Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD) deficiency of a Javanese Chinese family in Indonesia

by IDG Ugrasena, Taku Shirakawa, Kaoru Nishiyama, Masafumi Matsuo
Published 2017-02-01

Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence

by Mizuki Tagami, Shigeru Honda, Ichiro Morioka, Masafumi Matsuo, Akira Negi
Published 2010-11-01

Urinary Titin N-Fragment as a Biomarker of Muscle Atrophy, Intensive Care Unit-Acquired Weakness, and Possible Application for Post-Intensive Care Syndrome

by Nobuto Nakanishi, Rie Tsutsumi, Kanako Hara, Masafumi Matsuo, Hiroshi Sakaue, Jun Oto
Published 2021-02-01

Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene

by Masafumi Matsuo, Hiroyuki Awano, Masaaki Matsumoto, Masashi Nagai, Tatsuya Kawaguchi, Zhujun Zhang, Hisahide Nishio
Published 2017-10-01

Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of The <i>CD44</i> Gene

by Sachiyo Fukushima, Manal Farea, Kazuhiro Maeta, Abdul Qawee Mahyoob Rani, Kazumichi Fujioka, Hisahide Nishio, Masafumi Matsuo
Published 2020-11-01

Intronic Alternative Polyadenylation in the Middle of the <i>DMD</i> Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients

by Abdul Qawee Mahyoob Rani, Tetsushi Yamamoto, Tatsuya Kawaguchi, Kazuhiro Maeta, Hiroyuki Awano, Hisahide Nishio, Masafumi Matsuo
Published 2020-05-01

Schwann cell-specific Dp116 is expressed in glioblastoma cells, revealing two novel DMD gene splicing patterns

by Abdul Qawee Mahyoob Rani, Kazuhiro Maeta, Tatsuya Kawaguchi, Hiroyuki Awano, Masashi Nagai, Hisahide Nishio, Masafumi Matsuo
Published 2019-12-01

Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells.

by Yuki Nagata, Tohru Kiyono, Kikuo Okamura, Yu-Ichi Goto, Masafumi Matsuo, Madoka Ikemoto-Uezumi, Naohiro Hashimoto
Published 2017-01-01

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

by Emma Tabe Eko Niba, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Masakazu Shinohara, Hisahide Nishio, Masafumi Matsuo
Published 2021-09-01

Identification of point mutations in Glucose-6-Phosphate Dehydrogenase gene in Timor Island people : A preliminary report

by Widanto Hardjowasito, Bambang Pardjianto, Loeki E. Fitri, Mardhani Ys, Loekito R. M., Taku Shirakawa, Kaoru Nishiyama, Masafumi Matsuo
Published 2001-11-01

2′-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping

by Tomoko Lee, Hiroyuki Awano, Mariko Yagi, Masaaki Matsumoto, Nobuaki Watanabe, Ryoya Goda, Makoto Koizumi, Yasuhiro Takeshima, Masafumi Matsuo
Published 2017-02-01

DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification

by Emma Tabe Eko Niba, Ryo Yamanaka, Abdul Qawee Mahyoob Rani, Hiroyuki Awano, Masaaki Matsumoto, Hisahide Nishio, Masafumi Matsuo
Published 2017-05-01

Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy

by Naomi Teramoto, Hidetoshi Sugihara, Keitaro Yamanouchi, Katsuyuki Nakamura, Koichi Kimura, Tomoko Okano, Takanori Shiga, Taku Shirakawa, Masafumi Matsuo, Tetsuya Nagata, Masao Daimon, Takashi Matsuwaki, Masugi Nishihara
Published 2020-09-01

Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System

by Tatsuya Kawaguchi, Emma Tabe Eko Niba, Abdul Qawee Mahyoob Rani, Yoshiyuki Onishi, Makoto Koizumi, Hiroyuki Awano, Masaaki Matsumoto, Masashi Nagai, Shinobu Yoshida, Sachiko Sakakibara, Naoyuki Maeda, Osamu Sato, Hisahide Nishio, Masafumi Matsuo
Published 2018-05-01

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

by Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima
Published 2017-12-01

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

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