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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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CORNEAU Aurélien

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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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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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CORPECHOT Christophe

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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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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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COULET Florence

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December 01 - 2018

Diet-Induced Dysbiosis and Genetic Background Synergize With Cystic Fibrosis Transmembrane Conductance Regulator Deficiency to Promote Cholangiopathy in Mice (Équipes Housset - Seksik/Sokol) Dominique Debray, Haquima El Mourabit, Fatiha Merabtene, Loïc Brot, Damien Ulveling, Yves Chrétien, Dominique Rainteau, Ivan Moszer, Dominique Wendum, Harry Sokol, Chantal Housset

Hepatol Commun. 2018;2(12):1533-49 The most typical expression of cystic fibrosis (CF)-related liver disease is a cholangiopathy that can progress to cirrhosis. We aimed to determine the...
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October 08 - 2018

Endoplasmic reticulum stress induces inverse regulations of major functions in portal myofibroblasts during liver fibrosis progression (Équipe Housset) Emilien Loeuillard, Haquima El Mourabit, Lin Lei, Sara Lemoinne, Chantal Housset, Axelle Cadoret

Biophys Acta Mol Basis Dis. 2018;1864(12):3688-96 Portal myofibroblasts (PMF) form a sub-population of highly proliferative and proangiogenic liver myofibroblasts that derive from portal...
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COULOMB Aurore

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December 19 - 2018

LCR1 and LCR2, two multi-analyte blood tests to assess liver cancer risk in patients without or with cirrhosis (Équipe Housset) Thierry Poynard, Valentina Peta, Olivier Deckmyn, Mona Munteanu, Joseph Moussalli, Yen Ngo, Marika Rudler, Pascal Lebray, Raluca Pais, Luminita Bonyhay, Frederic Charlotte, Vincent Thibault, Laetitia Fartoux, Olivier Lucidarme, Daniel Eyraud, Olivier Scatton, Eric Savier, Marc Antoine Valantin, An Ngo, Fabienne Drane, Olivier Rosmorduc, Françoise Imbert‐Bismut, Chantal Housset, Dominique Thabut, Vlad Ratziu, the HECAM‐FibroFrance Group

Aliment Pharmacol Ther. 2019;49(3):308-20 Background : No blood test has been shown to be effective in the prediction of primary liver cancer in patients without cirrhosis. AIM: To...
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May 03 - 2018

The IGF2/IR/IGF1R Pathway in Tumor Cells and Myofibroblasts Mediates Resistance to EGFR Inhibition in Cholangiocarcinoma (Équipe Housset) Javier Vaquero, Cindy Lobe, Sylvana Tahraoui, Audrey Clapéron, Martine Mergey, Fatiha Merabtene, Dominique Wendum, Cédric Coulouarn, Chantal Housset, Christèle Desbois-Mouthon, Françoise Praz, Laura Fouassier

Clin Cancer Res. 2018;24(17):4282-96 Purpose : Cholangiocarcinoma (CCA) is a desmoplastic tumor of the biliary tree in which epidermal growth factor receptor (EGFR) is overexpressed and...
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COURTIES Alice

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August 10 - 2017

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction (Équipe Netchine) Walid Abi Habib, Frédéric Brioude, Thomas Edouard, James T. Bennett, Anne Lienhardt-Roussie, Frédérique Tixier, Jennifer Salem, Tony Yuen, Salah Azzi, Yves Le Bouc, Madeleine D. Harbison, Irène Netchine

Genet Med. 2018;20(2):250-8 Purpose : Fetal growth is a complex process involving maternal, placental and fetal factors. The etiology of fetal growth retardation remains unknown in many...
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COUVERT Philippe

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January 29 - 2018

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. (Équipe Netchine) F. Brioude, J.M. Kalish, A.Mussa, A.C. Foster, J. Bliek, G. Battista Ferrero, S.E. Boonen, T. Cole, R. Baker, M. Bertoletti, G. Cocchi, C. Coze, M. De Pellegrin, K. Hussain, A. Ibrahim, M.D. Kilby, M. Krajewska-Walasek, C.P. Kratz, E.J. Ladusans, P.Lapunzina, Y.Le Bouc, S.M. Maas, F.Macdonald, K.Õunap, L.Peruzzi, S.Rossignol, S.Russo, C.Shipster, A.Skórka, K. Tatton-Brown, J. Tenorio, C. Tortora, K. Grønskov, I. Netchine, R. C. Hennekam, D. Prawitt, Z. Tümer, T. Eggermann, D.J.G. Mackay, A. Ricc

