Gaël Nicolas
French Institute of Health and Medical Research
126 Papers
629 Citations
Gaël Nicolas is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 27, co-authored 73 publications. Previous affiliations of Gaël Nicolas include Paris Diderot University & Paris Descartes University.
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Papers
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
Servane de Masfrand,Benjamin Cogné,Mathilde Nizon,Wallid Deb,Alice Goldenberg,François Lecoquierre,Gaël Nicolas,Marie Bournez,Antonio Vitobello,Frédéric Tran Mau-Them,Gwenaël Le Guyader,Frédéric Bilan,Peter Bauer,Christiane Zweier,Juliette Piard,Laurent Pasquier,Stéphane Bézieau,B. Gérard,Laurence Faivre,Pascale Saugier-Veber,Amélie Piton,Bertrand Isidor +21 more
TL;DR: A study of 12 patients with monogenic neurodevelopmental disorders reveals incomplete penetrance of pathogenic variants inherited from asymptomatic parents, challenging the paradigm of complete penetrance in neurodevelopmental disorders.
Regulation of Aldosterone Secretion by Substance P and the NK1 Receptor in Aldosterone-Producing Adenomas
Antoine-Guy Lopez,Céline Duparc,Sylvie Renouf,Margot D'agostino,Kelly De Sousa,Laurence Amar,G. Defortescu,Gilles Manceau,Jean-Christophe Sabourin,Fabio L. Fernandes-Rosa,Maria-Christina Zennaro,Tchao Meatchi,Gaël Nicolas,Estelle Louiset,Hervé Lefebvre +14 more
TL;DR: This study investigates the role of substance P and the NK1 receptor in aldosterone-producing adenomas, a common cause of primary aldosteronism, and finds that substance P stimulates aldosterone secretion in a subset of adenomas through the NK1 receptor.
Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation
Slim Azouzi,Mahmoud Mikdar,Patricia Hermand,Emilie-Fleur Gautier,Virginie Salnot,Alexandra Willemetz,Gaël Nicolas,Cédric Vrignaud,Alexandre Raneri,Patrick Mayeux,Christine Bole-Feysot,Patrick Nitschke,Jean-Pierre Cartron,Yves Colin,Olivier Hermine,Gabriele Jedlitschky,Marc Cloutier,Jessica Constanzo-Yanez,Carole Éthier,Nancy Robitaille,Maryse St-Louis,Caroline Le Van Kim,Thierry Peyrard +22 more
TL;DR: It was shown that loss-of-function mutations in the ABCC4 gene, associated with leukemia outcome, altered the expression of the PEL antigen, which could open a new way toward drug dose adjustment for leukemia treatment.
Chronic hepcidin induction causes hyposideremia and alters the pattern of cellular iron accumulation in hemochromatotic mice.
Lydie Viatte,Gaël Nicolas,Dan-Qing Lou,Myriam Bennoun,Jeanne-Claire Lesbordes-Brion,François Canonne-Hergaux,Kai Schönig,Hermann Bujard,Axel Kahn,Nancy C. Andrews,Sophie Vaulont +10 more
TL;DR: It is demonstrated that induction of chronic hepcidin expression in 2-month-old Hfe-/- mice alters their pattern of cellular iron accumulation, leading to increased iron in tissue macrophages and duodenal cells but less iron in hepatocytes, and it is speculated that this change in iron homeostasis could offer a therapeutic advantage by protecting against damage to parenchymal cells.
Heritable defects in telomere and mitotic function selectively predispose to sarcomas
Mandy L. Ballinger,Swetansu Pattnaik,Piyushkumar A. Mundra,Milita Zaheed,Emma M Rath,Peter Priestley,Jonathan Baber,Nicholas Isambert,Sylvain Causeret,Winette T. A. van der Graaf,Axel Le Cesne,Beatrice Seddon,C. R. Chandrasekar,Joshua D. Schiffman,Andrew S. Brohl,Paul A. James,Jean-Emmanuel Kurtz,Ola Myklebost,Leonardo A. Meza-Zepeda,Hilda A. Pickett,Maya Kansara,Nicola Waddell,Olga Kondrashova,John V. Pearson,Andrew Barbour,Shuai Li,Tuong L. Nguyen,Diane Fatkin,R.M. Graham,Eleni Giannoulatou,Melissa J. Green,Warren Kaplan,Shyamsundar Ravishankar,Joseph Copty,Joseph E. Powell,Edwin Cuppen,Kristel R. van Eijk,Jan H. Veldink,Jin-Hee Ahn,R. Lor Randall,Ian Judson,Emmanuelle Génin,Michelle Haber,Glenn M. Marshall,Murray J. Cairns,David Thomas,Martin H.N. Tattersall,Susan J. Neuhaus,Craig Lewis,Kathy Tucker,Richard Carey-Smith,David Wood,Sandro V. Porceddu,Ian Dickinson,Heather Thorne,Paul James,Isabelle Ray-Coquard,Jean-Yves Blay,Philippe A. Cassier,Florence Duffaud,Nicolas Penel,Nicolas Isambert,Ajay Puri,Rajiv Sarin,Jeong Eun Kim,Iain G. Ward,C Venkatesh Chandrasekar,Rory Rickar,I. Hennig,Joshua S. Schiffman,Audrey Silvestri,Anaiis Zaratzian,Michael Tayao,Kelly Walwyn,Eveline Niedermayr,Denia Mang,Richard J. Clark,Tina Thorpe,Jessica L. MacDonald,Kim Riddell,Jasmine Mar,Vicki Fennelly,Allison Wicht,B Zielony,Emma Galligan,Genna Glavich,Johanna Stoeckert,Lynda Williams,L Djandjgava,I. Buettner,Carla Osinki,Sonya Stephens,Muriel Rogasik,L. Bouclier,Magali Girodet,Amandine Charreton,Yohan Fayet,S. Greco Crasto,Bhanupriya Sandupatla,Ye-Seok Yoon,Noda Je,Liz Thompson,Trent Fowler,B. Johnson,Galina Petrikova,Thomas Hambridge,Angela Hutchins,Diego Bottero,Debra Scanlon,Jo Stokes-Denson,Dominique Campion,Jean-François Dartigues,Jean-François Deleuze,Jean-Charles Lambert,Richard Redon,Thomas Ludwig,Benjamin Grenier-Boley,Sébastien Letort,Pierre Lindenbaum,Vincent Meyer,Olivier Quenez,Christian Dina,Céline Bellenguez,Camille Le Clézio,Joanna Giemza,Stéphanie Chatel,Claude Férec,Hervé Le Marec,Luc Letenneur,Gaël Nicolas,Karen Rouault +130 more
TL;DR: In this paper , the authors performed whole-genome germline sequencing on 1644 sporadic cases and 3205 matched healthy elderly controls, using an extreme phenotype design, a combined rare-variant burden and ontologic analysis identified two sarcoma-specific pathways involved in mitotic and telomere functions.