HuR-Dependent Editing of a New Mineralocorticoid Receptor Splice Variant Reveals an Osmoregulatory Loop for Sodium Homeostasis

by Ingrid Lema, Larbi Amazit, Khadija Lamribet, Jérôme Fagart, Anne Blanchard, Marc Lombès, Nadia Cherradi, Say Viengchareun
Published 2017-07-01

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a nov...

by Frédéric Brioude, Jérôme Bouligand, Bruno Francou, Jérôme Fagart, Ronan Roussel, Say Viengchareun, Laurent Combettes, Sylvie Brailly-Tabard, Marc Lombès, Jacques Young, Anne Guiochon-Mantel
Published 2013-01-01

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

by Bruno Francou, Jérôme Bouligand, Adela Voican, Larbi Amazit, Séverine Trabado, Jérôme Fagart, Geri Meduri, Sylvie Brailly-Tabard, Philippe Chanson, Pierre Lecomte, Anne Guiochon-Mantel, Jacques Young
Published 2011-01-01