Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
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
Published in Journal of medical genetics (01.10.2020)
Published in Journal of medical genetics (01.10.2020)
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Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype
Raud, Loann, Ka, Chandran, Gourlaouen, Isabelle, Callebaut, Isabelle, Férec, Claude, Le Gac, Gérald, Fichou, Yann
Published in Transfusion (Philadelphia, Pa.) (01.04.2019)
Published in Transfusion (Philadelphia, Pa.) (01.04.2019)
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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Leman, Raphaël, Parfait, Béatrice, Vidaud, Dominique, Girodon, Emmanuelle, Pacot, Laurence, Le Gac, Gérald, Ka, Chandran, Ferec, Claude, Fichou, Yann, Quesnelle, Céline, Aucouturier, Camille, Muller, Etienne, Vaur, Dominique, Castera, Laurent, Boulouard, Flavie, Ricou, Agathe, Tubeuf, Hélène, Soukarieh, Omar, Gaildrat, Pascaline, Riant, Florence, Guillaud‐Bataille, Marine, Caputo, Sandrine M., Caux‐Moncoutier, Virginie, Boutry‐Kryza, Nadia, Bonnet‐Dorion, Françoise, Schultz, Ines, Rossing, Maria, Quenez, Olivier, Goldenberg, Louis, Harter, Valentin, Parsons, Michael T., Spurdle, Amanda B., Frébourg, Thierry, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Published in Nucleic acids research (06.09.2018)
Published in Nucleic acids research (06.09.2018)
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A novel thrombopoietin (THPO) mutation altering mRNA splicing in a case of familial thrombocytosis
Prouzet‐Mauléon, Valérie, Montibus, Bertille, Chauveau, Aurélie, Hautin, Marie, Migeon, Marina, Ka, Chandran, Laharanne, Elodie, Bidet, Audrey, Corcos, Laurent, Lippert, Eric
Published in British journal of haematology (01.07.2020)
Published in British journal of haematology (01.07.2020)
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Journal Article
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
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
Published in BMC genomics (28.01.2020)
Published in BMC genomics (28.01.2020)
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Journal Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression
Raud, Loann, Le Tertre, Marlène, Vigneron, Léonie, Ka, Chandran, Richard, Gaëlle, Callebaut, Isabelle, Chen, Jian‐Min, Férec, Claude, Le Gac, Gérald, Fichou, Yann
Published in Transfusion (Philadelphia, Pa.) (01.08.2021)
Published in Transfusion (Philadelphia, Pa.) (01.08.2021)
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Journal Article
Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue
Le Tertre, Marlène, Elbahnsi, Ahmad, Ka, Chandran, Callebaut, Isabelle, Le Gac, Gérald
Published in International journal of molecular sciences (15.06.2021)
Published in International journal of molecular sciences (15.06.2021)
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Journal Article
First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts
Lin, Jin‐Huan, Tang, Xin‐Ying, Boulling, Arnaud, Zou, Wen‐Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun‐Jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David N., Li, Zhao‐Shen, Férec, Claude, Liao, Zhuan, Chen, Jian‐Min
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Journal Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Couloigner, Loïc, Planes, Marc, Ka, Chandran, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Rouault, Karen, Küry, Sebastien, Peudenier, Sylviane, Autret, Sandrine, Gourlaouen, Isabelle, Bonneau, Dominique, Odent, Sylvie, Bézieau, Stéphane, Gilbert‐Dussardier, Brigitte, Toutain, Annick, Boland, Anne, Deleuze, Jean‐François, Le Marechal, Cédric, Le Gac, Gérald, Ferec, Claude, Uguen, Kevin
Published in Clinical genetics (01.03.2023)
Published in Clinical genetics (01.03.2023)
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Journal Article
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism
Ka, Chandran, Guellec, Julie, Pepermans, Xavier, Kannengiesser, Caroline, Ged, Cécile, Wuyts, Wim, Cassiman, David, de Ledinghen, Victor, Varet, Bruno, de Kerguenec, Caroline, Oudin, Claire, Gourlaouen, Isabelle, Lefebvre, Thibaud, Férec, Claude, Callebaut, Isabelle, Le Gac, Gérald
