Author

Clothilde Estève

InsermORCID 0000-0001-9369-4168Unclaimed 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· 2 Research Focus:differential expression· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Nicolas LévyiD· 2 shared Adeline Spiga GhataiD· 1 shared Alexandre FabreiD· 1 shared André MégarbanéiD· 1 shared Ange‐Line BrueliD· 1 shared Arnaud Blanchard· 1 shared Arnauld Delarue· 1 shared Aurélie Bourchany· 1 shared

Activity by Year

2017-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersNeuroscience

Nicolas LévyORCID

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2 papers

Recent·Most cited

NeurosciencebioRxivPreprintJan 20, 2022

Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H

Lara El-Bazzal, Adeline Spiga Ghata, Clothilde Estève…·Nathalie Bernard‐Marissal

This study identifies FGD4/FRABIN's role in regulating NRG1/ErbB2/3 signaling and myelination in CMT4H, showing that restoring this pathway with niacin reduces myelin outfoldings.

DOI 10.1101/2022.01.20.477077

mouseexperimental assay

𝕏 PostBluesky

GeneticsbioRxivPreprintOct 26, 2017

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan…·Alexandre Fabre

The paper identifies biallelic UNC45A mutations as the cause of O2HE syndrome, characterized by cholestasis, congenital diarrhea, hearing loss, and bone fragility.

DOI 10.1101/208942

humanwhole-exome sequencing

𝕏 PostBluesky