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Page 1
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K. Okada E, et al. Among authors: ishiko s. Clin Exp Nephrol. 2023 Sep;27(9):737-746. doi: 10.1007/s10157-023-02361-x. Epub 2023 May 31. Clin Exp Nephrol. 2023. PMID: 37254000 Free PMC article.
[CASE REPORT OF DECOMPRESSION OF THE OPTIC CANAL].
YAMAUCHI Y, KINOSHITA T, ISHIKO S, NISHIJIMA Y, NISHIMURA M. YAMAUCHI Y, et al. Among authors: ishiko s. Iryo. 1964 Sep;18:635-7. Iryo. 1964. PMID: 14262243 Japanese. No abstract available.
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.
Yamamura T, Nozu K, Minamikawa S, Horinouchi T, Sakakibara N, Nagano C, Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Rossanti R, Ye MJ, Nozu Y, Ishimori S, Morisada N, Kaito H, Iijima K. Yamamura T, et al. Among authors: ishiko s. Mol Genet Genomic Med. 2019 Sep;7(9):e883. doi: 10.1002/mgg3.883. Epub 2019 Jul 30. Mol Genet Genomic Med. 2019. PMID: 31364286 Free PMC article. Clinical Trial.
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1.
Inoue T, Nagano C, Matsuo M, Yamamura T, Sakakibara N, Horinouchi T, Shibagaki Y, Ichikawa D, Aoto Y, Ishiko S, Ishimori S, Rossanti R, Iijima K, Nozu K. Inoue T, et al. Among authors: ishiko s. Clin Exp Nephrol. 2020 Jul;24(7):606-612. doi: 10.1007/s10157-020-01876-x. Epub 2020 Mar 22. Clin Exp Nephrol. 2020. PMID: 32201916 Free PMC article.
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
Yamamura T, Horinouchi T, Adachi T, Terakawa M, Takaoka Y, Omachi K, Takasato M, Takaishi K, Shoji T, Onishi Y, Kanazawa Y, Koizumi M, Tomono Y, Sugano A, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, Rossanti R, Ye MJ, Nozu Y, Matsuo M, Kai H, Iijima K, Nozu K. Yamamura T, et al. Among authors: ishiko s. Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. Nat Commun. 2020. PMID: 32488001 Free PMC article.
Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay.
Horinouchi T, Yamamura T, Minamikawa S, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y, Nagase H, Takeda H, Rossanti R, Ishimori S, Kaito H, Matsuo M, Iijima K, Nozu K. Horinouchi T, et al. Among authors: ishiko s. Mol Genet Genomic Med. 2020 Aug;8(8):e1342. doi: 10.1002/mgg3.1342. Epub 2020 Jun 16. Mol Genet Genomic Med. 2020. PMID: 32543079 Free PMC article.
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
Jia X, Yamamura T, Gbadegesin R, McNulty MT, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K, Kaku Y, Fujimaru R, Tanaka R, Shima Y; Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan; Baek J, Kang HG, Ha IS, Han KH, Yang EM; Korean Consortium of Hereditary Renal Diseases in Children; Abeyagunawardena A, Lane B, Chryst-Stangl M, Esezobor C, Solarin A; Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group); Dossier C, Deschênes G; NEPHROVIR; Vivarelli M, Debiec H, Ishikura K, Matsuo M, Nozu K, Ronco P, Cheong HI, Sampson MG, Tokunaga K, Iijima K. Jia X, et al. Kidney Int. 2020 Nov;98(5):1308-1322. doi: 10.1016/j.kint.2020.05.029. Epub 2020 Jun 14. Kidney Int. 2020. PMID: 32554042 Free PMC article.
145 results