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ArticlesPeer ReviewedFull Text
Clinical Utility of Synthesized 18-Lead Electrocardiography
Author / Creator:Yamamoto, Tetsushi ; Awano, Hiroyuki ; Ogawa, Shuichiro ; Matsuo, Masafumi
Publisher:Switzerland: MDPI AG
Journal title:Sensors (Basel, Switzerland), 2024-09, Vol.24 (18), p.5947
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ArticlesPeer ReviewedFull Text
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
Author / Creator:Okubo, Mariko ; Noguchi, Satoru ; Hayashi, Shinichiro ; Nakamura, Harumasa ; Komaki, Hirofumi ; Matsuo, Masafumi ; Nishino, Ichizo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-02, Vol.139 (2), p.247-255
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ArticlesPeer ReviewedFull Text
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
Author / Creator:Takeshima, Yasuhiro ; Yagi, Mariko ; Okizuka, Yo ; Awano, Hiroyuki ; Zhang, Zhujun ; Yamauchi, Yumiko ; Nishio, Hisahide ; Matsuo, Masafumi
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2010-06, Vol.55 (6), p.379-388
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ArticlesPeer ReviewedFull Text
An Antisense Oligonucleotide against a Splicing Enhancer Sequence within Exon 1 of the MSTN Gene Inhibits Pre-mRNA Maturation to Act as a Novel Myostatin Inhibitor
Author / Creator:Maeta, Kazuhiro ; Farea, Manal ; Nishio, Hisahide ; Matsuo, Masafumi
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-04, Vol.23 (9), p.5016
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ArticlesPeer ReviewedFull Text
A novel splice variant of the human MSTN gene encodes a myostatin‐specific myostatin inhibitor
Author / Creator:Maeta, Kazuhiro ; Farea, Manal ; Nishio, Hisahide ; Matsuo, Masafumi
Publisher:Heidelberg: John Wiley & Sons, Inc
Journal title:Journal of cachexia, sarcopenia and muscle, 2023-10, Vol.14 (5), p.2289-2300
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ArticlesPeer ReviewedFull Text
Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy
Author / Creator:Sugihara, Hidetoshi ; Teramoto, Naomi ; Nakamura, Katsuyuki ; Shiga, Takanori ; Shirakawa, Taku ; Matsuo, Masafumi ; Ogasawara, Masashi ; Nishino, Ichizo ; Matsuwaki, Takashi ; Nishihara, Masugi ; Yamanouchi, Keitaro
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-10, Vol.10 (1), p.16385-16385, Article 16385
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ArticlesPeer ReviewedFull Text
Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome
Author / Creator:Hiramuki, Yosuke ; Hosokawa, Miwa ; Osawa, Kayo ; Shirakawa, Taku ; Watanabe, Yasuhiro ; Hanajima, Ritsuko ; Kugoh, Hiroyuki ; Awano, Hiroyuki ; Matsuo, Masafumi ; Kazuki, Yasuhiro
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-01, Vol.15 (1), p.1778-9, Article 1778
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Newsletter articlesFull Text
US Patent Issued to Matsuo Masafumi, Daiichi Sankyo, Orphan Disease Treatment Institute on May 23 for "ENA nucleic acid pharmaceuticals capable of modifying splicing of mRNA precursors" (Japanese Inve...
Publisher:Washington, D.C: HT Digital Streams Limited
Journal title:US Fed News Service, Including US State News, 2017
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ArticlesPeer ReviewedFull Text
Dystrophin Dp71ab is monoclonally expressed in human satellite cells and enhances proliferation of myoblast cells
Author / Creator:Farea, Manal ; Rani, Abdul Qawee Mahyoob ; Maeta, Kazuhiro ; Nishio, Hisahide ; Matsuo, Masafumi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-10, Vol.10 (1), p.17123-17123, Article 17123
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ArticlesPeer ReviewedFull Text
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels
Author / Creator:Misawa, Kazuharu ; Hasegawa, Takanori ; Mishima, Eikan ; Jutabha, Promsuk ; Ouchi, Motoshi ; Kojima, Kaname ; Kawai, Yosuke ; Matsuo, Masafumi ; Anzai, Naohiko ; Nagasaki, Masao
Publisher:United States: Oxford University Press
Journal title:Genetics (Austin), 2020-04, Vol.214 (4), p.1079-1090
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ArticlesPeer ReviewedFull Text
Establishment of a highly sensitive sandwich ELISA for the N-terminal fragment of titin in urine
Author / Creator:Maruyama, Nobuhiro ; Asai, Tsuyoshi ; Abe, Chiaki ; Inada, Akari ; Kawauchi, Takeshi ; Miyashita, Kazuya ; Maeda, Masahiro ; Matsuo, Masafumi ; Nabeshima, Yo-ichi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-12, Vol.6 (1), p.39375-39375, Article 39375
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ArticlesPeer ReviewedFull Text
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Author / Creator:Yamada, Mamiko ; Maeta, Kazuhiro ; Suzuki, Hisato ; Kurosawa, Ryo ; Takenouchi, Toshiki ; Awaya, Tomonari ; Ajiro, Masahiko ; Takeuchi, Atsuko ; Nishio, Hisahide ; Hagiwara, Masatoshi ; Miya, Fuyuki ; Matsuo, Masafumi ; Kosaki, Kenjiro
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-03, Vol.14 (1), p.6506-6506, Article 6506
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Newsletter articlesFull Text
Hagiwara Masatoshi and Matsuo Masafumi File European Patent Application for Prophylactic or Ameliorating Agent for Genetic Diseases
Publisher:New Delhi: Pedia Content Solutions Pvt. Ltd
Journal title:Global IP News. Medical Patent News, 2013
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ArticlesPeer ReviewedFull Text
