Author

Thierry Christian Brue

InsermORCID 0000-0001-8482-6691Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Anne BarlieriD· 2 shared Frédéric CastinettiiD· 2 shared Alexander A.L. JorgeiD· 1 shared Alexandru SaveanuiD· 1 shared Ana Claudia KeselmaniD· 1 shared Andrew Nahum DauberiD· 1 shared Ayse Bilge OzeliD· 1 shared Berenice Bilharinho MendoncaiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersDevelopmental Biology

Anne BarlierORCID

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2 papers

Recent·Most cited

Modeling corticotroph deficiency with pituitary organoids supports the functional role of NFKB2 in human pituitary differentiation

Thi Thom Mac, Teddy Fauquier, Nicolas Jullien, Pauline Romanet, Heather Etchevers, Anne Barlier, Frédéric Castinetti, Thierry Christian Brue

This study uses CRISPR/Cas9-edited human pituitary organoids to show that NFKB2 mutations impair corticotroph differentiation, confirming its role in ACTHD.

eLife · Nov 28, 2024Peer-reviewedDevelopmental Biology

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Péter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh, Sebastian Alexis Vishnopolska, Frédéric Castinetti, Mariam Maksutova, Luciani R. S. Carvalho, Julia Hoppmann, Julian Martinez-Mayer, F. Albarel, Debora Giselle Braslavsky, Ana Claudia Keselman, Ignacio Bergadá, , Sally Ann Camper

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

The American Journal of Human Genetics · Jul 15, 2021Peer-reviewedGenetic & Genomic Medicine