A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disorders
Year: 2025
Type: article
Language: en
Topic: Skin and Cellular Biology Research
Authors and affiliations:
raw_author_name: Nuria Pell
raw_affiliation_strings: PEFAVar and Department of Cell Biology and Cytology, Federative Institute of Biology, Purpan Hospital, University Hospital, Toulouse, France
Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Pauline Bernard
raw_affiliation_strings: Reference Center for Rare Skin Diseases, Dermatology Department, CHU Toulouse, Toulouse University, Toulouse, France
Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Séverine Courrech
raw_affiliation_strings: Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Lukas Opalka
raw_affiliation_strings: Faculty of Pharmacy, Charles University, Hradec Králové, Czech Republic
raw_author_name: Aina Millán-Sánchez
raw_affiliation_strings: Institute for Advanced Chemistry of Catalonia (IQAC-CSIC), Barcelona, Spain
raw_author_name: Elise Levy
raw_affiliation_strings: Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Séverine Garnier
raw_affiliation_strings: Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Cyrielle Clément
raw_affiliation_strings: I2MC, Inserm, Toulouse University, Toulouse, France
MetaboHUB-MetaToul, National Infrastructure of Metabolomics and Fluxomics, Toulouse, France
raw_author_name: Pauline Le Faouder
raw_affiliation_strings: I2MC, Inserm, Toulouse University, Toulouse, France
MetaboHUB-MetaToul, National Infrastructure of Metabolomics and Fluxomics, Toulouse, France
raw_author_name: Katerina Vávrová
raw_affiliation_strings: Faculty of Pharmacy, Charles University, Hradec Králové, Czech Republic
raw_author_name: Olga López
raw_affiliation_strings: Institute for Advanced Chemistry of Catalonia (IQAC-CSIC), Barcelona, Spain
raw_author_name: Justine Bertrand-Michel
raw_affiliation_strings: I2MC, Inserm, Toulouse University, Toulouse, France
MetaboHUB-MetaToul, National Infrastructure of Metabolomics and Fluxomics, Toulouse, France
raw_author_name: Corinne Leprince
raw_affiliation_strings: Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Isabelle Fourquaux
raw_affiliation_strings: Centre de Microscopie Electronique Appliquée à la Biologie, Toulouse University, Toulouse, France
raw_author_name: José-Enrique Mejia
raw_affiliation_strings: Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Jean-Christophe Pagès
raw_affiliation_strings: PEFAVar and Department of Cell Biology and Cytology, Federative Institute of Biology, Purpan Hospital, University Hospital, Toulouse, France
RESTORE Institute, UMR INSERM 1301 CNRS U5070, UT, ENVT, EFS, Toulouse, France
raw_author_name: Juliette Mazereeuw-Hautier
raw_affiliation_strings: Reference Center for Rare Skin Diseases, Dermatology Department, CHU Toulouse, Toulouse University, Toulouse, France
Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France
raw_author_name: Nathalie Jonca
raw_affiliation_strings: PEFAVar and Department of Cell Biology and Cytology, Federative Institute of Biology, Purpan Hospital, University Hospital, Toulouse, France
Toulouse Institute for Infectious and Inflammatory Diseases (INFINITy), Toulouse University, CNRS, Inserm, Toulouse, France