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

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

Junya Fujimura, Kandai Nozu, Tomohiko Yamamura, +14

Kidney International Reports

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

Xiaoyuan Jia, Tomohiko Yamamura, Rasheed Gbadegesin, +20

Kidney International

Clinical characteristics of HNF1B-related disorders in a Japanese population

China Nagano, Naoya Morisada, Kandai Nozu, +26

Clinical and Experimental Nephrology

Hnf1b-related DisordersGenetic DisorderGenetic EpidemiologyPathologyPublic Health +3

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

Clinical and genetic variability of PAX2-related disorder in the Japanese population

Rini Rossanti, Naoya Morisada, Kandai Nozu, +12

Journal of Human Genetics

Pax2-related DisorderGenetic DisorderGeneticsGenetic EpidemiologyClinical Genetics +7

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing

Yuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, +14

Kidney International Reports