Published in Haematologica (Roma) (01.11.2018)
Published in Haematologica (Roma) (01.11.2018)
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Journal Article
Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues
Le Gac, Gérald, Ka, Chandran, Joubrel, Rozenn, Gourlaouen, Isabelle, Lehn, Pierre, Mornon, Jean-Paul, Férec, Claude, Callebaut, Isabelle
Published in Human mutation (01.10.2013)
Published in Human mutation (01.10.2013)
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Journal Article
TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1
Flodrops, Marion, Dujardin, Gwendal, Busson, Adeline, Trouvé, Pascal, Ka, Chandran, Simon, Brigitte, Arzur, Danielle, Le Jossic-Corcos, Catherine, Corcos, Laurent
Published in Molecular biology reports (01.04.2020)
Published in Molecular biology reports (01.04.2020)
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Journal Article
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Published in Nucleic acids research (20.02.2020)
Published in Nucleic acids research (20.02.2020)
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Journal Article
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Ganapathi, Mythily, Friocourt, Gaelle, Gueguen, Naig, Friederich, Marisa W., Le Gac, Gerald, Okur, Volkan, Loaëc, Nadège, Ludwig, Thomas, Ka, Chandran, Tanji, Kurenai, Marcorelles, Pascale, Theodorou, Evangelos, Lignelli‐Dipple, Angela, Voisset, Cécile, Walker, Melissa A., Briere, Lauren C., Bourhis, Amélie, Blondel, Marc, LeDuc, Charles, Hagen, Jacob, Cooper, Cathleen, Muraresku, Colleen, Ferec, Claude, Garenne, Armelle, Lelez‐Soquet, Servane, Rogers, Cassandra A., Shen, Yufeng, Strode, Dana K., Bizargity, Peyman, Iglesias, Alejandro, Goldstein, Amy, High, Frances A., Network, Undiagnosed Diseases, Sweetser, David A., Ganetzky, Rebecca, Van Hove, Johan L. K., Procaccio, Vincent, Le Marechal, Cedric, Chung, Wendy K.
Published in Journal of inherited metabolic disease (01.09.2022)
Published in Journal of inherited metabolic disease (01.09.2022)
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Journal Article
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype
Uguen, Kevin, Le Tertre, Marlène, Tchernitchko, Dimitri, Elbahnsi, Ahmad, Maestri, Sandrine, Gourlaouen, Isabelle, Férec, Claude, Ka, Chandran, Callebaut, Isabelle, Le Gac, Gérald
Published in HGG advances (10.10.2024)
Published in HGG advances (10.10.2024)
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The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells
Santinelli, Raphaël, Benz, Nathalie, Guellec, Julie, Quinquis, Fabien, Kocas, Ervin, Thomas, Johan, Montier, Tristan, Ka, Chandran, Luczka-Majérus, Emilie, Sage, Edouard, Férec, Claude, Coraux, Christelle, Trouvé, Pascal
Published in Cells (Basel, Switzerland) (18.01.2024)
Published in Cells (Basel, Switzerland) (18.01.2024)
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A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
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
Published in Annals of clinical and translational neurology (01.09.2020)
Published in Annals of clinical and translational neurology (01.09.2020)
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Journal Article
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
Le Gac, Gérald, Scotet, Virginie, Ka, Chandran, Gourlaouen, Isabelle, Bryckaert, Laurence, Jacolot, Sandrine, Mura, Catherine, Férec, Claude
Published in Human molecular genetics (01.09.2004)
Published in Human molecular genetics (01.09.2004)
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Journal Article
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases
Létocart, Emilie, Le Gac, Gérald, Majore, Silvia, Ka, Chandran, Radio, Francesca C., Gourlaouen, Isabelle, De Bernardo, Carmelilia, Férec, Claude, Grammatico, Paola
Published in British journal of haematology (01.11.2009)
Published in British journal of haematology (01.11.2009)
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