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A Gene Expression and Pre-mRNA Splicing Signature That Marks the Adenoma-Adenocarcinoma Progression in Colorectal Cancer
Author / Creator:Pesson, Marine ; Volant, Alain ; Uguen, Arnaud ; Trillet, Kilian ; De La Grange, Pierre ; Aubry, Marc ; Daoulas, Mélanie ; Robaszkiewicz, Michel ; Le Gac, Gérald ; Morel, Alain ; Simon, Brigitte ; Corcos, Laurent
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-02, Vol.9 (2), p.e87761-e87761
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A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
Author / Creator:Rodríguez‐Palmero, Agustí ; Schlüter, Agatha ; Verdura, Edgard ; Ruiz, Montserrat ; Martínez, Juan José ; Gourlaouen, Isabelle ; Ka, Chandran ; Lobato, Ricardo ; Casasnovas, Carlos ; Le Gac, Gérald ; Fourcade, Stéphane ; Pujol, Aurora
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-09, Vol.7 (9), p.1574-1579
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Evidence for the High Importance of Co-Morbid Factors in HFE C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study
Author / Creator:Saliou, Philippe ; Le Gac, Gérald ; Mercier, Anne-Yvonne ; Chanu, Brigitte ; Guéguen, Paul ; Mérour, Marie-Christine ; Gourlaouen, Isabelle ; Autret, Sandrine ; Le Maréchal, Cédric ; Rouault, Karen ; Nousbaum, Jean-Baptiste ; Férec, Claude ; Scotet, Virginie
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-12, Vol.8 (12), p.e81128
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Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue
Author / Creator:Le Tertre, Marlène ; Elbahnsi, Ahmad ; Ka, Chandran ; Callebaut, Isabelle ; Le Gac, Gérald
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2021-06, Vol.22 (12), p.6412
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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
Author / Creator:Leman, Raphaël ; Tubeuf, Hélène ; Raad, Sabine ; Tournier, Isabelle ; Derambure, Céline ; Lanos, Raphaël ; Gaildrat, Pascaline ; Castelain, Gaia ; Hauchard, Julie ; Killian, Audrey ; Baert-Desurmont, Stéphanie ; Legros, Angelina ; Goardon, Nicolas ; Quesnelle, Céline ; Ricou, Agathe ; Castera, Laurent ; Vaur, Dominique ; Le Gac, Gérald ; Ka, Chandran ; Fichou, Yann ; Bonnet-Dorion, Françoise ; Sevenet, Nicolas ; Guillaud-Bataille, Marine ; Boutry-Kryza, Nadia ; Schultz, Inès ; Caux-Moncoutier, Virginie ; Rossing, Maria ; Walker, Logan C. ; Spurdle, Amanda B. ; Houdayer, Claude ; Martins, Alexandra ; Krieger, Sophie
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2020-01, Vol.21 (1), p.86-86, Article 86
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Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer
Author / Creator:Quéré, Gilles ; Descourt, Renaud ; Robinet, Gilles ; Autret, Sandrine ; Raguenes, Odile ; Fercot, Brigitte ; Alemany, Pierre ; Uguen, Arnaud ; Férec, Claude ; Quintin-Roué, Isabelle ; Le Gac, Gérald
Publisher:England: BioMed Central Ltd
Journal title:BMC cancer, 2016-03, Vol.16 (1), p.210-210, Article 210
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HFE-Related Hemochromatosis : The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype
Author / Creator:Férec, Claude ; Chanu, Brigitte ; Mercier, Anne-Yvonne ; Scotet, Virginie ; Bryckaert, Laurence ; Gourlaouen, Isabelle ; Le Gac, Gérald ; Ka, Chandran
Publisher:Cairo, Egypt: Hindawi Puplishing Corporation
Journal title:Advances in hematology, 2009, Vol.2009 (2009), p.1-6
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The molecular genetics of haemochromatosis
Author / Creator:Le Gac, Gérald ; Férec, Claude
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2005-11, Vol.13 (11), p.1172-1185
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Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression
Author / Creator:Ramsay, LeeAnn ; Quillé, Marie‐Lise ; Orset, Cyrille ; Grange, Pierre ; Rousselet, Estelle ; Férec, Claude ; Le Gac, Gérald ; Génin, Emmanuelle ; Timsit, Serge
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1681-1695
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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Author / Creator:Martinez, Guillaume ; Beurois, Julie ; Dacheux, Denis ; Cazin, Caroline ; Bidart, Marie ; Kherraf, Zine-Eddine ; Robinson, Derrick R ; Satre, Véronique ; Le Gac, Gerald ; Ka, Chandran ; Gourlaouen, Isabelle ; Fichou, Yann ; Petre, Graciane ; Dulioust, Emmanuel ; Zouari, Raoudha ; Thierry-Mieg, Nicolas ; Touré, Aminata ; Arnoult, Christophe ; Bonhivers, Mélanie ; Ray, Pierre ; Coutton, Charles
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-10, Vol.57 (10), p.708-716
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The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)
Author / Creator:Uguen, Kevin ; Ka, Chandran ; Collod-Béroud, Gwenaelle ; Le Tertre, Marlène ; Guellec, Julie ; Férec, Claude ; Béroud, Christophe ; Callebaut, Isabelle ; Le Gac, Gérald
Publisher:United States: Hindawi
Journal title:Human mutation, 2023-06, Vol.2023, p.1-22
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Expanding ACMG variant classification guidelines into a general framework
Author / Creator:Masson, Emmanuelle ; Zou, Wen-Bin ; Génin, Emmanuelle ; Cooper, David N. ; Le Gac, Gerald ; Fichou, Yann ; Pu, Na ; Rebours, Vinciane ; Férec, Claude ; Liao, Zhuan ; Chen, Jian-Min
Publisher:London: BioMed Central
Journal title:Human genomics, 2022-08, Vol.16 (1), p.1-31, Article 31
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The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein
