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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: nakanishi k. 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
Female X-linked Alport syndrome with somatic mosaicism.
Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K. Yokota K, et al. Among authors: nakanishi k. Clin Exp Nephrol. 2017 Oct;21(5):877-883. doi: 10.1007/s10157-016-1352-y. Epub 2016 Oct 31. Clin Exp Nephrol. 2017. PMID: 27796712
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
Yamamura T, Nozu K, Miyoshi Y, Nakanishi K, Fujimura J, Horinouchi T, Minamikawa S, Mori N, Fujimaru R, Nakanishi K, Ninchoji T, Kaito H, Mariko TI, Morioka I, Matsuo M, Iijima K. Yamamura T, et al. Among authors: nakanishi k. BMC Nephrol. 2017 Dec 4;18(1):353. doi: 10.1186/s12882-017-0774-4. BMC Nephrol. 2017. PMID: 29202719 Free PMC article.
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: nakanishi k. 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. Among authors: nakanishi k. 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.
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
Nakanishi K, Okamoto T, Nozu K, Hara S, Sato Y, Hayashi A, Takahashi T, Nagano C, Sakakibara N, Horinouchi T, Fujimura J, Minamikawa S, Yamamura T, Rossanti R, Nagase H, Kaito H, Ariga T, Iijima K. Nakanishi K, et al. Clin Exp Nephrol. 2019 May;23(5):669-675. doi: 10.1007/s10157-018-1682-z. Epub 2018 Dec 24. Clin Exp Nephrol. 2019. PMID: 30584653
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.
Rossanti R, Shono A, Miura K, Hattori M, Yamamura T, Nakanishi K, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Sakakibara N, Kaito H, Nagase H, Morisada N, Asanuma K, Matsuo M, Nozu K, Iijima K. Rossanti R, et al. Among authors: nakanishi k. J Hum Genet. 2019 Jul;64(7):673-679. doi: 10.1038/s10038-019-0606-4. Epub 2019 Apr 23. J Hum Genet. 2019. PMID: 31015583
2,947 results