E
Emmanuelle Masson
Researcher at French Institute of Health and Medical Research
Publications - 75
Citations - 2039
Emmanuelle Masson is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Pancreatitis & Gene. The author has an hindex of 20, co-authored 66 publications receiving 1586 citations. Previous affiliations of Emmanuelle Masson include University of Western Brittany.
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5’ splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity
Jin-Huan Lin,Emmanuelle Masson,Arnaud Boulling,Matthew J. Hayden,David N. Cooper,Claude Férec,Zhuan Liao,Jian-Min Chen +7 more
TL;DR: The results establish a proof of concept that +2C>T variants are qualitatively different from +2T>C variants in terms of their functionality and pathogenicity and suggest that, in sharp contrast with -2T >C variants, most if not all -2C >T variants have no pathological relevance.
Posted ContentDOI
p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis
Miguel Burgos,Reginald Philippe,Fabrice Antigny,Fabrice Antigny,Paul Buscaglia,Emmanuelle Masson,Sreya Mukherjee,Pauline Dubar,Cédric Le Maréchal,F. Campeotto,Nicolas Lebonvallet,Maud Frieden,Juan Llopis,Beatriz Domingo,Peter B. Stathopulos,Mitsuhiko Ikura,Wesley H. Brooks,Wayne C. Guida,Jian-Min Chen,Claude Férec,Thierry Capiod,Olivier Mignen +21 more
TL;DR: A p.E152K-STIM1 variant found in pancreatitis patients leads to intracellular changes in calcium homeostasis through SERCA interaction, enabling intrACEllular trypsin activation and pancreatic acinar cell death.
Journal ArticleDOI
2* Identification of two Alu insertions in the CFTR gene
M.-P. Audrézet,Emmanuelle Masson,Milan Macek,O. Raguenes,Brigitte Fercot,Jian-Min Chen,Claude Férec +6 more
Journal ArticleDOI
Sitagliptin-Associated Pancreatitis: A Report of 4 Cases
Aude Garin,Florence Bouillou,Emmanuelle Masson,Olivier Blétry,Alfred Penfornis,Pascal Hammel +5 more
TL;DR: Sitagliptin is a new oral glucose-loweri ng medication that acts via the incretin hormone system and the most common side-effects are headache and pharyngitis.
Posted ContentDOI
First estimation of the scale of canonical 5’ splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications
Jin-Huan Lin,Jin-Huan Lin,Xin-Ying Tang,Arnaud Boulling,Wen-Bin Zou,Emmanuelle Masson,Yann Fichou,Loann Raud,Marlène Le Tertre,Shun-Jiang Deng,Isabelle Berlivet,Chandran Ka,Matthew Mort,Matthew J. Hayden,Gérald Le Gac,David N. Cooper,Zhao-Shen Li,Claude Férec,Zhuan Liao,Jian-Min Chen +19 more
TL;DR: The findings imply that 5’SS GT>GC mutations may not invariably cause human disease but should also help to improve the understanding of the evolutionary processes that accompanied GT> GC subtype switching of U2-type introns in mammals.