Yohei Doi
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Pathogenic bacteria of the genus Bartonella can induce vasoproliferative lesions during infection. Here, Tsukamoto et al. show that this effect is caused by a secreted protein that induces cell proliferation and angiogenesis by acting as an analog of
Externí odkaz:
https://doaj.org/article/7c6bada9dc8c434fa191c36a4398ea29
Autor:
Hikari Yoshizawa, Haruki Nishizawa, Hidehito Inagaki, Keisuke Hitachi, Akiko Ohwaki, Yoshiko Sakabe, Mayuko Ito, Kunihiro Tsuchida, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 15, p 4603 (2022)
Background: FLT1 is one of the significantly overexpressed genes found in a pre-eclamptic placenta and is involved with the etiology of this disease. Methods: We conducted genome-wide expression profiling by RNA-seq of placentas from women with pre-e
Externí odkaz:
https://doaj.org/article/4dc5129c9295438eb9b80c2330cb4bb7