Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue

by Marlène Le Tertre, Ahmad Elbahnsi, Chandran Ka, Isabelle Callebaut, Gérald Le Gac
Published 2021-06-01

HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype

by Gérald Le Gac, Chandran Ka, Isabelle Gourlaouen, Laurence Bryckaert, Anne-Yvonne Mercier, Brigitte Chanu, Virginie Scotet, Claude Férec
Published 2009-01-01

A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

by Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
Published 2020-09-01

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

by Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, Gaia Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert-Desurmont, Angelina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castera, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet-Dorion, Nicolas Sevenet, Marine Guillaud-Bataille, Nadia Boutry-Kryza, Inès Schultz, Virginie Caux-Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger
Published 2020-01-01