Author

Yasushi Oya

National Center Hospital of Neurology and PsychiatryORCID 0000-0001-9937-8350Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Ichizo NishinoiD· 2 shared Megumu Ogawa· 2 shared S. NoguchiiD· 2 shared Shinichiro HayashiiD· 2 shared Aritoshi IidaiD· 1 shared Chiaki MoriiD· 1 shared Conrad Chris WeihliD· 1 shared Dae‐Seong KimiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersNeuroscience

Ichizo NishinoORCID

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2 papers

Recent·Most cited

NeuroscienceActa NeuropathologicaPeer-reviewedDec 13, 2022

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

Michio Inoue, S. Noguchi, Yukiko Inoue…·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.

18 citations

mouseexperimental assay

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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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