Author

Pascal Houillier

Centre National de la Recherche ScientifiqueORCID 0000-0003-4953-6917Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Physiology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell signaling & trafficking· 1 Research Focus:development & morphogenesis· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alina Braun· 1 shared Amandine AkaiD· 1 shared Amandine ViauiD· 1 shared Anukrati Nigam· 1 shared Bernhard SchermeriD· 1 shared Bodo Bernhard BeckiD· 1 shared Brice Lapin· 1 shared Brigitte LelongtiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetics

Alina Braun

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2 papers

Recent·Most cited

PhysiologyJournal of Clinical InvestigationPeer-reviewedJun 30, 2026

Cilia to basement membrane signalling is a biomechanical driver of autosomal dominant polycystic kidney disease

Manal Mazloum, Brice Lapin, Rushdi Alghamdi…·Frank Bienaimé

This study identifies biomechanical changes in the tubular basement membrane as drivers of cyst formation in ADPKD, linking cilia and polycystin-1 function.

3 citations

mouseexperimental assay

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 11, 2021

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

Karl P. Schlingmann, François Jouret, Kuang Shen…·Jeroen H. F. de Baaij

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky