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March 06 - 2019

Overgrowth syndromes - clinical and molecular aspects and tumour risk (Équipe Netchine) Frédéric Brioude, Annick Toutain, Eloise Giabicani, Edouard Cottereau, Valérie Cormier-Daire, Irene Netchine

Nat Rev Endocrinol. 2019;15(5):299-311 Overgrowth syndromes are a heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with...
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CHOSSEGROS Manon

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June 15 - 2019

Sleep disordered breathing in Silver−Russell syndrome patients: A new outcome (Équipe Netchine) Éloïse Giabicani, Michèle Boulé, Guillaume Aubertin, Eva Galliani, Frédéric Brioude, Béatrice Dubern, Irène Netchine

Sleep Med. 2019;on line Objective ; Imprinting disorders (ID), such as Prader−Willi syndrome (PWS), are associated with sleep-disordered breathing (SDB). No data are available for...
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April 30 - 2019

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion (Équipe Netchine) Éloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude

Front Endocrinol (Lausanne). 2019;10:263 We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double...
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CHOUCHÈNE Mouna

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October 07 - 2019

Increasing knowledge in IGF1R defects: lessons from 35 new patients (Équipe Netchine) Éloïse Giabicani, Marjolaine Willems, Virginie Steunou, Sandra Chantot-Bastaraud, Nathalie Thibaud, Walid Abi Habib, Salah Azzi, Bich Lam, Laurence Bérard, Hélène Bony-Trifunovic, Cécile Brachet, Élise Brischoux-Boucher, Emmanuelle Caldagues, Régis Coutant, Marie-Laure Cuvelier, Georges Gelwane, Isabelle Guemas, Muriel Houang, Bertrand Isidor, Claire Jeandel, James Lespinasse, Catherine Naud-Saudreau, Monique Jesuran-Perelroizen, Laurence Perrin, Juliette Piard, Claire Sechter, Pierre-Francois S

J Med Genet. 2019 Background : The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a...
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CHWETZOFF Serge

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March 08 - 2019

Genetic effects on the commensal microbiota in inflammatory bowel disease patients (Équipe Seksik/Sokol) Hugues Aschard , Vincent Laville, Eric Tchetgen, Dan Knights, Floris Imhann, Philippe Seksik, Noah Zaitlen, Mark S. Silverberg, Jacques Cosnes, Rinse K. Weersma, Ramnik Xavier, Laurent Beaugerie, David Skurnik , Harry Sokol

PLoS Genet. 2019;15(3):e1008018 Several bacteria in the gut microbiota have been shown to be associated with inflammatory bowel disease (IBD), and dozens of IBD genetic variants have been...
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January 10 - 2019

Predictive Value of Cellular Accumulation of Hydrophobic Bile Acids As a Marker of Cholestatic Drug Potential (Équipe Seksik/Sokol) Audrey Burban, Ahmad Sharanek, Lydie Humbert, Thibaut Eguether Christiane Guguen-Guillouzo Dominique Rainteau André Guillouzo

Toxicol Sci. 2019;168(2):474-85 Drug-induced cholestasis is mostly intrahepatic and characterized by alterations of bile canaliculi dynamics and morphology as well as accumulation of bile...
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October 28 - 2019

Palmitic acid damages gut epithelium integrity and initiates inflammatory cytokine production (Équipe Seksik/Sokol) Sara Ghezzal, Barbara Graziela Postal, Elodie Quevrain, Loïc Brot, Philippe Seksik, Armelle Leturque, Sophie Thenet, Véronique Carrière

Biochim Biophys Acta Mol Cell Biol Lipids. 2020;1865(2):158530 The mechanisms leading to the low-grade inflammation observed during obesity are not fully understood. Seeking the initiating...
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August 02 - 2019

Baseline microbiota composition modulates antibiotic-mediated effects on the gut microbiota and host (Équipe Seksik/Sokol) Aonghus Lavelle, Thomas Walter Hoffmann, Hang-Phuong Pham, Philippe Langella, Eric Guedon, Harry Sokol

