Author

C. L. Shovlin

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Cell Biology· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:clustering· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1

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A. Bielowka· 1 shared D. Patel· 1 shared M. A. Aldred· 1 shared M. E. Bernabeu-Herrero· 1 shared M. Noseda· 1 shared P. Chaves Guerrero· 1 shared S. J. Marciniak· 1 shared

Activity by Year

2021-2021 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperCell Biology

A. Bielowka

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1 paper

Recent·Most cited

Heterozygous transcriptional signatures unmask variable premature termination codon (PTC) burden alongside pathway-specific adaptations in blood outgrowth endothelial cells from patients with nonsense DNA variants causing hereditary hemorrhagic telangiectasia

M. E. Bernabeu-Herrero, D. Patel, A. Bielowka, P. Chaves Guerrero, S. J. Marciniak, M. Noseda, M. A. Aldred, C. L. Shovlin

The paper examines the effects of nonsense DNA variants in HHT patients by analyzing transcriptional signatures and PTC burden in BOECs, finding pathway-independent changes in protein modification and stress-related patterns.

bioRxiv · Dec 5, 2021 · PreprintCell Biology