Author

Rosa Vargas‐Poussou

Assistance Publique – Hôpitaux de ParisORCID 0000-0002-4169-0680Unclaimed 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:differential expression· 2 Approach:biophysical modeling· 1 Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:imaging· 1 Assay:metabolomics· 1

Frequent Co-Authors

Alina Braun· 1 shared Anukrati Nigam· 1 shared Bernhard SchermeriD· 1 shared Bodo Bernhard BeckiD· 1 shared Caro BosiD· 1 shared Carsten BergmanniD· 1 shared Claudia Dafinger· 1 shared David M. SabatiniiD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Alina Braun

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

SLC4A1 MUTATIONS THAT CAUSE DISTAL RENAL TUBULAR ACIDOSIS ALTER CYTOPLASMIC PH AND CELLULAR AUTOPHAGY

Grace Essuman, Midhat Rizvi, Ensaf Y. Almomani, Sayyed Hanif Ullah, Sarder MA Hasib, Forough Chelangarimiyandoab, Priyanka Mungara, Manfred Schmitt, Marguerite Hureaux, Rosa Vargas‐Poussou, Nicolas Touret, Emmanuelle Cordat

This study investigates how SLC4A1 mutations in dRTA affect intracellular pH and autophagy in mouse kidney cells.

eLife · Mar 4, 2026Peer-reviewedPhysiology

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

Karl P. Schlingmann, François Jouret, Kuang Shen, Anukrati Nigam, Francisco J. Arjona, Claudia Dafinger, Pascal Houillier, Deborah P. Jones, Felix Kleinerüschkamp, Jun Seok Oh, Nathalie Godefroid, Mehmet Eltan, Tülay Güran, Stéphane Burtey, Marie-Christine Parotte, , 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.

bioRxiv · Mar 11, 2021 · PreprintGenetics