Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Asami Hirakiyama"'
Autor:
Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 3-9 (2018)
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 seque
Externí odkaz:
https://doaj.org/article/c0eff96168d641809ed4cbfb372f483c
Autor:
Yuko Okamura-Oho, Kazuro Shimokawa, Satoko Takemoto, Asami Hirakiyama, Sakiko Nakamura, Yuki Tsujimura, Masaomi Nishimura, Takeya Kasukawa, Koh-hei Masumoto, Itoshi Nikaido, Yasufumi Shigeyoshi, Hiroki R Ueda, Gang Song, James Gee, Ryutaro Himeno, Hideo Yokota
Publikováno v:
PLoS ONE, Vol 7, Iss 9, p e45373 (2012)
Increased information on the encoded mammalian genome is expected to facilitate an integrated understanding of complex anatomical structure and function based on the knowledge of gene products. Determination of gene expression-anatomy associations is
Externí odkaz:
https://doaj.org/article/e33dc0382dce43afbdc56193511142e3
Autor:
Motomichi Kosuga, Narutoshi Yamazaki, Joo-Hyun Seo, Naoko Fuji, Ryuichi Mashima, Asami Hirakiyama, Yasuyuki Fukuhara, Torayuki Okuyama, Tetsuharu Kamioka
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 3-9 (2018)
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 3-9 (2018)
Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells. Thus far, 558 seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df2beff88262b3c12e7ae2308556799f
https://doi.org/10.1016/j.ymgmr.2017.10.009
https://doi.org/10.1016/j.ymgmr.2017.10.009
Autor:
Motomichi Kosuga, Kei Fukada, Asami Hirakiyama, Makoto Kinoshita, Aya Narita, Tatsuhiko Ozono, Torayuki Okuyama
Publikováno v:
Journal of the Neurological Sciences. 388:4-6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92d61425ccf55dd2c8ee61092099f276
https://doi.org/10.1016/j.jns.2018.02.030
https://doi.org/10.1016/j.jns.2018.02.030
Autor:
Naoko Fuji, Motomichi Kosuga, Seiji Saito, Asami Hirakiyama, Hitoshi Sakuraba, Kazuki Ohno, Joo-Hyun Seo, Mari Nikaido, Tadayuki Kumagai, Ryuichi Mashima, Torayuki Okuyama
Publikováno v:
Molecular genetics and metabolism. 118(3)
Mucopolysaccharidosis type II (MPS II: also called as Hunter syndrome) is an X-linked recessive lysosomal storage disorder characterized by the accumulation of extracellular glycosaminoglycans due to the deficiency of the enzyme iduronate-2-sulfatase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d8cb9371b10014dfd6c7f91fbaf4f38
https://pubmed.ncbi.nlm.nih.gov/27246110
https://pubmed.ncbi.nlm.nih.gov/27246110
Autor:
Akira Ishiko, Jun Kudoh, Masayuki Amagai, Keisuke Kosaki, Atsuhito Seki, Keiji Tanese, A. Ogo, Aiko Shiohama, Taketo Yamada, H. Niizeki, Kenji Kabashima, Masayuki Miyasaka, Asami Hirakiyama, Torayuki Okuyama, K. Nakabayashi, Maiko Matsuda, Takashi Sasaki, Kentaro Matsuoka, Atsushi Otsuka
Publikováno v:
Journal of Dermatological Science. 75:193-195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a89e0dee56fcac1d61200deff2ff90f7
https://doi.org/10.1016/j.jdermsci.2014.05.008
https://doi.org/10.1016/j.jdermsci.2014.05.008
Autor:
Keiji Tanese, Asami Hirakiyama, Takashi Sasaki, Masayuki Amagai, Akira Ishiko, M. Takeshita, Atsuhito Seki, Aiko Shiohama, Jun Kudoh, Atsushi Otsuka, H. Niizeki, Kenji Kabashima, Torayuki Okuyama
Publikováno v:
British Journal of Dermatology. 170:1187-1189
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99f95cac68d7252335c2a95dfe12e832
https://doi.org/10.1111/bjd.12790
https://doi.org/10.1111/bjd.12790
Autor:
Satsuki Tanaka, Yoshiki Miyachi, Kyoko Nakahigashi, Yoshiaki Okajima, Hiromi Doi, Kenji Kabashima, Hironori Niizeki, Atsushi Otsuka, Asami Hirakiyama
Publikováno v:
Acta Dermato Venereologica. 93:118-120
Pachydermoperiostosis (PDP), a form of primary hypertrophic osteoarthropathy (PHO), is a rare hereditary disease diagnosed by the presence of the triad of digital clubbing, periostosis, and pachydermia (1, 2). Elevated prostaglandin E2 (PGE2) level
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2c9eb668af4200206e134ba583d0a02
https://doi.org/10.2340/00015555-1398
https://doi.org/10.2340/00015555-1398
Publikováno v:
Molecular Genetics and Metabolism. 117:S87
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97351cc9379e1cee0b1ee6292ff7457f
https://doi.org/10.1016/j.ymgme.2015.12.381
https://doi.org/10.1016/j.ymgme.2015.12.381
Autor:
Akira Ishiko, Makoto Suematsu, Atsuhito Seki, Shun Ichi Miyakawa, Hideyuki Okano, Masayuki Amagai, Asami Hirakiyama, Kenji Kabashima, Keiji Tanese, Atsushi Shimizu, Jun Kudoh, Jun-ichi Sakabe, Takashi Sasaki, Hironori Niizeki, Aiko Shiohama, Atsushi Otsuka, Torayuki Okuyama, Masamitsu Kuwahara
Publikováno v:
Journal of dermatological science. 68(1)
Background Pachydermoperiostosis (PDP) is a rare genetic disorder characterized by 3 major symptoms: pachydermia including cutis verticis gyrata (CVG), periostosis, and finger clubbing. Recently, a homozygous mutation in the gene HPGD, which encodes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bd686cd6112424021567944c1e441a
https://pubmed.ncbi.nlm.nih.gov/22906430
https://pubmed.ncbi.nlm.nih.gov/22906430