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A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants.
Malakasioti G, Iancu D, Milovanova A, Tsygin A, Horinouchi T, Nagano C, Nozu K, Kamei K, Fujinaga S, Iijima K, Sinha R, Basu B, Morello W, Montini G, Waters A, Boyer O, Yıldırım ZY, Yel S, Dursun İ, McCarthy HJ, Vivarelli M, Prikhodina L, Besouw MTP, Chan EY, Huang W, Kemper MJ, Loos S, Prestidge C, Wong W, Zlatanova G, Ehren R, Weber LT, Chehade H, Hooman N, Tkaczyk M, Stańczyk M, Miligkos M, Tullus K; CNI in Monogenic SRNS Study Investigators. Malakasioti G, et al. Among authors: horinouchi t. Kidney Int. 2023 May;103(5):962-972. doi: 10.1016/j.kint.2023.02.022. Epub 2023 Mar 8. Kidney Int. 2023. PMID: 36898413
Cryptic exon activation in SLC12A3 in Gitelman syndrome.
Nozu K, Nozu Y, Nakanishi K, Konomoto T, Horinouchi T, Shono A, Morisada N, Minamikawa S, Yamamura T, Fujimura J, Nakanishi K, Ninchoji T, Kaito H, Morioka I, Taniguchi-Ikeda M, Vorechovsky I, Iijima K. Nozu K, et al. Among authors: horinouchi t. J Hum Genet. 2017 Feb;62(2):335-337. doi: 10.1038/jhg.2016.129. Epub 2016 Oct 27. J Hum Genet. 2017. PMID: 27784896
Diagnostic strategy for inherited hypomagnesemia.
Horinouchi T, Nozu K, Kamiyoshi N, Kamei K, Togawa H, Shima Y, Urahama Y, Yamamura T, Minamikawa S, Nakanishi K, Fujimura J, Morioka I, Ninchoji T, Kaito H, Nakanishi K, Iijima K. Horinouchi T, et al. Clin Exp Nephrol. 2017 Dec;21(6):1003-1010. doi: 10.1007/s10157-017-1396-7. Epub 2017 Mar 1. Clin Exp Nephrol. 2017. PMID: 28251383
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Nakanishi K, Nozu K, Hiramoto R, Minamikawa S, Yamamura T, Fujimura J, Horinouchi T, Ninchoji T, Kaito H, Morisada N, Ishimori S, Nakanishi K, Morioka I, Awano H, Matsuo M, Iijima K. Nakanishi K, et al. Among authors: horinouchi t. Eur J Med Genet. 2017 Dec;60(12):631-634. doi: 10.1016/j.ejmg.2017.08.001. Epub 2017 Aug 9. Eur J Med Genet. 2017. PMID: 28803024
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K. Nagano C, et al. Among authors: horinouchi t. Clin Exp Nephrol. 2018 Aug;22(4):881-888. doi: 10.1007/s10157-018-1534-x. Epub 2018 Jan 25. Clin Exp Nephrol. 2018. PMID: 29372472
Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.
Minamikawa S, Nozu K, Nozu Y, Yamamura T, Taniguchi-Ikeda M, Nakanishi K, Fujimura J, Horinouchi T, Shima Y, Nakanishi K, Hattori M, Kanda K, Tanaka R, Morisada N, Nagano C, Sakakibara N, Nagase H, Morioka I, Kaito H, Iijima K. Minamikawa S, et al. Among authors: horinouchi t. J Hum Genet. 2018 May;63(5):589-595. doi: 10.1038/s10038-018-0415-1. Epub 2018 Feb 19. J Hum Genet. 2018. PMID: 29459630
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Omori T, Nakanishi K, Fujimura J, Ashida A, Kitamura M, Kawano M, Shimabukuro W, Kitabayashi C, Imafuku A, Tamagaki K, Kamei K, Okamoto K, Fujinaga S, Oka M, Igarashi T, Miyazono A, Sawanobori E, Fujimaru R, Nakanishi K, Shima Y, Matsuo M, Ye MJ, Nozu Y, Morisada N, Kaito H, Iijima K. Horinouchi T, et al. J Am Soc Nephrol. 2018 Aug;29(8):2244-2254. doi: 10.1681/ASN.2018030228. Epub 2018 Jun 29. J Am Soc Nephrol. 2018. PMID: 29959198 Free PMC article.
Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.
Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan. Jia X, et al. Among authors: horinouchi t. J Am Soc Nephrol. 2018 Aug;29(8):2189-2199. doi: 10.1681/ASN.2017080859. Epub 2018 Jul 16. J Am Soc Nephrol. 2018. PMID: 30012571 Free PMC article.
324 results