Zobrazeno 1 - 10
of 416
pro vyhledávání: '"Kazuo, Kubota"'
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who had three possibly pathogenic de novo variants, c.358
Externí odkaz:
https://doaj.org/article/8acddef92d0a44a4af5a7256955701de
Autor:
Shogo Furukawa, Sachiko Miyamoto, Shinobu Fukumura, Kazuo Kubota, Toshiaki Taga, Mitsuko Nakashima, Hirotomo Saitsu
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract Variants in ATP1A3 cause neuropsychiatric disorders, especially those characterized by movement disorders. In this study, we performed whole exome sequencing for two patients with movement disorders and identified two novel heterozygous ATP1
Externí odkaz:
https://doaj.org/article/6630bd805fb444b28dd9a7bcfee0fe68
Autor:
Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, Masaya Kubota, Takashi Shiihara, Tohru Okanishi, Ryuta Tanaka, Ichiro Kuki, Tetsuhiro Fukuyama, Mitsuru Kashiwagi, Mitsuru Ikeno, Kazuo Kubota, Manami Akasaka, Masakazu Mimaki, Akihisa Okumura
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Objective We examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis complex (TSC). Methods The clinical data of 11 children with clinically diagnosed TSC associa
Externí odkaz:
https://doaj.org/article/1355176fa3e24f4c807cd92d8458cae2
Autor:
Hiroki, Kawai, Shigeo, Takashima, Akiko, Ohba, Kayoko, Toyoshi, Kazuo, Kubota, Hidenori, Ohnishi, Nobuyuki, Shimozawa
Publikováno v:
Brain and Development. 45:58-69
Bile acid intermediates, 3α,7α,12α-trihydroxycholestanoic acid (THCA) and 3α,7α-dihydroxycholestanoic acid (DHCA), are metabolized in peroxisomes. Some peroxisomal disorders (PDs), such as Zellweger spectrum disorder (ZSD), show an accumulation
Autor:
Nobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, Kazuo Kubota, Hideo Sasai, Kenji Orii, Megumi Ogawa, Hidenori Ohnishi
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 3, p 58 (2021)
We established a diagnostic system for adrenoleukodystrophy (ALD) and peroxisomal disorders (PD) over 35 years ago in Japan, and have diagnosed 237 families with ALD and more than 100 cases of PD other than ALD using biochemical and molecular analyse
Externí odkaz:
https://doaj.org/article/74c6dd4f35fc451c993b5417ea8715bc
Autor:
Toshihiko Wakabayashi, Toshihiko Iuchi, Naohiro Tsuyuguchi, Ryo Nishikawa, Yoshiki Arakawa, Takashi Sasayama, Keisuke Miyake, Tadashi Nariai, Yoshitaka Narita, Naoya Hashimoto, Osamu Okuda, Hiroshi Matsuda, Kazuo Kubota, Kimiteru Ito, Yoichi Nakazato, Kan Kubomura
Publikováno v:
Asia Oceania Journal of Nuclear Medicine and Biology, Vol 5, Iss 1, Pp 10-21 (2017)
Objective(s): The study objective was to assess the diagnostic performance of positron emission tomography (PET) for gliomas using the novel tracer 18F-fluciclovine (anti-[18F]FACBC) and to evaluate the safety of this tracer in patients with clinical
Externí odkaz:
https://doaj.org/article/4fa90c4a81a04b879b40b7a849483338
Publikováno v:
Annals of Nuclear Medicine
Purpose Reactive FDG uptake in the axillary lymph nodes (ALN) and deltoid muscle (DM) after COVID-19 mRNA vaccination has been recognized, although the actual situation in the Japanese population remains unknown. To determine the incidence of reactiv
Autor:
Hiroshi Matsuda, Ryo Nishikawa, Naoki Kagawa, Tadateru Fukami, Takashi Terauchi, Yoshitaka Narita, Keisuke Miyake, Kazuo Kubota, Toshihiko Wakabayashi, Ryogo Minamimoto, Hikaru Sasaki, Akihide Kondo, Naohiro Tsuyuguchi, Kan Kubomura, Takashi Sasayama, Masatoshi Wada, Yoichi Nakazato, Tadashi Nariai, Yoshiki Arakawa, Toshihiko Iuchi, Yuichi Hirose
Publikováno v:
Annals of Nuclear Medicine. 35:1279-1292
Glioma is the most common type of central nervous system tumor reported worldwide. Current imaging technologies have limitations in the diagnosis and assessment of glioma. The present study aimed to confirm the diagnostic efficacy and safety of anti-
Autor:
Hiroyuki, Takahashi, Hiroyuki, Yamashita, Miyako, Morooka, Kazuo, Kubota, Yuko, Takahashi, Hiroshi, Kaneko, Toshikazu, Kano, Akio, Mimori
Publikováno v:
In Revue du rhumatisme October 2014 81(5):407-412
Autor:
Tugce B. Balci, Paul R. Mark, Sedlácek Z, Krista Sondergaard Schatz, Tadashi Kaname, Christiane Zweier, Hidenori Ohnishi, Ingrid M. Wentzensen, Solveig Heide, Weimin Bi, A. Baxova, Antje Wiesener, Nancy J. Cox, Devon Haynes, David Rodriguez-Buritica, Sarka Bendova, Nobuhiko Okamoto, Tomoko Uehara, Oana Caluseriu, Koichi Kawakami, Victoria Mok Siu, Alfredo Brusco, Boris Keren, Jennifer M. Lemons, David J. Amor, Patrick Rump, Marie T. McDonald, George E. Hoganson, Miroslava Hancarova, Gina M. Morley, Maria A. Magriña, Sarah Montgomery, Lei Wang, Seema R. Lalani, Kazuo Kubota, Mohammed Al-raqad, Patricia G Wheeler, Haley Streff, Fuad Chowdhury, Elisa Biamino, Meral Gunay-Aygun, Tawfiq Froukh, Kenjiro Kosaki, Jagdeep S. Walia
Publikováno v:
Paediatrics Publications
Genetics in Medicine, 23(7), 1234-1245. Nature Publishing Group
Genetics in Medicine, 23(7), 1234-1245. Nature Publishing Group
Purpose: Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted loss-of-function variants in this gene are extremely rare, indicating high intolerance of hap