Microbiome. 2019;7(1):111 Background : Normal mammalian development and homeostasis are dependent upon the gut microbiota. Antibiotics, essential for the treatment and prophylaxis of...
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CLOSSET Lara

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March 01 - 2019

Intestinal plasticity in response to nutrition and gastrointestinal surgery (Équipe Seksik/Sokol) Maude Le Gall, Sophie Thenet, Doriane Aguanno, Anne-Charlotte Jarry, Laurent Genser, Lara Ribeiro-Parenti, Francisca Joly, Séverine Ledoux, André Bado, Johanne Le Beyec

Nutr Rev. 2019;77(3):129-43 The plasticity of a material corresponds to its capacity to change its feature under the effect of an external action. Intestinal plasticity could be defined as...
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February 07 - 2019

TGR5-dependent hepatoprotection through the regulation of biliary epithelium barrier function (Équipe Seksik/Sokol) Grégory Merlen, Nicolas Kahale, Jose Ursic-Bedoya, Valeska Bidault-Jourdainne, Hayat Simerabet, Isabelle Doignon, Zahra Tanfin, Isabelle Garcin, Noémie Péan, Julien Gautherot, Anne Davit-Spraul, Catherine Guettier, Lydie Humbert, Dominique Rainteau, Klaus Ebnet, Christoph Ullmer, Doris Cassio, Thierry Tordjmann

Gut. 2019 Objective : We explored the hypothesis that TGR5, the bile acid (BA) G-protein-coupled receptor highly expressed in biliary epithelial cells, protects the liver against BA...
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March 01 - 2019

The gut mycobiota: insights into analysis, environmental interactions and role in gastrointestinal diseases (Équipe Seksik/Sokol) Mathias L. Richard, Harry Sokol

Nat Rev Gastroenterol Hepatol. 2019;16(6):331-45 The gut microbiota is a dense and diverse ecosystem that is involved in many physiological functions as well as in disease pathogenesis. It...
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COLASSE Sabrina

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COLLE Raphaël

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September 12 - 2018

Modern-day environmental factors in the pathogenesis of osteoarthritis (Équipe Berenbaum) Francis Berenbaum, Ian J. Wallace, Daniel E. Lieberman, David T. Felson

Nat Rev Rheumatol. 2018;14(11):674-81 The prevalence of osteoarthritis (OA) is rising for reasons that are not fully understood. In this Opinion article, we review the possibility that OA...
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COLLURA Ada

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December 22 - 2018

The Phenotypic Approach to Osteoarthritis: A Look at Metabolic Syndrome-Associated Osteoarthritis (Équipe Berenbaum) Alice Courties, Francis Berenbaum, Jérémie Sellam

Joint Bone Spine. 2018 Metabolic syndrome-associated osteoarthritis (Met-OA) is a clinical phenotype defined by the role of obesity and metabolic syndrome as risk factors and by chronic...
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March 01 - 2018

FAM13A is a modifier gene of cystic fibrosis lung phenotype regulating rhoa activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition (Équipes Corvol, Prunier) Harriet Corvol, Nathalie Rousselet, Kristin E. Thompson, Laura Berdah, Guillaume Cottin, Tobias Foussigniere, Elisabeth Longchampt, Laurence Fiette, Edouard Sage, Céline Prunier, Mitchell Drumm, Craig A. Hodges, Pierre-Yves Boëlle, Loic Guillot

J Cyst Fibros. 2018;17(2):190-203 Background : Cystic fibrosis (CF) lung disease severity is highly variable and dependent on several factors including genetic modifiers. Family with...
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April 15 - 2018

The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks (Équipe Fève) Nolwenn Briand, Anne-Claire Guénantin, Dorota Jeziorowska, Akshay Sha, Matthieu Mantecon, Émilie Capel, Marie Garcia, Anja Oldenburg, Jonas Paulsen, Jean-Sébastien Hulot, Corinne Vigouroux, Philippe Collas

