Osaka H - Search Results

1

Strategic validation of variants of uncertain significance in ECHS1 genetic testing.

Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: osaka h. J Med Genet. 2023 Oct;60(10):1006-1015. doi: 10.1136/jmg-2022-109027. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055166

2

Total and reduced/oxidized forms of coenzyme Q₁₀ in fibroblasts of patients with mitochondrial disease.

Watanabe C, Osaka H, Watanabe M, Miyauchi A, Jimbo EF, Tokuyama T, Uosaki H, Kishita Y, Okazaki Y, Onuki T, Ebihara T, Aizawa K, Murayama K, Ohtake A, Yamagata T. Watanabe C, et al. Among authors: osaka h. Mol Genet Metab Rep. 2023 Jan 3;34:100951. doi: 10.1016/j.ymgmr.2022.100951. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36632326 Free PMC article.

3

Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors.

Miyauchi A, Watanabe C, Yamada N, Jimbo EF, Kobayashi M, Ohishi N, Nagayoshi A, Aoki S, Kishita Y, Ohtake A, Ohno N, Takahashi M, Yamagata T, Osaka H. Miyauchi A, et al. Among authors: osaka h. Sci Rep. 2024 Feb 27;14(1):4820. doi: 10.1038/s41598-024-55293-1. Sci Rep. 2024. PMID: 38413694 Free PMC article.

4

A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.

Kuroda Y, Matsufuji M, Enomoto Y, Osaka H, Takanashi JI, Yamamoto T, Numata-Uematsu Y, Tabata K, Kurosawa K, Inoue K. Kuroda Y, et al. Among authors: osaka h. Am J Med Genet A. 2023 Aug;191(8):2245-2248. doi: 10.1002/ajmg.a.63229. Epub 2023 May 3. Am J Med Genet A. 2023. PMID: 37134193 No abstract available.

5

Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome.

Nakamura S, Ito Y, Hayakawa H, Aoki S, Yamagata T, Osaka H. Nakamura S, et al. Among authors: osaka h. Mol Genet Metab Rep. 2023 Jan 2;34:100954. doi: 10.1016/j.ymgmr.2022.100954. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36618999 Free PMC article.

6

WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction.

Tsukida K, Muramatsu SI, Osaka H, Yamagata T, Muramatsu K. Tsukida K, et al. Among authors: osaka h. Brain Commun. 2022 Nov 23;4(6):fcac304. doi: 10.1093/braincomms/fcac304. eCollection 2022. Brain Commun. 2022. PMID: 36751498 Free PMC article.

7

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands.

Diodato D, Schiff M, Cohen BH, Bertini E, Rahman S; Workshop participants. Diodato D, et al. Neuromuscul Disord. 2023 Aug;33(8):700-709. doi: 10.1016/j.nmd.2023.06.002. Epub 2023 Jun 15. Neuromuscul Disord. 2023. PMID: 37541860 No abstract available.

8

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

Matsumoto A, Kano S, Kobayashi N, Matsuki M, Furukawa R, Yamagishi H, Yoshinari H, Nakata W, Wakabayashi H, Tsuda H, Watanabe K, Takahashi H, Yamagata T, Matsumura T, Osaka H, Mori H, Iwamoto S. Matsumoto A, et al. Among authors: osaka h. Sci Rep. 2024 Jan 3;14(1):440. doi: 10.1038/s41598-023-50668-2. Sci Rep. 2024. PMID: 38172222 Free PMC article.

9

A Simple, Fast, Sensitive LC-MS/MS Method to Quantify NAD(H) in Biological Samples: Plasma NAD(H) Measurement to Monitor Brain Pathophysiology.

Ishima T, Kimura N, Kobayashi M, Nagai R, Osaka H, Aizawa K. Ishima T, et al. Among authors: osaka h. Int J Mol Sci. 2024 Feb 15;25(4):2325. doi: 10.3390/ijms25042325. Int J Mol Sci. 2024. PMID: 38397001 Free PMC article.

10

Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.

Koshu K, Muramatsu K, Maru T, Kurokawa Y, Mizobe Y, Yamagishi H, Matsubara D, Yokoyama K, Jimbo E, Kumagai H, Sanada Y, Sakuma Y, Fukushima N, Narita A, Yamagata T, Osaka H. Koshu K, et al. Among authors: osaka h. Brain Dev. 2023 Oct;45(9):517-522. doi: 10.1016/j.braindev.2023.06.006. Epub 2023 Jul 8. Brain Dev. 2023. PMID: 37429811

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