Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome

Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, +17

Kidney International

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

Tomohiko Yamamura, Tomoko Horinouchi, Tomomi Adachi, +29

Nature Communications

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria

China Nagano, Tomohiko Yamamura, Tomoko Horinouchi, +8

Scientific Reports

Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases

Atsushi Kondo, China Nagano, Shinya Ishiko, +17

Scientific Reports

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, +15

Molecular Genetics & Genomic Medicine

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing

Yuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, +14

Kidney International Reports

Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease

Eri Okada, Naoya Morisada, Tomoko Horinouchi, +23

Kidney International Reports

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

Tomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, +14

Scientific Reports

Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome

Yurika Tsuji, Tomohiko Yamamura, China Nagano, +17

Kidney International Reports

Genotype-Phenotype Correlation in WT1 Exon 8 to 9 Missense Variants

China Nagano, Yutaka Takaoka, Koichi Kamei, +17

Kidney International Reports