Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Seiya Urae"'
Autor:
Taeko Hashimoto, Yutaka Harita, Keiichi Takizawa, Seiya Urae, Kiyonobu Ishizuka, Kenichiro Miura, Shigeru Horita, Daisuke Ogino, Gen Tamiya, Hideki Ishida, Tetsuo Mitsui, Kiyoshi Hayasaka, Motoshi Hattori
Publikováno v:
Kidney International Reports, Vol 4, Iss 9, Pp 1312-1322 (2019)
Introduction: Mutations in genes encoding nucleoporins (NUPs; components of nuclear pore complexes [NPCs]), such as NUP93, have been reported to cause steroid-resistant nephrotic syndrome (SRNS) or focal segmental glomerulosclerosis (FSGS), which oft
Externí odkaz:
https://doaj.org/article/41e6a07eedce4ec9a065f923faba22bd
Autor:
Yamato Kikkawa, Taeko Hashimoto, Keiichi Takizawa, Seiya Urae, Haruka Masuda, Masumi Matsunuma, Yuji Yamada, Keisuke Hamada, Motoyoshi Nomizu, Helen Liapis, Masataka Hisano, Yuko Akioka, Kenichiro Miura, Motoshi Hattori, Jeffrey H. Miner, Yutaka Harita
Publikováno v:
JCI Insight, Vol 6, Iss 6 (2021)
Mutations in LAMB2, encoding laminin β2, cause Pierson syndrome and occasionally milder nephropathy without extrarenal abnormalities. The most deleterious missense mutations that have been identified affect primarily the N-terminus of laminin β2. O
Externí odkaz:
https://doaj.org/article/04282997f5944b87a6b1ddb1678242ad
Autor:
Kiyoshi Hayasaka, Hideki Ishida, Keiichi Takizawa, Seiya Urae, Motoshi Hattori, Daisuke Ogino, Tetsuo Mitsui, Yutaka Harita, Shigeru Horita, Taeko Hashimoto, Kiyonobu Ishizuka, Kenichiro Miura, Gen Tamiya
Publikováno v:
Kidney International Reports
Kidney International Reports, Vol 4, Iss 9, Pp 1312-1322 (2019)
Kidney International Reports, Vol 4, Iss 9, Pp 1312-1322 (2019)
Introduction: Mutations in genes encoding nucleoporins (NUPs; components of nuclear pore complexes [NPCs]), such as NUP93, have been reported to cause steroid-resistant nephrotic syndrome (SRNS) or focal segmental glomerulosclerosis (FSGS), which oft
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75a6b3ab09954cdcbff92e946d6d99e9
https://doi.org/10.1016/j.ekir.2019.05.1157
https://doi.org/10.1016/j.ekir.2019.05.1157
Autor:
Tomohiro Udagawa, Koji L. Ode, Yuko Kajiho, Masaomi Nangaku, Seiya Urae, Akira Oka, Masami Nagahama, Akihiko Saito, Shoichiro Kanda, Hiroki R. Ueda, Yutaka Harita
Publikováno v:
Journal of cell science. 133(13)
Cubilin (CUBN) and amnionless (AMN), expressed in kidney and intestine, form a multiligand receptor complex called CUBAM that plays a crucial role in albumin absorption. To date, the mechanism of albumin endocytosis mediated by CUBAM remains to be el
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bedcb7d2a0772d873970e499f15bb14
https://pubmed.ncbi.nlm.nih.gov/32482797
https://pubmed.ncbi.nlm.nih.gov/32482797
Autor:
Seiya Urae, Yutaka Harita, Masayuki Furuyama, Akira Oka, Yoshimitsu Gotoh, Takeshi Yamada, Hideki Takizawa, Keiichi Tamagaki, Tsukasa Takemura, Akira Ashida, Katsusuke Yamamoto, Kenichiro Miura, Sachiko Kitanaka, Atsushi Ozawa, Motoshi Hattori, Tsuyoshi Isojima, Riki Akashio, Yasunori Miyasaka
Publikováno v:
European Journal of Human Genetics
Nail-patella syndrome (NPS) is a multi-system disorder characterized by hypoplastic nails, hypoplastic patella, skeletal deformities, and iliac horns, which is caused by heterozygous variants of LMX1B. Nephropathy ranging from mild urinary abnormalit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7b458f090dac75f3c986d31e438374e
https://pubmed.ncbi.nlm.nih.gov/32457516
https://pubmed.ncbi.nlm.nih.gov/32457516
Autor:
Yutaka Harita, Haruko Tsurumi, Jun Mitsui, Seiya Urae, Shinichi Morishita, Shoichiro Kanda, Tomohiro Udagawa, Hiroki R. Ueda, Shoji Tsuji, Kenichiro Miura, Koji L. Ode, Yuko Kajiho, Akira Oka, Akihiko Saito
Publikováno v:
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Mutations in either cubilin (CUBN) or amnionless (AMN) genes cause Imerslund–Gräsbeck syndrome (IGS), a hereditary disease characterised by anaemia attributed to selective intestinal malabsorption of cobalamin and low-molecular weight proteinuria.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fa282490892a96252b50ca235db6217
http://europepmc.org/articles/PMC5799345
http://europepmc.org/articles/PMC5799345