Hum Mol Genet. 2018;27(8):1447-59 The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated...
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July 25 - 2018

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue (Équipe Fève) Emilie Capel, Camille Vatier, Pascale Cervera, Tanya Stojkovic, Emmanuel Disse, Anne-Ségolène Cottereau, Martine Auclair, Marie-Christine Verpont, Héléna Mosbah, Pierre Gourdy, Sara Barraud, Anne Miquel, Stephan Züchner, Amélie Bonnefond, Philippe Froguel, Sophie Christin-Maitre, Brigitte Delemer, Bruno Fève, Martine Laville, Juliette Robert, Florence Tenenbaum, Olivier Lascols, Corinne Vigouroux, Isabelle Jéru

J Clin Lipidol. 2018;12(6):1420-35 Background : Multiple symmetric lipomatosis (MSL) is characterized by upper-body lipomatous masses frequently associated with metabolic and neurological...
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CORPECHOT Christophe

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March 27 - 2018

Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives (Équipe Fève) Corinne Vigouroux, Anne-Claire Guénantin, Camille Vatier, Émilie Capel, Caroline Le Dour, Pauline Afonso, Guillaume Bidault, Véronique Béréziat, Olivier Lascols, Jacqueline Capeau, Nolwenn Briand, Isabelle Jéru

Nucleus. 2018;9(1):235-48 Mutations in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and premature ageing syndromes. LMNA...
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April 19 - 2018

The nuclear retinoid-related orphan receptor RORalpha controls circadian thermogenic programming in white fat depots (Équipe Fève) Chloé Monnier, Martine Auclair, Gala Le Cam, Marie‐Pauline Garcia, Bénédicte Antoine

Physiol Rep. 2018;6(8):e13678 The RORalpha-deficient staggerer (sg/sg) mouse is lean and resistant to diet-induced obesity. Its thermogenic activity was shown to be increased not only in...
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CORVOL Harriet

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August 02 - 2018

Thyrocyte-specific deletion of insulin and IGF-1 receptors induces papillary thyroid carcinoma-like lesions through EGFR pathway activation (Équipe Holzenberger) Sangmi Ock, Jihyun Ahn, Seok Hong Lee, Hyun Min Kim, Hyun Kang, Young‐Kook Kim, Hyun Kook, Woo Jin Park, Shin Kim, Shioko Kimura, Chan Kwon Jung, Minho Shong, Martin Holzenberger, E. Dale Abel, Tae Jin Lee, Bo Youn Cho, Ho‐Shik Kim, Jaetaek Kim

Int J Cancer. 2018;143(10):2458-69 Insulin and insulin-like growth factor (IGF)-1 signaling in the thyroid are thought to be permissive for the coordinated regulation by thyroid-stimulating...
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COULET Florence

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June 07 - 2018

A Placebo-Controlled Trial of Bezafibrate in Primary Biliary Cholangitis (Équipe Housset) Christophe Corpechot, Olivier Chazouillères, Alexandra Rousseau, Antonia Le Gruyer, François Habersetzer, Philippe Mathurin, Odile Goria, Pascal Potier, Anne Minello, Christine Silvain, Armand Abergel, Maryline Debette-Gratien, Dominique Larrey, Olivier Roux, Jean-Pierre Bronowicki, Jérôme Boursier, Victor de Ledinghen, Alexandra Heurgue-Berlot, Eric Nguyen-Khac, Fabien Zoulim, Isabelle Ollivier-Hourmand, Jean-Pierre Zarski, Gisèle Nkontchou, Sara Lemoinne, Lydie Humbert, Dominique Rainteau, Gui

N Engl J Med. 2018;378(23):2171-81 Background : Patients with primary biliary cholangitis who have an inadequate response to therapy with ursodeoxycholic acid are at high risk for disease...
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St. Antoine Hospital

INSERM
Kourilsky Building
34 rue Crozatier - 75012 Paris
France

Sorbonne Université Medicine
Saint-Antoine Site
27 rue Chaligny - 75012 Paris
France

+(33)1 49 28 46 00
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