Author

Tsuyoshi Matsumura

Toneyama National HospitalORCID 0000-0001-6241-3626Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Harutoshi Fujimura· 2 shared Kenji Jinnai· 2 shared Masamitsu Nishi· 2 shared Masataka IgetaiD· 2 shared Takashi KimuraiD· 2 shared Chiaki MoriiD· 1 shared Dae‐Seong KimiD· 1 shared Hiroo Yoshikawa· 1 shared

Activity by Year

2020-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

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2 shared papersMolecular Biology

Harutoshi Fujimura

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Molecular BiologybioRxivPreprintDec 23, 2022

Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA-sequence

Kazuki Yoshizumi, Masamitsu Nishi, Masataka Igeta…·Takashi Kimura

This study investigates splicing abnormalities in white matter of DM1 brains using RNA-seq, finding that WM defects may result from both GM and WM RNA splicing issues.

DOI 10.1101/2022.12.23.521721

humanbulk RNA-seq

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Genetic & Genomic MedicinemedRxivPreprintJun 24, 2022

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito…·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.

DOI 10.1101/2022.06.24.22276750

humanDNA methylation

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Molecular BiologyPLoS ONEPeer-reviewedMay 14, 2020

Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1

Masamitsu Nishi, Takashi Kimura, Masataka Igeta…·Hiroo Yoshikawa

The paper examines splicing defects in grey and white matter of DM1 patients, finding greater PSI changes in grey matter compared to white matter.

13 citations

humanbulk RNA-seq

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