Nat Rev Endocrinol. 2018;14(4):229-49 Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth,...
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April 11 - 2018

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome (Équipe Netchine) S. Geoffron, W. Abi Habib, S. Chantot-Bastaraud, B. Dubern, V. Steunou, S. Azzi, A. Afenjar, T. Busa, A. Pinheiro Canton, C. Chalouhi, M.-N. Dufourg, B. Esteva, M. Fradin, D. Geneviève, S. Heide, B. Isidor, A. Linglart, F. Morice Picard, C. Naud-Saudreau, I. Oliver Petit, N. Philip, C. Pienkowski, M. Rio, S. Rossignol, M. Tauber, J. Thevenon, T.A. Vu-Hong, M.D. Harbison, J. Salem, F. Brioude, I. Netchine, E. Giabicani

J Clin Endocrinol Metab. 2018;103(7):2436-46 Context : Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2...
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CREUSOT Laura

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August 01 - 2018

Diagnosis and management of postnatal fetal growth restriction (Équipe Netchine) Eloïse Giabicani, Aurélie Pham, Frédéric Brioude, Delphine Mitanchez, Irène Netchine

Best Pract Res Clin Endocrinol Metab. 2018;32(4):523-34 Fetal growth restriction (FGR) can result from multiple causes, such as genetic, epigenetic, environment, hormonal regulation, or...
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December 09 - 2017

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences (Équipe Netchine) Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, Madeleine D Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Eloise Giabicani, Jean-Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

Med Genet. 2018;55(3):205-13 Background : The 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth...
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DA SILVA LIMA Francieton

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February 16 - 2018

The NDPK/NME superfamily: state of the art (Équipe Prunier) Mathieu Boissan, Uwe Schlattner, Marie-Lise Lacombe

Lab Invest. 2018;98(2):164-74 Nucleoside diphosphate kinases (NDPK) are nucleotide metabolism enzymes encoded by NME genes (also called NM23). Given the fact that not all NME-encoded...
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June 18 - 2018

Twist1 activation in muscle progenitor cells causes muscle loss akin to cancer cachexia (Équipe Prunier) Parash Parajuli, Santosh Kumar, Audrey Loumaye, Purba Singh, Sailaja Eragamreddy, Thien Ly Nguyen, Seval Ozkan, Mohammed S. Razzaque, Céline Prunier, Jean-Paul Thissen, Azeddine Atfi

Dev Cell. 2018;45(6):712-25 e6 Cancer cachexia is characterized by extreme skeletal muscle loss that results in high morbidity and mortality. The incidence of cachexia varies among tumor...
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DALISSIER Arnaud

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March 01 - 2018

The extracellular domain of Her2 in serum as a biomarker of breast cancer (Équipe Prunier) Alexandre Perrier, Joseph Gligorov, Guillaume Lefèvre, Mathieu Boissan

Lab Invest. 2018;98(6):696-707 Breast cancer is a major health problem worldwide. In ~15% of breast cancers, the epidermal growth factor receptor HER2, a transmembrane protein, is...
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DANNE Camille

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May 29 - 2018

Modeling of Aniridia-Related Keratopathy by CRISPR/Cas9 Genome Editing of Human Limbal Epithelial Cells and Rescue by Recombinant PAX6 Protein (Équipe Prunier) Lauriane N. Roux, Isabelle Petit, Romain Domart, Jean-Paul Concordet, Jieqiong Qu, Huiqing Zhou, Alain Joliot, Olivier Ferrigno, Daniel Aberdam

Stem Cells. 2018;36(9):1421-9 Heterozygous PAX6 gene mutations leading to haploinsufficiency are the main cause of congenital aniridia, a rare and progressive panocular 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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