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Kidney International Reports|January 10, 2022
Last Nucleotide Substitutions of <i>COL4A5</i> Exons Cause Aberrant SplicingYuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, et al.
Scientific Reports|September 5, 2019
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assayTomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, et al.
Nephrology (Carlton, Vic.)|September 30, 2025
Association Between Multicystic Dysplastic Kidney and the Local Renin-Angiotensin-Aldosterone System: A Pilot Study of a New BiomarkerShingo Ishimori, Shinya Ishiko, Junya Fujimura, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 12, 2024
Genotype and X-chromosome inactivation are associated with disease severity in females with X-linked Alport syndromeRyota Suzuki, Nana Sakakibara, Sae Murakami, et al.
Clinical and Experimental Nephrology|June 15, 2021
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assayRini Rossanti, Kandai Nozu, Atsushi Fukunaga, et al.
Kidney International Reports|February 2, 2026
Clinical and Genetic Insights Into Isolated Proteinuria With <i>CUBN</i> VariantsNana Sakakibara, Shinya Ishiko, Yu Tanaka, et al.
Clinical and Experimental Nephrology|May 30, 2023
All reported non-canonical splice site variants in GLA cause aberrant splicingEri Okada, Tomoko Horinouchi, Tomohiko Yamamura, et al.
Molecular Genetics & Genomic Medicine|June 17, 2020
Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assayTomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, et al.
Molecular Genetics & Genomic Medicine|August 1, 2019
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndromeTomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, et al.
Clinical and Experimental Nephrology|September 18, 2021
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypesShinya Ishiko, Naoya Morisada, Atsushi Kondo, et al.
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