Zobrazeno 1 - 10
of 701
pro vyhledávání: '"Nobuhiko Okamoto"'
Autor:
Daisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, Hisato Suzuki, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Toshiki Takenouchi, Mamiko Yamada, Daisuke Nakato, Masayuki Sato, Tatsuhiko Tsunoda, Kenjiro Kosaki, Fuyuki Miya
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC8 or ERCC6. Most pathogenic variants in ERCC8 are single nucleotide substitutions. Structural variants (SVs) have been reported in patients with ERCC8-r
Externí odkaz:
https://doaj.org/article/7b39d56800b6443c911a4141bad876ea
Autor:
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion. However, the cl
Externí odkaz:
https://doaj.org/article/d06c934531f645b5b3b06d6ea591b902
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background Rauch–Steindl syndrome (RAUST) is a very rare genetic syndrome caused by a pathogenic variant in NSD2 on chromosome 4p16.3. Although NSD2 was previously thought to be the major gene in Wolf–Hirschhorn syndrome (WHS), a contigu
Externí odkaz:
https://doaj.org/article/fd6a9b0e24244c0c98e780bcc465462c
Autor:
Sachi Tokunaga, Hideki Shimomura, Naoko Taniguchi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Yasuhiro Takeshima
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract DLG4-related synaptopathy is a neurodevelopmental disorder caused by a DLG4 variant. We identified a novel de novo heterozygous frameshift variant, NM_001321075.3(DLG4):c.554_563del, in a Japanese girl. Intellectual regression without motor
Externí odkaz:
https://doaj.org/article/7a1aace2aa544f5c862982906ea4209e
Autor:
Yuki Masuda, Yoko Nagayasu, Hikaru Murakami, Ruri Nishie, Natsuko Morita, Sosuke Hashida, Atsushi Daimon, Misa Nunode, Hiroshi Maruoka, Masae Yoo, Takumi Sano, Yutaka Odanaka, Satoe Fujiwara, Daisuke Fujita, Nobuhiko Okamoto, Masahide Ohmichi
Publikováno v:
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-7 (2023)
Abstract Background Congenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3–9%), the causative genes for this disease are still being elucidated. PLD1 (Phospholipase D1) is a recently discovered gene;
Externí odkaz:
https://doaj.org/article/ddf60821a9ee421c8ece6e890976e00f
Autor:
Seiji Hashimoto, Nobuhiko Okamoto, Tomochika Maoka, Rie Yamamoto, Shinichi Araki, Akira Suzuki, Yuichiro Fukasawa, Takao Koike
Publikováno v:
Case Reports in Nephrology and Dialysis, Vol 13, Iss 1, Pp 120-128 (2023)
The patient was a woman in her 60s. She was found to have proteinuria on a health checkup. She did not have any particular subjective symptoms, and no definitive diagnosis was made, despite serological findings indicative of immune abnormalities. A r
Externí odkaz:
https://doaj.org/article/de33ab90dcc84ac69e7e12cace2e6e93
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103221- (2023)
Takenouchi-Kosaki Syndrome (TKS) is a congenital multi-organ disorder caused by the de novo missense mutation c.191A > G p. Tyr64Cys (Y64C) in the CDC42 gene. We previously elucidated the functional abnormalities and thrombopoietic effects of Y64C us
Externí odkaz:
https://doaj.org/article/85b9f7fe9551435588a1192bc68ab477
Autor:
Toshiyuki Itai, Atsushi Sugie, Yohei Nitta, Ryuto Maki, Takashi Suzuki, Yoichi Shinkai, Yoshihiro Watanabe, Yusuke Nakano, Kazushi Ichikawa, Nobuhiko Okamoto, Yasuhiro Utsuno, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Yuri Uchiyama, Naomi Tsuchida, Noriko Miyake, Kazuharu Misawa, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract The Drosophila behavior/human splicing protein family is involved in numerous steps of gene regulation. In humans, this family consists of three proteins: SFPQ, PSPC1, and NONO. Hemizygous loss-of-function (LoF) variants in NONO cause a deve
Externí odkaz:
https://doaj.org/article/5f0d682f4c2d4892ad0ade18f7ec2c5c
Autor:
Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract We report clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Patient 1 exhibited a unique constellation of clinical features including marked hy
Externí odkaz:
https://doaj.org/article/e26226f888b84c3dbfc3918a055ce68e
Autor:
Kana Unuma, Dan Tomomasa, Kosuke Noma, Kouhei Yamamoto, Taka-aki Matsuyama, Yohsuke Makino, Atsushi Hijikata, Shuheng Wen, Tsutomu Ogata, Nobuhiko Okamoto, Satoshi Okada, Kenichi Ohashi, Koichi Uemura, Hirokazu Kanegane
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Herein, we report a child with COVID-19 and seemingly no underlying disease, who died suddenly. The autopsy revealed severe anemia and thrombocytopenia, splenomegaly, hypercytokinemia, and a rare ectopic congenital coronary origin. Immunohistochemica
Externí odkaz:
https://doaj.org/article/3810d0a8a0a54586b1fdf9e9adfad421