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.
Papers
More filters
Journal ArticleDOI
The polymorphic carboxyl-ester lipase (CEL) gene: novel copy number variants (CNVs) identified by both classical and high-throughput genetic analysis
Karianne Fjeld,Emmanuelle Masson,Patrick Michl,Tomasz Stokowy,He Lin,Solrun J. Steine,Bente B. Johansson,Monica Dalva,Khadija El Jellas,Claudia Ruffert,Wen-Bin Zou,Zhao-Shen Li,Pål R. Njølstad,Jian-Min Chen,Zhuan Liao,Stefan Johansson,Jonas Rosendahl,Claude Férec,Anders Molven +18 more
Posted ContentDOI
RNA secondary structure mediated by Alu insertion as a novel disease-causing mechanism
TL;DR: Using FLGEA, this work provides convincing evidence that Alu-Ins disrupts splicing by forming RNA secondary structures with Alu1 in the pre-mRNA sequence, which has implications for Alu detection and interpretation in human disease genes.
Posted ContentDOI
A proposed general variant classification framework using chronic pancreatitis as a disease model
Emmanuelle Masson,Wen-Bin Zou,Emmanuelle Génin,Dominique Cooper,Gérald Le Gac,Yann Fichou,Na Pu,Vinciane Rebours,Claude Férec,Zetao Liao,J. Chen +10 more
TL;DR: Chronic pancreatitis (CP), which clinically manifests as hereditary, familial, idiopathic or alcoholic forms, is used as a disease model and two new classificatory categories, "predisposing" and "likely predisposing" are employed, which retain the backbone of the five ACMG-AMP categories while rendering them readily applicable to variant classification in other disease contexts.
Journal ArticleDOI
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group
Emmanuelle Masson,Wen-Bin Zou,Na Pu,Vinciane Rebours,Emmanuelle Génin,Hao Wu,Jin-Huan Lin,Yuan-Chen Wang,Amandine Abrantes,Lina Aguilera Munoz,Jérémie Albouys,Laurent Alric,Xavier Amiot,Isabelle Archambeaud,L. Bastide,Julien Baudon,Guy Bellaiche,S. Bellon,Valérie Bertrand,Karine Bideau,Kareen Billiemaz,Claire Billioud,Corinne Borderon,Barbara Bournet,E. Breton,Mathias Brugel,Louis Buscail,Guillaume Cadiot,Marine Camus,Xavier Causse,P. Chamouard,Ulriikka Chaput,Franck Cholet,Christine Clavel,Benoit Coffin,Isabelle Creveaux,Adrian Culetto,Oussama Daboussi,Louis de Mestier,Thibault Degand,Christelle d’Engremont,Bernard Denis,Solène Dermine,Romain Desgrippes,Raphaël Enaud,Alexandre Fabre,Dany Gargot,Eve Gelsi,Elena Gentilcore,Rodica Gincul,Marc Giovannini,C Gomercic,Hannah Gondran,Thomas Grainville,Philippe Grandval,Denis Grasset,Stéphane Grimaldi,S. Grimbert,Hervé Hagège,Sophie Heissat,Olivia Hentic,Anne Herber-Mayne,M. Hervouet,S Hoibian,Jérémie Jacques,B Jais,Mehdi Kaassis,Stéphane Koch,Elodie Lacaze,J. Lacroute,Thierry Lamireau,Lucie Laurent,Xavier Le Guillou,Marc Le Rhun,Sarah Leblanc,Philippe Lévy,Astrid Lièvre,Diane Lorenzo,Frédérique Maire,Clement Matias,Jacques Mauillon,Stephanie Morgant,Driffa Moussata,Nelly Muller,Sophie Nambot,Bertrand Napoleon,A.-L. Olivier,Mael Pagenault,Anne-Laure Pelletier,Olivier Pennec,F Pinard,Mathieu Pioche,B. Prost,Lucille Quénéhervé,Noémi Reboux,Samia Rekik,Ghassan Riachi,B. Rohmer,Bertrand Roquelaure,I. Rosa Hezode,Florian Rostain,Jean-Christophe Saurin,Laurence Servais,Roxana Stan-Iuga,Clément Subtil,Charles Henri Texier,Lucie Thomassin,David Tougeron,Laurent Tsakiris,Jean-Christophe Valats,Lucine Vuitton,Timothée Wallenhorst,Helene Zanaldi,Frank Zerbib,Chen Bai,Yun Bian,Zhen-zhai Cai,Xiaohui Chang,Guoxi Chen,Liang Cheng,Yu Ling Chen,Jinyong Guo,Tao Guo,Jun Han,Chao Hui He,Liang-Hao Hu,Hao Huang,Liya Huang,Si Huang,Wei Huang,Fei Jiang,Hui Jiang,Fengying Lu,Guotao Lu,Zi-peng Lu,Hui-Ping Li,Jing Li,Le Li,Qiang Liu,Xiao-Yu Li,Qing Lin,Yu-Li Lin,Gai Liu,Jie Liu,Lixin Liu,Pi Liu,Yipeng Liu,Dong Lu,Xiaodong Shao,Zhuo Shao,Xuelu Song,Lei Wang,Lijuan Wang,Lishi Wang,Lin Wang,Wei Wang,Zheng Wang,Li Wen,Xi Hui Wu,Lei Xin,Jing Xue,Hong Yang,Jianfeng Yang,Tao Yin,Guo-wei Zhang,Hong-Jiang Zhang,Yi Zhao,Sijie Zhou,Ke Zhu,Zhaosheng Li,David Neil Cooper,Claude Férec,Zhuan Liao,Jianmin Chen +173 more
Journal ArticleDOI
Analysis of GPRC6A variants in different pancreatitis etiologies.
Tom Kaune,Claudia Ruffert,Nico Hesselbarth,Marko Damm,Sebastian Krug,Julian Cardinal von Widdern,Emmanuelle Masson,Jian-Min Chen,Vinciane Rebours,Louis Buscail,Claude Férec,Robert Grützmann,Rene H. M. te Morsche,Joost P.H. Drenth,Giulia Martina Cavestro,Raffaella Alessia Zuppardo,Adrian Saftoiu,Ewa Małecka-Panas,Stanisław Głuszek,Peter Bugert,Markus M. Lerch,Matthias Sendler,Frank Ulrich Weiss,Wen Bin Zou,Shun Jiang Deng,Zhuan Liao,Markus Scholz,Holger Kirsten,Péter Hegyi,Heiko Witt,Patrick Michl,Heidi Griesmann,Jonas Rosendahl +32 more
TL;DR: The results support a potential role of calcium sensing receptors and inflammasome activation in alcoholic chronic pancreatitis development and suggest the GPRC6A locus is a reasonable candidate gene for pancreatitis.