Interleukin-1beta (IL-1β)-induced Notch ligand Jagged1 suppresses mitogenic action of IL-1β on human dystrophic myogenic cells
Author / Creator:Nagata, Yuki ; Kiyono, Tohru ; Okamura, Kikuo ; Goto, Yu-Ichi ; Matsuo, Masafumi ; Ikemoto-Uezumi, Madoka ; Hashimoto, Naohiro
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-12, Vol.12 (12), p.e0188821
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ArticlesPeer ReviewedFull Text
Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene
Author / Creator:Fukushima, Sachiyo ; Farea, Manal ; Maeta, Kazuhiro ; Rani, Abdul Qawee Mahyoob ; Fujioka, Kazumichi ; Nishio, Hisahide ; Matsuo, Masafumi
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-11, Vol.21 (23), p.9136
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ArticlesPeer ReviewedFull Text
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report
Author / Creator:Nambu, Yoshinori ; Shirakawa, Taku ; Osawa, Kayo ; Nishio, Hisahide ; Nozu, Kandai ; Matsuo, Masafumi ; Awano, Hiroyuki
Publisher:London, England: SAGE Publications
Journal title:SAGE open medical case reports, 2024-01, Vol.12, p.2050313X231221436
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ArticlesPeer ReviewedFull Text
Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1
Author / Creator: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
Publisher:Singapore: Springer Singapore
Journal title:Clinical and experimental nephrology, 2020-07, Vol.24 (7), p.606-612
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ArticlesPeer ReviewedFull Text
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
Author / Creator:Sakakibara, Nana ; Nozu, Kandai ; Yamamura, Tomohiko ; Horinouchi, Tomoko ; Nagano, China ; Ye, Ming Juan ; Ishiko, Shinya ; Aoto, Yuya ; Rossanti, Rini ; Hamada, Riku ; Okamoto, Nobuhiko ; Shima, Yuko ; Nakanishi, Koichi ; Matsuo, Masafumi ; Iijima, Kazumoto ; Morisada, Naoya
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-07, Vol.67 (7), p.427-440
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ArticlesPeer ReviewedFull Text
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients
Author / Creator:Lee, Tomoko ; Takeshima, Yasuhiro ; Kusunoki, Noriko ; Awano, Hiroyuki ; Yagi, Mariko ; Matsuo, Masafumi ; Iijima, Kazumoto
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-01, Vol.59 (1), p.46-50
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ArticlesPeer ReviewedFull Text
Long-term outcome and intervention of urea cycle disorders in Japan
Author / Creator:Kido, Jun ; Nakamura, Kimitoshi ; Mitsubuchi, Hiroshi ; Ohura, Toshihiro ; Takayanagi, Masaki ; Matsuo, Masafumi ; Yoshino, Makoto ; Shigematsu, Yosuke ; Yorifuji, Tohru ; Kasahara, Mureo ; Horikawa, Reiko ; Endo, Fumio
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.777-785
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Clinical Utility of Synthesized 18-Lead Electrocardiography

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Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

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Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

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An Antisense Oligonucleotide against a Splicing Enhancer Sequence within Exon 1 of the MSTN Gene Inhibits Pre-mRNA Maturation to Act as a Novel Myostatin Inhibitor

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A novel splice variant of the human MSTN gene encodes a myostatin‐specific myostatin inhibitor

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Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy

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Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome

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US Patent Issued to Matsuo Masafumi, Daiichi Sankyo, Orphan Disease Treatment Institute on May 23 for "ENA nucleic acid pharmaceuticals capable of modifying splicing of mRNA precursors" (Japanese Inve...

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Dystrophin Dp71ab is monoclonally expressed in human satellite cells and enhances proliferation of myoblast cells

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Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels

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Establishment of a highly sensitive sandwich ELISA for the N-terminal fragment of titin in urine

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Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

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Hagiwara Masatoshi and Matsuo Masafumi File European Patent Application for Prophylactic or Ameliorating Agent for Genetic Diseases

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

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Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene

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Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report

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

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Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population

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Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients

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Long-term outcome and intervention of urea cycle disorders in Japan

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