Search Results - "Kirinashizawa, Mika"
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1
Generation and characterization of monoclonal antibodies against mature hepcidin and its application to neutralization and quantitative alteration assay
Published in Bioscience, biotechnology, and biochemistry (18-02-2021)“…Hepcidin regulates the quantity of ferroportin (FPN) on cellular membrane. In our cell assay expressing ferroportin labeled with green fluorescence, FPN was…”
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2
First-in-human autologous implantation of genetically modified adipocytes expressing LCAT for the treatment of familial LCAT deficiency
Published in Heliyon (01-11-2022)“…Familial lecithin: cholesterol acyltransferase (LCAT) deficiency (FLD) is a severe inherited disease without effective treatment. Patients with FLD develop…”
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Mitochondrial reactive oxygen species generation by the SDHC V69E mutation causes low birth weight and neonatal growth retardation
Published in Mitochondrion (01-01-2011)“…We have previously demonstrated that excessive mitochondrial reactive oxygen species caused by mutations in the SDHC subunit of Complex II resulted in…”
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Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype
Published in Journal of clinical lipidology (02-10-2024)“…•LCAT activity measurement is the ideal way to identify conditions caused by LCAT gene variants among low HDL-cholesterolemia.•LCAT activity assay is not…”
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A novel homozygous frameshift mutation in the APOA1 gene associated with marked high-density lipoprotein deficiency
Published in Journal of clinical lipidology (01-07-2022)“…•A patient with low HDL-cholesterol and corneal opacity was identified.•The patient showed no apparent atherosclerosis or CAD.•LCAT activity is relatively…”
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Cell growth of the mouse SDHC mutant cells was suppressed by apoptosis throughout mitochondrial pathway
Published in Bioscience trends (01-02-2008)“…SDHC E69 cells, which overproduce superoxide anions in their mitochondria, were previously established that had a mutation in the SDHC gene of complex II of…”
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