Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kohji Kato"'
Autor:
Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi
Publikováno v:
Genet Med
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057
https://europepmc.org/articles/PMC9923403/
https://europepmc.org/articles/PMC9923403/
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:
Daisuke Ieda, Tomomi Miyamoto, Makoto Nakanishi, Yutaka Negishi, Kohji Kato, Shinya Ugawa, Hisashi Oishi, Natsuko Kumamoto, Shinji Saitoh, Ichiro Miyoshi, Yoshikazu Johmura
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
PLoS ONE
PLoS ONE
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome
Autor:
Yoshinao Wada, Yohei Iguchi, Miho Toyama, Kohji Kato, Tomoo Ogi, Nobuhiko Okamoto, Ryoichi Nakamura, Kentaro Sahashi, Kunihiko Araki, Daisuke Ito, Kensuke Hamada, Tomohiko Nakamura, Masahisa Katsuno
Publikováno v:
Epilepsy Research. 164:106371
We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient wi
Autor:
Yuji Nakamura, Naomi Tsuchida, Yoshiyuki Takahashi, Shinji Saitoh, Kohji Kato, Naomichi Matsumoto
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
There have been increasing number of reports of SZT2-related neurological diseases, the main symptoms of which are epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. SZT2 functions as a regulator of mechanistic target of ra
Autor:
Shinobu Fukumura, Ikumi Hori, Seiji Mizuno, Yutaka Negishi, Ayako Hattori, Daisuke Ieda, Kei Ohashi, Mie Inaba, Shinji Saitoh, Kohji Kato, Naoko Kurahashi, Koichi Maruyama
Publikováno v:
Braindevelopment. 40(8)
Background Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas
Autor:
Eiichi Ishii, Daisuke Tomizawa, Tomoko Kuno, Shuki Mizutani, Katsuyoshi Koh, Tatsutoshi Nakahata, Jun Nagayama, Atsushi Ogawa, Tomoko Kishimoto, Kanji Sugita, Takashi Sato, Yoshihiro Takahashi, Noriko Hotta, Yoshihisa Nagatoshi, Kohji Kato, Keizo Horibe
Publikováno v:
Blood. 107(12)
Although infants with acute lymphoblastic leukemia (ALL) and a germline MLL gene have a better prognosis than comparable infants with a rearranged MLL gene, their optimal therapy is controversial. In 2 consecutive studies, conducted between 1996 and
Autor:
Kyoichi Mizuno, Syunsuke Nakamura, Masahiro Yasutake, Kuniya Asai, Koji Murai, Hitoshi Takano, Yukichi Tokita, Gen Takagi, Asuka Yoshida, Kohji Kato, Shigenobu Inami, Masamichi Takano
Publikováno v:
International Heart Journal. 53:261-262
A 58-year-old male with a history of prior myocardial infarction, hypertension, and dyslipidemia was admitted due to deteriorating exertional angina. A bare metal stent (Multilink plus™, GUIDANT Corporation, Santa Clara, CA, USA) had been implanted