Zobrazeno 1 - 10
of 208
pro vyhledávání: '"Seiji, Mizuno"'
Autor:
Xin‐Ming Shen, Tomohiko Nakata, Seiji Mizuno, Issei Imoto, Duygu Selcen, Kinji Ohno, Andrew G. Engel
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 732-743 (2023)
Abstract Objective To dissect the kinetic defects of acetylcholine receptor (AChR) γ subunit variant in an incomplete form of the Escobar syndrome without pterygium and compare it with those of a variant of corresponding residue in the AChR ε subun
Externí odkaz:
https://doaj.org/article/12fb62f583b14adf8b8977384aad2bd7
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract Sotos syndrome is usually caused by haploinsufficiency of NSD1; it is characterized by overgrowth, craniofacial features, and learning disabilities. We describe a boy with Sotos syndrome caused by a splicing variant (c.4378+5G>A). The clinic
Externí odkaz:
https://doaj.org/article/2a306ce206f649aa90b437b2ba9fc969
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
Autor:
Daisuke Ichikawa, Kyoko Yamashita, Yusuke Okuno, Hideki Muramatsu, Norihiro Murakami, Kyogo Suzuki, Daiei Kojima, Shinsuke Kataoka, Motoharu Hamada, Rieko Taniguchi, Eri Nishikawa, Nozomu Kawashima, Atsushi Narita, Nobuhiro Nishio, Asahito Hama, Kenji Kasai, Seiji Mizuno, Yoshie Shimoyama, Masato Nakaguro, Hajime Okita, Seiji Kojima, Atsuko Nakazawa, Yoshiyuki Takahashi
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pediatric solid tumors are a heterogeneous group of neoplasms with over 100 subtypes. Clinical and histopathological diagnosis remains challenging due to the overlapping morphological and immunohistochemical findings and the presence of atyp
Externí odkaz:
https://doaj.org/article/29a8e03506ee4c179df83a3260a0ed05
Autor:
Yoshihiro Nishida, Kunihiro Ikuta, Atsushi Natsume, Naoko Ishihara, Maki Morikawa, Hiroyuki Kidokoro, Yukako Muramatsu, Norie Nonobe, Kanako Ishizuka, Takuya Takeichi, Miki Kanbe, Seiji Mizuno, Shiro Imagama, Norio Ozaki
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder. Clinicians must be aware of the diverse clinical features of this disorder in order to provide optimal care for it. We have set up an NF1 in-hospital medical care network of s
Externí odkaz:
https://doaj.org/article/dca033207aef4ba5accb41d21df64b1d
Autor:
Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 3109-3114 (2020)
Abstract This article reports a girl with Bardet‐Biedl syndrome (BBS) having a novel causative mutation who developed Legg‐Calvé‐Perthes disease (LCPD). There exists a possibility that the prognosis of LCPD had been adversely affected by the c
Externí odkaz:
https://doaj.org/article/c903355b8ee74bb685bdffe65ba9f109
Autor:
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and
Externí odkaz:
https://doaj.org/article/80124a98602c4794863224c650289c08
Autor:
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Publikováno v:
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-10 (2017)
Abstract Background Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypometh
Externí odkaz:
https://doaj.org/article/7eca2377d6064342b9054fb0551c24b9
Autor:
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato
Publikováno v:
Journal of Medical Genetics. 60:359-367
PurposeThe Retriever subunitVPS35Lis the third responsible gene for Ritscher-Schinzel syndrome (RSS) afterWASHC5andCCDC22. To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a103af248072009599c3a071f407cb0
https://doi.org/10.1136/jmg-2022-108602
https://doi.org/10.1136/jmg-2022-108602
Autor:
Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Onishi, Hiromi Kamura, Kazuaki Kojima, Hiroki Kikuchi, Miho Terao, Tohru Sugawara, Ohsuke Migita, Masayo Kagami, Tsuyoshi Isojima, Yu Yamaguchi, Keiko Wakui, Hirofumi Ohashi, Kenji Shimizu, Seiji Mizuno, Nobuhiko Okamoto, Yoshimitsu Fukushima, Fumio Takada, Kenjiro Kosaki, Shuji Takada, Hidenori Akutsu, Kiyoe Ura, Kazuhiko Nakabayashi, Kenichiro Hata
PurposeWolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by the hemizygous deletion of the distal short arm of chromosome 4 whereNSD2is, reportedly exhibits specific DNA methylation signatures in peripheral blood cells. However, respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bf314c316d110e2bb983466a7a44174
https://doi.org/10.1101/2023.01.06.522834
https://doi.org/10.1101/2023.01.06.522834
