Steroid resistant nephrotic syndrome with collapsing focal segmental glomerulosclerosis in a 12-year-old Japanese female after SARS-CoV-2 vaccination

por Horinouchi, Tomoko, Ueda, Chika, Kitakado, Hideaki, Yoshikawa, Norishige, Nozu, Kandai
Publicado 2023

Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease

por Suzuki, Ryota, Sakakibara, Nana, Ichikawa, Yuta, Kitakado, Hideaki, Ueda, Chika, Tanaka, Yu, Okada, Eri, Kondo, Atsushi, Ishiko, Shinya, Ishimori, Shingo, Nagano, China, Yamamura, Tomohiko, Horinouchi, Tomoko, Okamoto, Takayuki, Nozu, Kandai
Publicado 2023

Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene

por Okada, Eri, Aoto, Yuya, Horinouchi, Tomoko, Yamamura, Tomohiko, Ichikawa, Yuta, Tanaka, Yu, Ueda, Chika, Kitakado, Hideaki, Kondo, Atsushi, Sakakibara, Nana, Suzuki, Ryota, Usui, Joichi, Yamagata, Kunihiro, Iijima, Kazumoto, Nozu, Kandai
Publicado 2022

All reported non-canonical splice site variants in GLA cause aberrant splicing

por Okada, Eri, Horinouchi, Tomoko, Yamamura, Tomohiko, Aoto, Yuya, Suzuki, Ryota, Ichikawa, Yuta, Tanaka, Yu, Masuda, Chika, Kitakado, Hideaki, Kondo, Atsushi, Sakakibara, Nana, Ishiko, Shinya, Nagano, China, Ishimori, Shingo, Usui, Joichi, Yamagata, Kunihiro, Matsuo, Masafumi, Nozu, Kandai
Publicado 2023