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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: rossanti r. Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. Nat Commun. 2020. PMID: 32488001 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. Among authors: rossanti r. 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
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: rossanti r. 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: rossanti r. 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.
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: rossanti r. 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.
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.
Yamamura T, Horinouchi T, Nagano C, Omori T, Sakakibara N, Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Takeda H, Rossanti R, Ye MJ, Nozu Y, Ishimori S, Ninchoji T, Kaito H, Morisada N, Iijima K, Nozu K. Yamamura T, et al. Among authors: rossanti r. Kidney Int. 2020 Dec;98(6):1605-1614. doi: 10.1016/j.kint.2020.06.038. Epub 2020 Jul 24. Kidney Int. 2020. PMID: 32712167 Free article.
28 results