Author

Yuka Murofushi

Nagoya City University

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1

Frequent Co-Authors

Ajaz Ahmad BhatiD· 1 shared Akihiko SaitoiD· 1 shared Aljazi Al-Maraghi· 1 shared Ammira Al‐Shabeeb AkiliD· 1 shared Aya YoshidaiD· 1 shared Chris M. Danson· 1 shared Ellen van BinsbergeniD· 1 shared Emma L. JonesiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ajaz Ahmad BhatORCID

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1 paper

Recent·Most cited

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

Kohji Kato, Yosuke Nishio, Kirsty J. McMillan, Aljazi Al-Maraghi, Hester Y. Kroes, Mohamed S. Abdel‐Hamid, Emma L. Jones, Shrestha Shaw, Aya Yoshida, Shiomi Otsuji, Yuka Murofushi, Waleed Aamer, Ajaz Ahmad Bhat, Jehan AlRayahi, Ammira Al‐Shabeeb Akil, , Peter J. Cullen

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.

medRxiv · Aug 17, 2024 · PreprintGenetic & Genomic Medicine