Author

Megumu Ogawa

National Center of Neurology and Psychiatry

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 4 Assay:DNA methylation· 2 Organism:human· 2 Organism:mouse· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Ichizo NishinoiD· 4 shared S. NoguchiiD· 4 shared Shinichiro HayashiiD· 4 shared Nobuyuki EuraiD· 2 shared Takayoshi InoueiD· 2 shared Yasushi OyaiD· 2 shared Yukiko InoueiD· 2 shared Ai Yamanaka· 1 shared

Activity by Year

2022-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 34 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Ichizo NishinoORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathy

Nobuyuki Eura, S. Noguchi, Megumu Ogawa, Kyuto Sonehara, Ai Yamanaka, Shinichiro Hayashi, Yukinori Okada, Kazuma Sugie, Ichizo Nishino

The paper investigates how genetic and epigenetic variations in CGG repeats affect OPDM patient phenotypes, finding complex relationships between repeat size, sequence context, and methylation.

medRxiv · May 13, 2025 · PreprintGenetic & Genomic Medicine

Genetic SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in Purkinje cells

Mariko Okubo, Megumu Ogawa, Nobuyuki Eura, Yukiko Inoue, Ken‐ichi Dewa, Tomohiro Owa, Satoshi Miyashita, Terumi Murakami, Hisayoshi Nakamura, Shinichiro Hayashi, Ikuya Nonaka, Katsuhisa Ogata, Mikio Hoshino, Takayoshi Inoue, Ichizo Nishino, S. Noguchi

The paper identifies SNUPN variants causing spinocerebellar atrophy by disrupting splicing in Purkinje cells through impaired U1 snRNP nuclear transport.

medRxiv · Jul 11, 2024 · PreprintGenetic & Genomic Medicine

Distinct chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4

Michio Inoue, S. Noguchi, Yukiko Inoue, Aritoshi Iida, Megumu Ogawa, Rocío Bengoechea, Sara K. Pittman, Shinichiro Hayashi, Kazuki Watanabe, Yasushi Hosoi, Terunori Sano, Masaki Takao, Yasushi Oya, Yūji Takahashi, Hiroaki Miyajima, , Ichizo Nishino

The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.

Acta Neuropathologica · Dec 13, 2022Peer-reviewedNeuroscience

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori‐Yoshimura, Yasushi Oya, Yuji Takahashi, Dae‐Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, , Ichizo Nishino

This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.

medRxiv · Jun 24, 2022 · PreprintGenetic & Genomic Medicine