Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Ayumi, Matsumoto"'
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Autor:
Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, Kazuhisa Watanabe, Hironori Takahashi, Takanori Yamagata, Takayoshi Matsumura, Hitoshi Osaka, Harushi Mori, Sadahiko Iwamoto
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low
Externí odkaz:
https://doaj.org/article/1d36231f86614acb8ca5b90f72cc25d5
Autor:
Saeko Sugiyama, Hiroshi Matsushita, Akira Minami, Hatsune Nakao, Shota Hata, Ayumi Matsumoto, Hideyuki Takeuchi, Akihiko Wakatsuki
Publikováno v:
Diseases, Vol 12, Iss 10, p 250 (2024)
Background/Objectives: In Southeast Asia, the traditional use of young coconut (Cocos nucifera L.) juice (YCJ) by women to alleviate postmenopausal symptoms suggests potential estrogenic properties. However, few studies explore the impact of YCJ on p
Externí odkaz:
https://doaj.org/article/8a23d067119d4cf9ae7f6cc330024570
Autor:
Seiichi Yasuda, Kazunori Inoue, Isao Matsui, Ayumi Matsumoto, Yusuke Katsuma, Hiroki Okushima, Atsuhiro Imai, Yusuke Sakaguchi, Jun-ya Kaimori, Ryohei Yamamoto, Masayuki Mizui, Yoshitaka Isaka
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Fibroblast growth factor 23, parathyroid hormone, and 1,25-dihydroxyvitamin D are critical in phosphate homeostasis. Despite these factors’ importance, regulators of phosphaturia in the acute postprandial phase remain largely unknown. This
Externí odkaz:
https://doaj.org/article/5f63537a00b54eb08d6fb8709bd33320
Autor:
Ken Yoshida, Kazuha Yokota, Kazuhisa Watanabe, Hidetoshi Tsuda, Ayumi Matsumoto, Hiroaki Mizukami, Sadahiko Iwamoto
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Our previous genome-wide association study to explore genetic loci associated with lean nonalcoholic fatty liver disease (NAFLD) in Japan suggested four candidate loci, which were mapped to chr6, chr7, chr12 and chr13. The present study aime
Externí odkaz:
https://doaj.org/article/594f6d5843124dcca237cbbd4eba4376
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Abstract We previously revealed that Kbtbd11 mRNA levels increase during 3T3-L1 differentiation and Kbtbd11 knockdown suppresses whereas its overexpression promotes adipogenesis. However, how Kbtbd11 mRNA is regulated during adipocyte differentiation
Externí odkaz:
https://doaj.org/article/611f3fb2591843ac92bb286b41e2223d
Autor:
Tatsufumi Oka, Takayuki Hamano, Tomohito Ohtani, Yohei Doi, Karin Shimada, Ayumi Matsumoto, Satoshi Yamaguchi, Nobuhiro Hashimoto, Masamitsu Senda, Yusuke Sakaguchi, Isao Matsui, Kei Nakamoto, Fusako Sera, Shungo Hikoso, Yasushi Sakata, Yoshitaka Isaka
Publikováno v:
ESC Heart Failure, Vol 8, Iss 6, Pp 4904-4914 (2021)
Abstract Aims In previous randomized controlled trials, the use of tolvaptan (TLV) at a fixed dose of 30 mg/day for 1 year did not provide renal benefits in patients with heart failure (HF). This retrospective, cohort study examined the renoprotectiv
Externí odkaz:
https://doaj.org/article/156c13efd31d4e8a9938d0ebf626927e
Publikováno v:
Journal of Diabetes Investigation, Vol 12, Iss 11, Pp 1958-1966 (2021)
ABSTRACT Aims/Introduction It was reported previously that N4bp2l1 expression increases in 3T3‐L1 cells in a differentiation‐dependent manner and N4bp2l1 knockdown suppresses adipocyte differentiation. However, the physiological function of N4BP2
Externí odkaz:
https://doaj.org/article/d3f56c1646a64573a70d8297fa0ef266
Autor:
Ayumi Matsumoto, Isao Matsui, Keiji Mano, Hitoshi Mizuno, Yusuke Katsuma, Seiichi Yasuda, Karin Shimada, Kazunori Inoue, Takashi Oki, Tadashi Hanai, Keiko Kojima, Tetsuya Kaneko, Yoshitaka Isaka
Publikováno v:
BMC Nephrology, Vol 22, Iss 1, Pp 1-5 (2021)
Abstract Background Phospholipase A2 receptor 1 (PLA2R1) and thrombospondin type-1 domain-containing 7A (THSD7A) are the two major pathogenic antigens for membranous nephropathy (MN). It has been reported that THSD7A-associated MN has a higher preval
Externí odkaz:
https://doaj.org/article/b35de5aa1be14de0b542d05103497152
Autor:
Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui, Masako Kawada‐Nagashima, Tatsuya Anzai, Mitsuru Seki, Kazuhisa Watanabe, Kazuhiro Muramatsu, Hitoshi Osaka, Sadahiko Iwamoto, Ichizo Nishino, Takanori Yamagata
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract Background Actin, alpha, skeletal muscle 1 (ACTA1) is one of the causative genes of nemaline myopathy (NM) and congenital fiber‐type disproportion (CFTD). CFTD is characterized by type 1 fiber atrophy and distinguished from NM in the absen
Externí odkaz:
https://doaj.org/article/107beb8987694f328b4e85f3797128db
Autor:
Kazuhisa Watanabe, Kazuhiro Nakayama, Satoshi Ohta, Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiko Iwamoto
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Ildr2 was initially identified as a genetic modifier of diabetes susceptibility in B6.DBA Lep ob congenic mice, and was associated with decreased β-cell replication rates, reduced β-cell mass, and persistent mild hypoinsulinemic hyperglyce
Externí odkaz:
https://doaj.org/article/04dd66a84d6c4d78bf181fad4c433081