The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome

por Yamamura, Tomohiko, Horinouchi, Tomoko, Aoto, Yuya, Lennon, Rachel, Nozu, Kandai
Publicado 2022

Management of children with obesity at local hospital and impact of COVID-19 pandemic

por Ninchoji, Takeshi, Aoto, Yuya, Momo, Natsuki, Maruyama, Jun, Ioi, Hiroaki, Uchida, Hayato
Publicado 2023

Comprehensive genetic diagnosis of Japanese patients with severe proteinuria

por Nagano, China, Yamamura, Tomohiko, Horinouchi, Tomoko, Aoto, Yuya, Ishiko, Shinya, Sakakibara, Nana, Shima, Yuko, Nakanishi, Koichi, Nagase, Hiroaki, Iijima, Kazumoto, Nozu, Kandai
Publicado 2020

Catheter‐related blood stream infection caused by Mycobacterium chelonae in a child with myeloid leukemia associated with Down syndrome

por Fujikawa, Tomoko, Uemura, Suguru, Aoto, Yuya, Nambu, Yoshinori, Nagano, China, Nakatani, Naoko, Nino, Nanako, Yamamoto, Nobuyuki, Mori, Takeshi, Nishimura, Noriyuki, Iijima, Kazumoto
Publicado 2020

Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1

por Inoue, Tomohiko, Nagano, China, Matsuo, Masafumi, Yamamura, Tomohiko, Sakakibara, Nana, Horinouchi, Tomoko, Shibagaki, Yugo, Ichikawa, Daisuke, Aoto, Yuya, Ishiko, Shinya, Ishimori, Shingo, Rossanti, Rini, Iijima, Kazumoto, Nozu, Kandai
Publicado 2020

Correction to: Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1

por Inoue, Tomohiko, Nagano, China, Matsuo, Masafumi, Yamamura, Tomohiko, Sakakibara, Nana, Horinouchi, Tomoko, Shibagaki, Yugo, Ichikawa, Daisuke, Aoto, Yuya, Ishiko, Shinya, Ishimori, Shingo, Rossanti, Rini, Iijima, Kazumoto, Nozu, Kandai
Publicado 2021

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

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

por Horinouchi, Tomoko, Nozu, Kandai, Yamamura, Tomohiko, Minamikawa, Shogo, Nagano, China, Sakakibara, Nana, Nakanishi, Koichi, Shima, Yuko, Morisada, Naoya, Ishiko, Shinya, Aoto, Yuya, Nagase, Hiroaki, Takeda, Hiroki, Rossanti, Rini, Kaito, Hiroshi, Matsuo, Masafumi, Iijima, Kazumoto
Publicado 2019

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing

por Aoto, Yuya, Horinouchi, Tomoko, Yamamura, Tomohiko, Kondo, Atsushi, Nagai, Sadayuki, Ishiko, Shinya, Okada, Eri, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Awano, Hiroyuki, Nagase, Hiroaki, Shima, Yuko, Nakanishi, Koichi, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai
Publicado 2021

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

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

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

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

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

Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes

por Ishiko, Shinya, Morisada, Naoya, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Okada, Eri, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ninchoji, Takeshi, Kaito, Hiroshi, Hamada, Riku, Shima, Yuko, Nakanishi, Koichi, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai
Publicado 2021

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

por Nagano, China, Takaoka, Yutaka, Kamei, Koichi, Hamada, Riku, Ichikawa, Daisuke, Tanaka, Kazuki, Aoto, Yuya, Ishiko, Shinya, Rossanti, Rini, Sakakibara, Nana, Okada, Eri, Horinouchi, Tomoko, Yamamura, Tomohiko, Tsuji, Yurika, Noguchi, Yuko, Ishimori, Shingo, Nagase, Hiroaki, Ninchoji, Takeshi, Iijima, Kazumoto, Nozu, Kandai
Publicado 2021

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

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

Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome

por Tsuji, Yurika, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Sakakibara, Nana, Ishiko, Shinya, Aoto, Yuya, Rossanti, Rini, Okada, Eri, Tanaka, Eriko, Tsugawa, Koji, Okamoto, Takayuki, Sawai, Toshihiro, Araki, Yoshinori, Shima, Yuko, Nakanishi, Koichi, Nagase, Hiroaki, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai
Publicado 2021

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

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

Corrigendum to “Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease”Kidney International Reports, V...

por Okada, Eri, Morisada, Naoya, Horinouchi, Tomoko, Fujii, Hideki, Tsuji, Takayuki, Miura, Masayoshi, Katori, Hideyuki, Kitagawa, Masashi, Morozumi, Kunio, Toriyama, Takanobu, Nakamura, Yuki, Nishikomori, Ryuta, Nagai, Sadayuki, Kondo, Atsushi, Aoto, Yuya, Ishiko, Shinya, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Yamamura, Tomohiko, Ishimori, Shingo, Usui, Joichi, Yamagata, Kunihiro, Iijima, Kazumoto, Imasawa, Toshiyuki, Nozu, Kandai
Publicado 2023

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

por Okada, Eri, Morisada, Naoya, Horinouchi, Tomoko, Fujii, Hideki, Tsuji, Takayuki, Miura, Masayoshi, Katori, Hideyuki, Kitagawa, Masashi, Morozumi, Kunio, Toriyama, Takanobu, Nakamura, Yuki, Nishikomori, Ryuta, Nagai, Sadayuki, Kondo, Atsushi, Aoto, Yuya, Ishiko, Shinya, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Yamamura, Tomohiko, Ishimori, Shingo, Usui, Joichi, Yamagata, Kunihiro, Iijima, Kazumoto, Imasawa, Toshiyuki, Nozu, Kandai
Publicado 2022

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

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