Résultat de recherche

27 - Juin - 2019

A mutation inactivating the distal SF1 binding site on the human anti-Mullerian hormone promoter causes persistent Mullerian duct syndrome (Équipe Fève) Helena F. Schteingart, Jean-YvesPicard, Clara Valeri, Ian Marshall, Dominique Treton, Nathalie di Clemente, Rodolfo A. Rey, Nathalie Josso

Hum Mol Genet. 2019;28(19):3211-8 The persistent Mullerian duct syndrome (PMDS) is a 46,XY disorder of sexual development characterized by the persistence of Mullerian duct derivatives,...

CHAZOUILLÈRES Olivier

19 - Décembre - 2019

Breast-Associated Adipocytes Secretome Induce Fatty Acid Uptake and Invasiveness in Breast Cancer Cells via CD36 Independently of Body Mass Index, Menopausal Status and Mammary Density (Équipes Larsen/Sabbah – Fève – Seksik/Sokol) Maurice Zaoui, Mehdi Morel, Nathalie Ferrand, Soraya Fellahi, Jean-Philippe Bastard, Antonin Lamaziere, Annette Kragh Larsen, Véronique Béréziat, Michael Atlan, Michèle Sabbah

Cancers (Basel). 2019;11(12) Breast adiposity is correlated with body mass index, menopausal status and mammary density. We here wish to establish how these factors influence the cross-talk...

15 - Avril - 2019

Ci-hox12 tail gradient precedes and participates in the control of the apoptotic-dependent tail regression during Ciona larva metamorphosis (Équipe Prunier) G. Krasoveca, K. Robinea, E. Quéinnec, A. Karaiskoub, J.P. Chambon

Dev Biol. 2019;448(2):237-46 At the onset of the Ciona intestinalis metamorphosis, the first event is tail regression characterized, by a contraction, an apoptotic wave and Primordial Germ...

11 - Février - 2019

SERPINA1 Z allele is associated with cystic fibrosis liver disease (Équipe Corvol) Pierre-Yves Boëlle, Dominique Debray, Loic Guillot, Harriet Corvol & on behalf of the French CF Modifier Gene Study Investigators

Genetics in Medicine 2019 Purpose : The SERPINA1 Z allele is associated with cystic fibrosis (CF)-related liver disease (CFLD), a common manifestation in patients with CF. We estimated...

CHIGNARD Nicolas

24 - Septembre - 2019

Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders (Équipe Housset / Fève) Christophe Corpechot, Véronique Barbu, Olivier Chazouillères, Pierre Broue, Muriel Girard, Bertrand Roquelaure, Yves Chrétien, Catherine Dong, Olivier Lascols, Chantal Housset, Isabelle Jéru

Liver Int. 2019 Background and aims : The ABCC2 gene is implicated in Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver disorder. The primary aim of this study was to determine...

05 - Avril - 2019

Atmospheric pressure plasma jets applied to cancerology: correlating electrical configuration with in vivo toxicity and therapeutic efficiency (Équipe Housset) F Judée, J Vaquero, S Guégan, L Fouassier, T Dufour

Journal of Physics D: Applied Physics. 2019;52(24) Two atmospheric pressure plasma jet (APPJ) devices—a plasma gun and a plasma Tesla jet—are compared in terms of safety and...

CHOSSEGROS Manon

19 - Avril - 2019

Fungi participate in the dysbiosis of gut microbiota in patients with primary sclerosing cholangitis (Équipe Housset & Seksik-Sokol) Sara Lemoinne, Astrid Kemgang, Karima Ben Belkacem, Marjolène Straube, Sarah Jegou, Christophe Corpechot, Saint-Antoine I. B. D. Network, Olivier Chazouilleres, Chantal Housset, Harry Sokol

Gut. 2019 Objective : Patients with primary sclerosing cholangitis (PSC) were previously shown to display a bacterial gut dysbiosis but fungal microbiota has never been examined in these...

15 - Mars - 2019

Simple Magnetic Resonance Scores Associate With Outcomes of Patients With Primary Sclerosing Cholangitis (Équipe Housset) Sara Lemoinne, Nora Cazzagon, Sanaâ El Mouhadi, Palak J. Trivedi, Anthony Dohan, Astrid Kemgang, Karima Ben Belkacem, Chantal Housset, Yves Chretien, Christophe Corpechot, Gideon Hirschfield, Annarosa Floreani, Raffaella Motta, Benoit Gallix, Alan Barkun, Jeffrey Barkun, Olivier Chazouillères, Lionel Arrivé

Clin Gastroenterol Hepatol. 2019 Background & Aims : Primary sclerosing cholangitis (PSC) has a variable, often progressive course. Magnetic resonance cholangiography (MRC) is used in...

CHOUCHÈNE Mouna

30 - Avril - 2019

Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models (Équipe Housset) Virginie Vauthier, Amel Ben Saad, Jonathan Elie, Nassima Oumata, Anne-Marie Durand-Schneider, Alix Bruneau, Jean-Louis Delaunay, Chantal Housset, Tounsia Aït-Slimane, Laurent Meijer, Thomas Falguières

Sci Rep. 2019;9(1):6653 Adenosine triphosphate binding cassette transporter, subfamily B member 4 (ABCB4) is the transporter of phosphatidylcholine at the canalicular membrane of...

CHWETZOFF Serge

20 - Février - 2019

Transcriptional profiling at DLK1/MEG3 domain explains clinical overlap between imprinting disorders (Équipe Netchine) Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart, Marie-Laure Sobrier, Éloïse Giabicani, Virginie Steunou, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine

Sci. Adv. 2019; 5 : eaau9425 Clinical and molecular overlap in imprinting disorders Imprinting disorders (ID) often affect growth in humans, leading to diseases with overlapping...

06 - Mars - 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...

15 - Juin - 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...

30 - Avril - 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...

CLOSSET Lara

07 - Octobre - 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...

08 - Mars - 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...

10 - Janvier - 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...

COLASSE Sabrina

28 - Octobre - 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...

COLLE Raphaël

COLLURA Ada

02 - Août - 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...

01 - Mars - 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...

07 - Février - 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...

01 - Mars - 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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