Author

Pasquale C. Putter

Leiden University Medical CenterORCID 0000-0002-1995-2904Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Joris DeeleniD· 2 shared Nico Lakenberg· 2 shared P. Eline SlagboomiD· 2 shared Thies GehrmanniD· 2 shared Adam AntebiiD· 1 shared Almut Nebel· 1 shared Daniel KolbeiD· 1 shared Di GuaniD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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2 shared papersGenetics

Joris DeelenORCID

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2 papers

Recent·Most cited

Rare longevity-associated variants, including a reduced-function mutation in cGAS, identified in multigenerational long-lived families

Pasquale C. Putter, Di Guan, Thies Gehrmann, Daniel Kolbe, Jiping Yang, HyeRim Han, Seungsoo Kim, Nico Lakenberg, H. Eka D. Suchiman, Stella Trompet, Georg C. Liu, Eugen Ballhysa, Adam Antebi, Niels van den Berg, Almut Nebel, , Joris Deelen

The paper identifies rare longevity-associated variants, including a cGAS mutation, in long-lived families and shows they reduce inflammation and delay cellular senescence.

bioRxiv · Dec 9, 2025 · PreprintGenetics

Functional characterisation of rare variants in genes encoding the MAPK/ERK signalling pathway identified in long-lived Leiden Longevity Study participants

Helena M. Hinterding, Maarouf Baghdadi, Thies Gehrmann, Pasquale C. Putter, Mara Neuerburg, Nico Lakenberg, Erik B. van den Akker, P. Eline Slagboom, Joris Deelen, Linda Partridge

The paper identifies two rare variants in the MAPK/ERK pathway from long-lived families and shows they affect signaling and metabolism differently in mouse embryonic stem cells.

bioRxiv · Jun 1, 2023 · PreprintGenetics