Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Farnaz Hosseini Beheshti, Noriko Miyake, Shermineh Heydari, Jafar Nasiri, Shinji Saitoh, Ahmad Reza Salehi Chaleshtori, Naomichi Matsumoto, Kohei Hamanaka, Atsushi Takata, Masoud Garshasbi
Publikováno v:
Journal of Human Genetics. 66:445-448
Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the
Autor:
Akiko Tamasaki, Ikumi Hori, Masayoshi Oguri, Hiroyuki Yamada, Yoshihiro Maegaki, Shinji Saitoh
Publikováno v:
Yamada Hiroyuki, Tamasaki Akiko, Oguri Masayoshi, et al. Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome. EPILEPTIC DISORDERS. 2020. 22(5). 673-677. doi:10.1684/epd.2020.1212
Pitt-Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22-year-old woman
Autor:
Akira Kinoshita, Tatsuya Kishino, Ryoichi Mori, Naoko Asahina, Yutaka Negishi, Hideaki Shiraishi, Kana Hosoki, Koh-ichiro Yoshiura, Masahiro Nakashima, Kiyotaka Tomiwa, Katsuya Matsuda, Shinji Saitoh, Hiroyuki Mishima, Naoko Ishihara, Susumu Tanimura, Kaname Ohyama
Publikováno v:
Development. 148
Mutations in ITPR1 cause ataxia and aniridia in individuals with Gillespie syndrome (GLSP). However, the pathogenic mechanisms underlying aniridia remain unclear. We identified a de novo GLSP mutation hotspot in the 3′-region of ITPR1 in five indiv
Autor:
Kenjiro Kosaki, Shinji Saitoh, Yonehiro Kanemura, Yukihiro Kitai, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Fuyuki Miya
Publikováno v:
Neurological Sciences.
Mutations of theADCY5 have been identified in patients with familial dyskinesia, early-onsetautosomal dominant chorea and dystonia, and benign hereditary chorea. Most ofthe ADCY5 mutations are de novo or transmitted in an autosomal dominantfashion. O
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 63(12)
Autor:
Ayako Hattori, Ikumi Hori, Hirotomo Saitsu, Daisuke Ieda, Shinji Saitoh, Mitsuko Nakashima, Takuya Hiraide
Publikováno v:
Epilepsia Open
Epilepsia Open, Vol 4, Iss 3, Pp 476-481 (2019)
Epilepsia Open, Vol 4, Iss 3, Pp 476-481 (2019)
Epilepsy with myoclonic absences is a specific seizure type characterized by bilateral rhythmic clonic jerks with impairment of consciousness. Here, we report an individual with epilepsy with myoclonic absences, mild intellectual disabilities, langua
Autor:
Tomoko Fuke, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami, Kazuhito Satou, Kenichiro Hata, Keiko Matsubara, Maki Fukami, Kazuhiko Nakabayashi, Nobuyuki Murakami, Kazuki Yamazawa, Kaori Hara-Isono
Publikováno v:
Clinical Epigenetics
Background Imprinting disorders (IDs) show overlapping phenotypes, particularly in Silver–Russell syndrome (SRS), Temple syndrome (TS14), and Prader–Willi syndrome (PWS). These three IDs include fetal and postnatal growth failure, feeding difficu
Publikováno v:
Journal of human genetics. 66(5)
CUL3 forms Cullin-Ring ubiquitin ligases (CRL) with Ring-box protein and BTB-adaptor proteins. A variety of BTB-adaptor proteins have been reported to interact with the N-terminus of CUL3, which makes it possible to recognize various substrates for d
Autor:
Nobuhiko, Okamoto, Fuyuki, Miya, Yukihiro, Kitai, Tatsuhiko, Tsunoda, Mitsuhiro, Kato, Shinji, Saitoh, Yonehiro, Kanemura, Kenjiro, Kosaki
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 42(7)
Mutations of theADCY5 have been identified in patients with familial dyskinesia, early-onsetautosomal dominant chorea and dystonia, and benign hereditary chorea. Most ofthe ADCY5 mutations are de novo or transmitted in an autosomal dominantfashion. O
Autor:
Mayu Fujikawa, Yurika Numata-Uematsu, Takashi Shiihara, Mitsugu Uematsu, Tomoko Kobayashi, Shinji Saitoh, Ayako Hattori, Noriko Togashi, Kei Ohashi, Shigeo Kure, Yu Aihara
Publikováno v:
Epilepsybehavior : EB. 111
Background Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have a large impact on patients and their families. Improving intellectual ability outcomes using preventive vigabatrin (VGB) treatment has recently been reporte