Zobrazeno 1 - 10
of 262
pro vyhledávání: '"Shinji, Kosugi"'
Publikováno v:
Frontiers in Reproductive Health, Vol 5 (2023)
IntroductionThe aim of the study was to describe the factors influencing the reproductive decision-making of carrier parents after the diagnosis of an inherited metabolic disorder in newborn screening in Japan.MethodsWe conducted a semi-structured in
Externí odkaz:
https://doaj.org/article/daf3126761b14dc09dcf4e7b8535a0fa
Autor:
Yasuharu Tabara, Kazuya Setoh, Takahisa Kawaguchi, Shinji Kosugi, Takeo Nakayama, Fumihiko Matsuda
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Circulating levels of inflammatory proteins have to be prognostic markers of all-cause mortality. α1-Antitrypsin (AAT) is a major inflammatory plasma protein, but its association with all-cause mortality is unclear. We aimed to evaluate the
Externí odkaz:
https://doaj.org/article/1096629d25124e6ea232d1b137bf1f50
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Autor:
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis o
Externí odkaz:
https://doaj.org/article/155589ae842344c1bf48522b1d15cb79
Autor:
Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-5 (2021)
Abstract Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants
Externí odkaz:
https://doaj.org/article/83ca5c3dcbb4492cb673aafbd329d09a
Autor:
Yuki Mori, MD, Masahiro Miyake, MD, PhD, Yoshikatsu Hosoda, MD, PhD, Akihito Uji, MD, PhD, Eri Nakano, MD, Ayako Takahashi, MD, PhD, Yuki Muraoka, MD, PhD, Manabu Miyata, MD, PhD, Hiroshi Tamura, MD, PhD, Sotaro Ooto, MD, PhD, Yasuharu Tabara, PhD, Kenji Yamashiro, MD, PhD, Fumihiko Matsuda, PhD, Akitaka Tsujikawa, MD, PhD, Takeo Nakayama, MD, PhD, Akihiro Sekine, PhD, Shinji Kosugi, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 1, Iss 2, Pp 100033- (2021)
Purpose: To report fundamental epidemiologic data for choroidal parameters such as choroidal thickness and index of choroidal vascularity in Japanese individuals and to evaluate their correlations with age, sex, systemic parameters, and other ocular
Externí odkaz:
https://doaj.org/article/fffa658e8b814dac817381d95a368e3c
Autor:
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/70a42ea93a774ef6885c77b549ac60e9
Autor:
Nobuko Kawaguchi-Sakita, Noriko Senda, Yukiko Inagaki-Kawata, Hiromi Murakami, Sayaka Honda, Takahiro Yamada, Yuki Kataoka, Shoko Takahara, Shigeru Tsuyuki, Kazuhiko Yamagami, Yoshio Moriguchi, Masae Torii, Tatsushi Kato, Hirofumi Suwa, Wakako Tsuji, Eiji Suzuki, Akira Yamauchi, Ryuji Okamura, Shinji Kosugi, Masakazu Toi
Publikováno v:
Cancer Research. 83:P2-05
[Introduction] Personalized health care is recommended for the prevention and early detection of breast cancer. Advances in technology have made it possible to estimate genetic risk, PGV (pathogenic/likely-pathogenic germline variant) or PRS (polygen
Publikováno v:
Circulation Journal. 87:123-129
We assessed the awareness of multidisciplinary healthcare professionals of the challenges related to implementation of molecular autopsy (MA) for sudden cardiac death (SCD) among children and young adults.Methods and Results: We conducted 11 focus gr
Publikováno v:
Rinsho yakuri/Japanese Journal of Clinical Pharmacology and Therapeutics. 53:177-188
Autor:
Masato Yonamine, Koichiro Wasano, Yuichi Aita, Takehito Sugasawa, Katsutoshi Takahashi, Yasushi Kawakami, Hitoshi Shimano, Hiroyuki Nishiyama, Hisato Hara, Mitsuhide Naruse, Takahiro Okamoto, Tadashi Matsuda, Shinji Kosugi, Kazuhiko Horiguchi, Akiyo Tanabe, Atsushi Watanabe, Noriko Kimura, Eijiro Nakamura, Akihiro Sakurai, Kiyoto Shiga, Kazuhiro Takekoshi
Publikováno v:
Cancers, Vol 13, Iss 16, p 4014 (2021)
The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and t
Externí odkaz:
https://doaj.org/article/666a21de9804443d9d93ce3b0d8cb293