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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Journal ArticleDOI
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
Heiko Witt,Sebastian Beer,Jonas Rosendahl,Jian-Min Chen,Jian-Min Chen,Giriraj R. Chandak,Atsushi Masamune,Melinda Bence,Richárd Szmola,Richárd Szmola,Grzegorz Oracz,Milan Macek,Eesh Bhatia,Sandra Steigenberger,Denise Lasher,Florence Bühler,Catherine Delaporte,Johanna Tebbing,Maren Ludwig,Claudia Pilsak,Karolin Saum,Peter Bugert,Emmanuelle Masson,Emmanuelle Masson,Sumit Paliwal,Seema Bhaskar,Agnieszka Sobczynska-Tomaszewska,Daniel Bak,Ivan Balascak,Gourdas Choudhuri,D. Nageshwar Reddy,G Venkat Rao,Varghese Thomas,Kiyoshi Kume,Eriko Nakano,Yoichi Kakuta,Tooru Shimosegawa,Lukasz Durko,András Szabó,Andrea Schnúr,Andrea Schnúr,Péter Hegyi,Zoltán Rakonczay,Roland H. Pfützer,Alexander Schneider,David A. Groneberg,Markus Braun,Hartmut Schmidt,Ulrike Witt,Helmut Friess,Hana Algül,Olfert Landt,Markus Schuelke,Renate Krüger,Bertram Wiedenmann,Frank Schmidt,Klaus Peter Zimmer,Peter Kovacs,Michael Stumvoll,Matthias Blüher,Thomas Müller,Andreas R. Janecke,Niels Teich,Robert Grützmann,Hans Ulrich Schulz,Joachim Mössner,Volker Keim,Matthias Löhr,Claude Férec,Claude Férec,Miklós Sahin-Tóth +70 more
TL;DR: The mechanism by which CPA1 variants confer increased pancreatitis risk may involve misfolding-induced endoplasmic reticulum stress rather than elevated trypsin activity, as is seen with other genetic risk factors for this disease.
Journal ArticleDOI
Hereditary pancreatitis caused by triplication of the trypsinogen locus
Cédric Le Maréchal,Emmanuelle Masson,Emmanuelle Masson,Jian-Min Chen,Jian-Min Chen,Frédéric Morel,Philippe Ruszniewski,Philippe Lévy,Claude Férec +8 more
TL;DR: This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.
Journal ArticleDOI
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
Emmanuelle Masson,Emmanuelle Masson,Jian-Min Chen,Jian-Min Chen,Virginie Scotet,Virginie Scotet,Cédric Le Maréchal,Claude Férec +7 more
TL;DR: Analysis of the CTRC gene for conventional genetic variants and copy number variations by direct sequencing and quantitative fluorescent multiplex PCR indicated that CTRC is a new pancreatitis susceptibility gene.
Journal ArticleDOI
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
Karianne Fjeld,Frank Ulrich Weiss,Denise Lasher,Jonas Rosendahl,Jian-Min Chen,Jian-Min Chen,Bente B. Johansson,Bente B. Johansson,Holger Kirsten,Claudia Ruffert,Emmanuelle Masson,Solrun J. Steine,Peter Bugert,Miriam Cnop,Robert Grützmann,Julia Mayerle,Joachim Mössner,Monika Ringdal,Monika Ringdal,Hans-Ulrich Schulz,Matthias Sendler,Peter Simon,Paweł Sztromwasser,Paweł Sztromwasser,Janniche Torsvik,Janniche Torsvik,Markus Scholz,Erling Tjora,Erling Tjora,Claude Férec,Heiko Witt,Markus M. Lerch,Pål R. Njølstad,Pål R. Njølstad,Stefan Johansson,Stefan Johansson,Anders Molven,Anders Molven +37 more
TL;DR: A hybrid allele (CEL-HYB) originating from a crossover between CEL and its neighboring pseudogene, CELP is described, implicate a new pathway distinct from the protease-antiprotease system of pancreatic acinar cells in chronic pancreatitis.
Journal ArticleDOI
Polymorphisms at PRSS1–PRSS2 and CLDN2–MORC4 loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study
Monique Derikx,Peter Kovacs,Markus Scholz,Emmanuelle Masson,Jian-Min Chen,Claudia Ruffert,Peter Lichtner,Rene H. M. te Morsche,Giulia Martina Cavestro,Claude Férec,Joost P H Drenth,Heiko Witt,Jonas Rosendahl +12 more
TL;DR: The single-nucleotide polymorphisms rs10273639 at the PRSS1–PRSS2 locus and rs7057398 and rs12688220 at the CLDN2–MORC4 locus are associated with CP and strongly associate with ACP, but only rs70 57398 with NACP in female patients.