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收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype
Uguen, Kevin; Le Tertre, Marlne; Tchernitchko, Dimitri; Elbahnsi, Ahmad; Maestri, Sandrine; Gourlaouen, Isabelle; Ferec, Claude; Ka, Chandran; Callebaut, Isabelle; Le Gac, Gerald 分享 收藏 分享 收藏 SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER StressWang, Min-Jun; Wang, Yuan-Chen; Masson, Emmanuelle; Wang, Ya-Hui; Yu, Dong; Qian, Yang-Yang; Tang, Xin-Ying; Deng, Shun-Jiang; Hu, Liang-Hao; Wang, Lei; Wang, Li-Juan; Rebours, Vinciane; Cooper, David N.; Ferec, Claude; Li, Zhao-Shen; Chen, Jian-Min; Zou, Wen-Bin; Liao, Zhuan 分享 收藏 Human genetic structure in Northwest France provides new insights into West European historical demography法国西北部的人类遗传结构为西欧历史人口统计学提供了新的见解Alves, Isabel; Giemza, Joanna; Blum, Michael G. B.; Bernhardsson, Carolina; Chatel, Stephanie; Karakachoff, Matilde; Saint Pierre, Aude; Herzig, Anthony F.; Olaso, Robert; Monteil, Martial; Gallien, Veronique; Cabot, Elodie; Svensson, Emma; Bacq, Delphine; Baron, Estelle; Berthelier, Charlotte; Besse, Celine; Blanche, Helene; Bocher, Ozvan; Boland, Anne; Bonnaud, Stephanie; Charpentier, Eric; Dandine-Roulland, Claire; Ferec, Claude; Fruchet, Christine; Lecointe, Simon; Le Floch, Edith; Ludwig, Thomas E.; Marenne, Gaelle; Meyer, Vincent; Quellery, Elisabeth; Racimo, Fernando; Rouault, Karen; Sandron, Florian; Schott, Jean-Jacques; Velo-Suarez, Lourdes; Violleau, Jade; Willerslev, Eske; Coativy, Yves; Jezequel, Mael; Le Bris, Daniel; Nicolas, Clement; Pailler, Yvan; Goldberg, Marcel; Zins, Marie; Le Marec, Herve; Jakobsson, Mattias; Darlu, Pierre; Genin, Emmanuelle; Deleuze, Jean-Francois; Redon, Richard; Dina, Christian 分享 收藏 De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityTessarech, Marine; Friocourt, Gaelle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Diaz, Rodrigo Munoz; Mignot, Cyril; Keren, Boris; Heron, Benedicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Abou Jamra, Rami; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnes; Bris, Celine; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle 分享 收藏 Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants结合全长基因分析和SpliceAI来解释所有可能的SPINK1编码变体的剪接影响Wu, Hao; Lin, Jin-Huan; Tang, Xin-Ying; Marenne, Gaelle; Zou, Wen-Bin; Schutz, Sacha; Masson, Emmanuelle; Genin, Emmanuelle; Fichou, Yann; Le Gac, Gerald; Ferec, Claude; Liao, Zhuan; Chen, Jian-Min 分享 收藏 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膜结合转录因子位点-1蛋白酶 (MBTP1) 的抑制减轻囊性纤维化细胞中Phe508del-Cystic纤维化跨膜传导调节因子 (CFTR) 缺陷Santinelli, Raphael; Benz, Nathalie; Guellec, Julie; Quinquis, Fabien; Kocas, Ervin; Thomas, Johan; Montier, Tristan; Ka, Chandran; Luczka-Majerus, Emilie; Sage, Edouard; Ferec, Claude; Coraux, Christelle; Trouve, Pascal 分享 收藏 分享 收藏 The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapyBergougnoux, A.; Billet, A.; Ka, C.; Heller, M.; Degrugillier, F.; Vuillaume, M. -L.; Thoreau, V.; Sasorith, S.; Bareil, C.; Theze, C.; Ferec, C.; Le Gac, G.; Bienvenu, T.; Bieth, E.; Gaston, V.; Lalau, G.; Pagin, A.; Malinge, M. -C; Dufernez, F.; Lemonnier, L.; Koenig, M.; Fergelot, P.; Claustres, M.; Taulan-Cadars, M.; Kitzis, A.; Reboul, M. -P.; Reboul, P.; Becq, F.; Fanen, P.; Mekki, C.; Audrezet, M. -P.; Girodon, E.; Raynal, C. 分享 收藏 SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingLeman, Raphael; Parfait, Beatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gerald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Celine; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Helene; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M.; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Francoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T.; Spurdle, Amanda B.; Frebourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie 分享 收藏 Expanding ACMG variant classification guidelines into a general frameworkMasson, Emmanuelle; Zou, Wen-Bin; Genin, Emmanuelle; Cooper, David N.; Le Gac, Gerald; Fichou, Yann; Pu, Na; Rebours, Vinciane; Ferec, Claude; Liao, Zhuan; Chen, Jian-Min 分享 收藏 Prevalence of HFE-related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesectionLe Gac, Gerald; Scotet, Virginie; Gourlaouen, Isabelle; L'Hostis, Carine; Merour, Marie-Christine; Karim, Zoubida; Deugnier, Yves; Bardou-Jacquet, Edouard; Lefebvre, Thibaud; Assari, Suzanne; Ferec, Claude 分享 收藏 Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesisKimmerlin, Quentin; Dupuis, Arnaud; Bodakuntla, Satish; Weber, Claire; Heim, Veronique; Henriot, Veronique; Moog, Sylvie; Eckly, Anita; Gueguen, Paul; Ferec, Claude; Gachet, Christian; Janke, Carsten; Lanza, Francois 分享 收藏 
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