Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Sakyu"'
Autor:
Katsuya Nakamura, Saki Mukai, Yuka Takezawa, Yuika Natori, Akari Miyazaki, Yuichiro Ide, Mayu Takebuchi, Kana Nanato, Mizuki Katoh, Harue Suzuki, Akiko Sakyu, Tomomi Kojima, Emiko Kise, Hiroaki Hanafusa, Tomoki Kosho, Koichiro Kuwahara, Yoshiki Sekijima
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100983- (2023)
Introduction: Variants in the galactosidase alpha (GLA) gene cause Fabry disease (FD), an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Recently, disease-modifying therapies have been developed, and simple diag
Externí odkaz:
https://doaj.org/article/119d97007211468bbaeab2995a8ed9ad
Autor:
Nakamura, Katsuya, Yoshinaga, Tsuneaki, Sakyu, Akiko, Matsushima, Akira, Yonehara, Yuka, Kojima, Tomomi, Ishikawa, Masumi, Kise, Emiko, Kosho, Tomoki, Sekijima, Yoshiki
Publikováno v:
Amyloid; Sep2024, Vol. 31 Issue 3, p179-183, 5p
Autor:
Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi
Publikováno v:
Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive
Externí odkaz:
https://doaj.org/article/051927d1f13244f69c11c6174e04afab
Autor:
Sakyu, Takuya1,2 (AUTHOR), Stover, Samantha R.2,3,4 (AUTHOR), Wang, Yue1,2 (AUTHOR), Ward, Patricia1,2 (AUTHOR), Gandhi, Manisha3,4 (AUTHOR), Braun, Michael C.3,4,5,6 (AUTHOR), Van den Veyver, Ignatia B.2,3,4 (AUTHOR), Bi, Weimin1,2 (AUTHOR) wbi@bcm.edu
Publikováno v:
Clinical Case Reports. Feb2023, Vol. 11 Issue 2, p1-6. 6p.
Akademický článek
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Autor:
Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi
Publikováno v:
Clinical Case Reports. 11
Autor:
Takuya Sakyu, Samantha Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael Braun, Ignatia B Van den Veyver, Weimin Bi
We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive polycyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcd3d6a9c9239790f27f7ed1d7092e92
https://doi.org/10.22541/au.166314624.42664497/v1
https://doi.org/10.22541/au.166314624.42664497/v1
Autor:
Naoto Umeda, Isao Matsumoto, Akihito Ishigami, Yuya Kondo, Hiroshi Ogishima, Hiroto Tsuboi, Yuko Kurashima, Hoshimi Kawaguchi, Takuya Sakyu, Yayoi Kagami, Takayuki Sumida, Naoki Maruyama, Takeshi Suzuki
Publikováno v:
Clinical Rheumatology. 35:1181-1188
The objectives of this study are to investigate the prevalence of PAD4 and anti-PAD4 antibodies (Abs) in autoimmune diseases and to clarify their association with anticitrullinated protein antibodies (ACPAs) and shared epitope (SE) in patients with r
Autor:
Takuya Sakyu, Takashi Suzuki, Noriaki Ohuchi, Hironobu Sasano, Satoshi Inoue, Kiyoshi Takagi, Mika Watanabe, Yoshiaki Onodera, Yasuhiro Miki, Takanori Ishida, Jun Ichi Akahira
Publikováno v:
Cancer Science. 101:2670-2675
Runx2 has been proposed as one of the pivotal factors in the process of osteogenesis and metastasis in human malignancies including breast cancer, but its details have not been evaluated. Therefore, in this study, we evaluated its expression in human