Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Yusuke Okuno, Shinji Saitoh, Noriko Nagai, Taichi Kato, Hidenori Yamamoto, Yoshiyuki Takahashi, Kohji Kato, Satoshi Hayano, Atsuto Onoda, Yoshie Fukasawa
Publikováno v:
International Journal of Cardiology. 326:81-87
Background A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects. However, the molecular mechanisms of this syndrome remain unknown. In this study, we found a novel ABL1 mutation in a Japanese family with v
Autor:
Akihisa Okumura, Chikako Ogawa, Tetsuo Kubota, Hirokazu Kurahashi, Yuji Ito, Shunsuke Ogaya, Shinji Saitoh, Ayako Hattori, Motomasa Suzuki, Takeshi Tsuji, Naoko Ishihara, Hiroyuki Kidokoro, Jun Natsume, Tatsuya Fukasawa
Publikováno v:
Pediatric Neurology. 109:79-84
Objective To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. Study design We investigated clinical and diffusion-we
Autor:
Mitsuhiro Kato, Koh-ichi Nagata, Nobuhiko Okamoto, Yoko Narumi-Kishimoto, Yonehiro Kanemura, Hiroshi Ozawa, Hidenori Ito, Kohji Kato, Ikumi Hori, Kenjiro Kosaki, Shinji Saitoh, Yoshiyuki Takahashi, Tatsuhiko Tsunoda, Nanako Hamada, Yutaka Negishi, Ayako Hattori, Fuyuki Miya
Publikováno v:
Journal of Medical Genetics. 56:388-395
BackgroundIn this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disabil
Autor:
Norihisa Koyama, Yuka Watanabe, Shinji Saitoh, Takahiro Sugiura, Masanori Kouwaki, Mari Sugimoto, Yasuko Togawa
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 7 (2019)
Frontiers in Pediatrics, Vol 7 (2019)
Virus-associated hemophagocytic syndrome (VAHS) in the neonatal period has a high mortality. Although clear diagnostic criteria and treatment methods have not been established, early diagnosis and treatment are critical. However, treatments for VAHS
Autor:
Mari Sugimoto, Yasushi Okazaki, Shinji Saitoh, Akira Ohtake, Kei Murayama, Kaori Aiba, Yukiko Yatsuka, Yuji Nakamura, Kenji Yokochi
Publikováno v:
European Journal of Medical Genetics. 64:104251
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is caused by a mutation in ATRX, which is essential for proper chromatin remodeling. ATRX dysfunction leads to dysregulation of many genes due to abnormal chromatin remodeling, and c
Autor:
Hitoshi Tajiri, Yasuhiro Wakano, Takeshi Endo, Shinji Saitoh, Tokio Sugiura, Mitsuyoshi Suzuki, Koichi Ito, Yasuhito Tanaka
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 44:566-569
Mother-to-child transmission of the hepatitis B virus (HBV) is a major concern for infected mothers, especially after their first child has become an HBV carrier despite immunoprophylaxis. Eight mothers whose first child had become an HBV carrier des
Autor:
Shinji Saitoh, Mitsuhiro Kato, Nobuhiko Okamoto, Mami Yamasaki, Yonehiro Kanemura, Fuyuki Miya, Tatsuhiko Tsunoda, Kenjiro Kosaki
Publikováno v:
American Journal of Medical Genetics Part A. 173:1644-1648
We identified a novel mutation in ASH1L in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the t
Autor:
Masafumi Miyata, Shinji Saitoh, Nobuhiko Okamoto, Fuyuki Miya, Setsuri Yokoi, Makiko Tsutsumi, Mami Yamasaki, Tatsuhiko Tsunoda, Hiroki Kurahashi, Yonehiro Kanemura, Kenjiro Kosaki, Mitsuhiro Kato
Publikováno v:
European Journal of Human Genetics. 24:1702-1706
It has been well documented that variants in genes encoding centrosomal proteins cause primary autosomal recessive microcephaly, although the association between centrosomal defects and the etiology of microcephaly syndromes is not fully understood.
Autor:
Takao Togawa, Shogo Ito, Shinji Saitoh, Yasuhito Tanaka, Takashi Kondo, Masaaki Shimada, Noboru Urata, Noboru Hirashima, Masashi Saito, Hisashi Kondo, Takuya Tsunekawa, Satoshi Unita, Daiki Tanaka, Hiroaki Iwase
Publikováno v:
Clinical journal of gastroenterology. 13(5)
A 60-year-old male, who exhibited finger tremors, obnubilation, and hyperammonemia (409 μg/dL), was admitted to our hospital. Initially, we suspected that a portosystemic shunt had caused his hyperammonemia. However, his symptoms did not improve aft
Autor:
Mitsuhiro Kato, Yasuhiro Suzuki, Kenjiro Kosaki, Shinji Saitoh, Mami Yamasaki, Yoshikazu Hatsukawa, Fuyuki Miya, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Yuto Yamamoto, Yonehiro Kanemura, Kazumi Kawato
Publikováno v:
Journal of Human Genetics. 62:927-929
Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare.