Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome

by Kandai Nozu, Yutaka Takaoka, Hirofumi Kai, Minoru Takasato, Kensuke Yabuuchi, Tomohiko Yamamura, Tomoko Horinouchi, Nana Sakakibara, Takeshi Ninchoji, China Nagano, Kazumoto Iijima
Published 2020-12-01

An infant with refractory cytomegalovirus‐induced thrombocytopenia

by Suguru Uemura, Takeshi Mori, Nanako Nino, Nana Sakakibara, Satoru Takafuji, Shota Myojin, Yuichi Takami, Ichiro Morioka, Noriyuki Nishimura, Masaaki Kugo, Kazumoto Iijima
Published 2020-01-01

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

by Junya Fujimura, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Keita Nakanishi, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Kenichi Miyako, Yoshimi Nozu, Naoya Morisada, Hiroaki Nagase, Takeshi Ninchoji, Hiroshi Kaito, Kazumoto Iijima
Published 2019-01-01

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

by Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
Published 2020-08-01

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

by Tomohiko Yamamura, Kandai Nozu, Shogo Minamikawa, Tomoko Horinouchi, Nana Sakakibara, China Nagano, Yuya Aoto, Shinya Ishiko, Koichi Nakanishi, Yuko Shima, Hiroaki Nagase, Rini Rossanti, Ming J. Ye, Yoshimi Nozu, Shingo Ishimori, Naoya Morisada, Hiroshi Kaito, Kazumoto Iijima
Published 2019-09-01

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

by Atsushi Kondo, China Nagano, Shinya Ishiko, Takashi Omori, Yuya Aoto, Rini Rossanti, Nana Sakakibara, Tomoko Horinouchi, Tomohiko Yamamura, Sadayuki Nagai, Eri Okada, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Hiroki Takeda, Hiroaki Nagase, Naoya Morisada, Kazumoto Iijima, Kandai Nozu
Published 2021-08-01

Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases

by Shinya Ishiko, Tomoko Horinouchi, Rika Fujimaru, Yuko Shima, Hiroshi Kaito, Ryojiro Tanaka, Shingo Ishimori, Atsushi Kondo, Sadayuki Nagai, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Momoka Yoshimura, Koichi Nakanishi, Junya Fujimura, Naohiro Kamiyoshi, Hiroaki Nagase, Norishige Yoshikawa, Kazumoto Iijima, Kandai Nozu
Published 2020-08-01

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

by Tomohiko Yamamura, Tomoko Horinouchi, Tomomi Adachi, Maki Terakawa, Yutaka Takaoka, Kohei Omachi, Minoru Takasato, Kiyosumi Takaishi, Takao Shoji, Yoshiyuki Onishi, Yoshito Kanazawa, Makoto Koizumi, Yasuko Tomono, Aki Sugano, Akemi Shono, Shogo Minamikawa, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Misato Kamura, Yutaka Harita, Kenichiro Miura, Shoichiro Kanda, Naoya Morisada, Rini Rossanti, Ming Juan Ye, Yoshimi Nozu, Masafumi Matsuo, Hirofumi Kai, Kazumoto Iijima, Kandai Nozu
Published 2020-06-01