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CEN Case Reports|April 8, 2024
Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case reportYu Tanaka, Tomoko Horinouchi, Yuta Inoki, et al.
Biomarker Insights|November 3, 2025
Latent Intrarenal Renin-Angiotensin-Aldosterone System Activation Could Persist Until Early School-Aged in Children with a History of Low Birth WeightShingo Ishimori, Shinya Ishiko, Junya Fujimura, et al.
Brain & Development|May 9, 2025
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicingHaruka Nozaki, Nana Sakakibara, Hiroaki Hanafusa, et al.
Kidney International Reports|February 24, 2025
<i>COL4A5</i> Intronic Variants at Third to Fifth Nucleotides Cause Alport SyndromeHideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, et al.
Clinical and Experimental Nephrology|February 20, 2025
Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohortYu Tanaka, China Nagano, Nana Sakakibara, et al.
CEN Case Reports|June 18, 2026
Membranous nephropathy secondary to very early-onset inflammatory bowel disease in a 3-year-old boy: case reportShuhei Aoyama, Tomohiko Yamamura, Tomoko Horinouchi, et al.
Kidney International Reports|June 9, 2025
Comprehensive Splice Pattern Analysis for Previously Reported <i>OCRL</i> Splicing Variants and Their Phenotypic ContributionsRini Rossanti, Eri Okada, Nana Sakakibara, et al.
CEN Case Reports|May 29, 2026
A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisisPerry Martel Sy, Minato Baba, Kaori Fujiwara, 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.
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.
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