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For: Yamamura T, Nozu K, Ueda H, Fujimaru R, Hisatomi R, Yoshida Y, Kato H, Nangaku M, Miyata T, Sawai T, Minamikawa S, Kaito H, Matsuo M, Iijima K. Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes. J Hum Genet 2018;63:755-9. [PMID: 29556035 DOI: 10.1038/s10038-018-0436-9] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
Number Citing Articles
1 Micale L, Morlino S, Schirizzi A, Agolini E, Nardella G, Fusco C, Castellana S, Guarnieri V, Villa R, Bedeschi MF, Grammatico P, Novelli A, Castori M. Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. Genes (Basel) 2020;11:E1513. [PMID: 33348901 DOI: 10.3390/genes11121513] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
2 Takafuji S, Mori T, Nishimura N, Yamamoto N, Uemura S, Nozu K, Terui K, Toki T, Ito E, Muramatsu H, Takahashi Y, Matsuo M, Yamamura T, Iijima K. Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19. Pediatr Hematol Oncol 2021;38:515-27. [PMID: 33622161 DOI: 10.1080/08880018.2021.1887984] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y, Nagase H, Takeda H, Rossanti R, Kaito H, Matsuo M, Iijima K. Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay. Sci Rep 2019;9:12696. [PMID: 31481700 DOI: 10.1038/s41598-019-48990-9] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
4 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. Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1. Clin Exp Nephrol 2020;24:606-12. [PMID: 32201916 DOI: 10.1007/s10157-020-01876-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
5 Yamamura T, Horinouchi T, Aoto Y, Lennon R, Nozu K. The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome. Front Med (Lausanne) 2022;9:841391. [PMID: 35211492 DOI: 10.3389/fmed.2022.841391] [Reference Citation Analysis]
6 Fukushima S, Farea M, Maeta K, Rani AQM, Fujioka K, Nishio H, Matsuo M. Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene. Int J Mol Sci 2020;21:E9136. [PMID: 33266296 DOI: 10.3390/ijms21239136] [Cited by in F6Publishing: 1] [Reference Citation Analysis]