Výsledky vyhledávání - "Yuko, Akioka"

Akademický článek

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

Autor: Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100966- (2023)

The identification of the m.12207G > A variant in MT-TS2, (NC_012920.1:m.12207G > A) was first reported in 2006. The affected individual presented with developmental delay, feeding difficulty, proximal muscle weakness, and lesions within her basal ga

Externí odkaz: https://doaj.org/article/20f6712ad8bf48159c020c1d77d87904

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Akademický článek

Cancer After Pediatric Kidney Transplantation: A Long-term Single-center Experience in Japan

Autor: Tomoo Yabuuchi, MD, Kenichiro Miura, MD, PhD, Satoru Shimizu, PhD, Naoto Kaneko, MD, Kiyonobu Ishizuka, MD, Shoichiro Kanda, MD, PhD, Hiroko Chikamoto, MD, PhD, Yuko Akioka, MD, PhD, Mikiya Fujieda, MD, PhD, Motoshi Hattori, MD, PhD

Publikováno v: Transplantation Direct, Vol 7, Iss 4, p e687 (2021)

Background. The cancer incidence, types, and risk factors after pediatric kidney transplantation (KT) have been reported in the United States, Canada, Europe, Australia, and New Zealand. However, no information is available about cancer in pediatric

Externí odkaz: https://doaj.org/article/1a094235e73b4368b00414fa095539c9

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Akademický článek

Laminin β2 variants associated with isolated nephropathy that impact matrix regulation

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

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Akademický článek

Predominant but silent C1q deposits in mesangium on transplanted kidneys - long-term observational study

Autor: Takahiro Kanai, Yuko Akioka, Kenichiro Miura, Masataka Hisano, Junki Koike, Yutaka Yamaguchi, Motoshi Hattori

Publikováno v: BMC Nephrology, Vol 19, Iss 1, Pp 1-5 (2018)

Abstract Background C1q nephropathy (C1qN) was first described as glomerular disease characterized by predominant meangial C1q deposits in patients with proteinuria and no evidence of systemic lupus erythematosus. Several studies, however, revealed t

Externí odkaz: https://doaj.org/article/397ec8e50723425c9efaa6ade968f72f

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Data from Gonadal Tumor in Frasier Syndrome: A Review and Classification

Autor: Noriyuki Shibata, Tomoko Yamamoto, Motoshi Hattori, Yuko Akioka, Shoichiro Kanda, Tatsuo Asano, Kazunori Hashimoto, Jiro Ezaki

Frasier syndrome is a rare inherited disease characterized by steroid-resistant nephrotic syndrome, gonadal tumor, and male pseudohermaphroditism (female external genitalia with sex chromosomes XY), which is based on a splice site mutation of Wilms t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05848dbffee42d7e16c382de6b9503aa
https://doi.org/10.1158/1940-6207.c.6544965.v1

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Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome

Autor: Kenichiro Miura, Naoto Kaneko, Taeko Hashimoto, Kiyonobu Ishizuka, Yoko Shirai, Masataka Hisano, Hiroko Chikamoto, Yuko Akioka, Shoichiro Kanda, Yutaka Harita, Toshiyuki Yamamoto, Motoshi Hattori

Publikováno v: Pediatric Nephrology. 38:417-429

Establishing a molecular genetic diagnosis of focal segmental glomerulosclerosis (FSGS)/steroid-resistant nephrotic syndrome (SRNS) can be useful for predicting post-transplant recurrence. Monogenic causes are reportedly present in approximately 20-3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94ebc6310ed43272464a047bf85d78c0
https://doi.org/10.1007/s00467-022-05604-3

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Renal hypoplasia can be the cause of membranous nephropathy-like lesions

Autor: Keiichi Takizawa, Naoto Kaneko, Tomoo Yabuuchi, Shigeru Horita, Sekiko Taneda, Kenichiro Miura, Yutaka Harita, Shoichiro Kanda, Yuko Akioka, Kazuho Honda, Motoshi Hattori, Kiyonobu Ishizuka

Publikováno v: Clinical and Experimental Nephrology. 24:813-820

Renal hypoplasia (RH) is the most common cause of chronic kidney disease in children. In cases of RH, proteinuria is often induced by glomerular hypertrophy and hyperfiltration that is commonly associated with focal segmental glomerulosclerosis. This

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04f3796af14e6402979a4582a41b962
https://doi.org/10.1007/s10157-020-01902-y

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