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

Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays

by Jin-Huan Lin, Jin-Huan Lin, Hao Wu, Hao Wu, Wen-Bin Zou, Wen-Bin Zou, Emmanuelle Masson, Emmanuelle Masson, Yann Fichou, Yann Fichou, Gerald Le Gac, Gerald Le Gac, Gerald Le Gac, David N. Cooper, Claude Férec, Claude Férec, Zhuan Liao, Zhuan Liao, Jian-Min Chen
Published 2021-08-01

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

Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

by LeeAnn Ramsay, Marie‐Lise Quillé, Cyrille Orset, Pierre de laGrange, Estelle Rousselet, Claude Férec, Gérald Le Gac, Emmanuelle Génin, Serge Timsit
Published 2019-09-01

Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study

by Virginie Scotet, Philippe Saliou, Marianne Uguen, Carine L’Hostis, Marie-Christine Merour, Céline Triponey, Brigitte Chanu, Jean-Baptiste Nousbaum, Gerald Le Gac, Claude Ferec
Published 2018-02-01

A gene expression and pre-mRNA splicing signature that marks the adenoma-adenocarcinoma progression in colorectal cancer.

by Marine Pesson, Alain Volant, Arnaud Uguen, Kilian Trillet, Pierre De La Grange, Marc Aubry, Mélanie Daoulas, Michel Robaszkiewicz, Gérald Le Gac, Alain Morel, Brigitte Simon, Laurent Corcos
Published 2014-01-01

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

Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.

by Philippe Saliou, Gérald Le Gac, Anne-Yvonne Mercier, Brigitte Chanu, Paul Guéguen, Marie-Christine Mérour, Isabelle Gourlaouen, Sandrine Autret, Cédric Le Maréchal, Karen Rouault, Jean-Baptiste Nousbaum, Claude Férec, Virginie Scotet
Published 2013-01-01

Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.

by Valerie Ugo, Sylvie Tondeur, Marie-Laurence Menot, Nadine Bonnin, Gerald Le Gac, Carole Tonetti, Veronique Mansat-De Mas, Lydie Lecucq, Jean-Jacques Kiladjian, Christine Chomienne, Christine Dosquet, Nathalie Parquet, Luc Darnige, Marc Porneuf, Martine Escoffre-Barbe, Stephane Giraudier, Eric Delabesse, Bruno Cassinat, French Intergroup of Myeloproliferative disorders
Published 2010-01-01

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