Author / Creator:Ka, Chandran ; Le Gac, Gérald ; Dupradeau, Francois-Yves ; Rochette, Jacques ; Férec, Claude
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2005-09, Vol.117 (5), p.467-475
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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Author / Creator:Wu, Hao ; Lin, Jin-Huan ; Tang, Xin-Ying ; Marenne, Gaëlle ; Zou, Wen-Bin ; Schutz, Sacha ; Masson, Emmanuelle ; Génin, Emmanuelle ; Fichou, Yann ; Le Gac, Gerald ; Férec, Claude ; Liao, Zhuan ; Chen, Jian-Min
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-02, Vol.18 (1), p.21-23, Article 21
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Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease
Author / Creator:Rim Debbiche ; Elbahnsi, Ahmad ; Uguen, Kevin ; Chandran Ka ; Callebaut, Isabelle ; Gerald Le Gac
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2024-02
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Cholesterol modulates the human FPN1 iron export function in plasma membrane liquid-ordered microdomains
Author / Creator:Rim Debbiche ; Chandran Ka ; Gourlaouen, Isabelle ; Maestri, Sandrine ; Uguen, Kevin ; Paul-Alain Jaffres ; Callebaut, Isabelle ; Gerald Le Gac
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2023-12
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Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study
Author / Creator:Scotet, Virginie ; Saliou, Philippe ; Uguen, Marianne ; L’Hostis, Carine ; Merour, Marie-Christine ; Triponey, Céline ; Chanu, Brigitte ; Nousbaum, Jean-Baptiste ; Le Gac, Gerald ; Ferec, Claude
Publisher:England: BioMed Central
Journal title:BMC pregnancy and childbirth, 2018-02, Vol.18 (1), p.53-53, Article 53
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HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients
Author / Creator:Saliou, Philippe ; Le Gac, Gérald ; Mérour, Marie-Christine ; Tripogney, Céline ; Chanu, Brigitte ; Gourlaouen, Isabelle ; Nousbaum, Jean-Baptiste ; Férec, Claude ; Scotet, Virginie
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Annals of hematology, 2015-07, Vol.94 (7), p.1225-1227
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Interlaboratory Development and Validation of a HRM Method Applied to the Detection of JAK2 Exon 12 Mutations in Polycythemia Vera Patients
Author / Creator:Ugo, Valerie ; Tondeur, Sylvie ; Menot, Marie-Laurence ; Bonnin, Nadine ; Le Gac, Gerald ; Tonetti, Carole ; Mas, Veronique Mansat-De ; Lecucq, Lydie ; Kiladjian, Jean-Jacques ; Chomienne, Christine ; Dosquet, Christine ; Parquet, Nathalie ; Darnige, Luc ; Porneuf, Marc ; Escoffre-Barbe, Martine ; Giraudier, Stephane ; Delabesse, Eric ; Cassinat, Bruno
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-01, Vol.5 (1), p.e8893-e8893
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ArticlesPeer ReviewedFull Text
Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs
Author / Creator:Mura, Catherine ; Le Gac, Gérald ; Scotet, Virginie ; Raguenes, Odile ; Mercier, Anne-Yvonne ; Férec, Claude
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2001-09, Vol.38 (9), p.632-636
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Showing 1 to 20 of 23 results

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A Gene Expression and Pre-mRNA Splicing Signature That Marks the Adenoma-Adenocarcinoma Progression in Colorectal Cancer

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

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Evidence for the High Importance of Co-Morbid Factors in HFE C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study

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

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

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Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer

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

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The molecular genetics of haemochromatosis

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Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

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Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

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The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

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Expanding ACMG variant classification guidelines into a general framework

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The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein

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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

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Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin disease

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Cholesterol modulates the human FPN1 iron export function in plasma membrane liquid-ordered microdomains

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

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HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients

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Interlaboratory Development and Validation of a HRM Method Applied to the Detection of JAK2 Exon 12 Mutations in Polycythemia Vera Patients

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Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs

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