未登录TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia
Vanden Abeele, Fabien; Lotteau, Sabine; Ducreux, Sylvie; Dubois, Charlotte; Monnier, Nicole; Hanna, Amy; Gkika, Dimitra; Romestaing, Caroline; Noyer, Lucile; Flourakis, Matthieu; Tessier, Nolwenn; Al-Mawla, Ribal; Chouabe, Christophe; Lefai, Etienne; Lunardi, Joel; Hamilton, Susan; Faure, Julien; Van Coppenolle, Fabien; Prevarskaya, Natalia .png)
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收藏Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe SyndromeRendu, John; Montjean, Rodrick; Coutton, Charles; Suri, Mohnish; Chicanne, Gaetan; Petiot, Anne; Brocard, Julie; Grunwald, Didier; Rouxel, France Pietri; Payrastre, Bernard; Lunardi, Joel; Dorseuil, Olivier; Marty, Isabelle; Faure, Julien 分享 收藏 Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture testRoux-Buisson, N.; Monnier, N.; Sagui, E.; Abriat, A.; Brosset, C.; Bendahan, D.; Kozak-Ribbens, G.; Gazzola, S.; Quesada, J. -L.; Foutrier-Morello, C.; Rendu, J.; Figarella-Branger, D.; Cozonne, P.; Aubert, M.; Bourdon, L.; Lunardi, J.; Faure, J. 分享 收藏 Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening致心律失常性右室心肌病/发育不良中罕见RYR2变异的患病率和意义: 系统筛查结果Roux-Buisson, Nathalie; Gandjbakhch, Estelle; Donal, Erwan; Probst, Vincent; Deharo, Jean-Claude; Chevalier, Philippe; Klug, Didier; Mansencal, Nicolas; Delacretaz, Etienne; Cosnay, Pierre; Scanu, Patrice; Extramiana, Fabrice; Keller, Dagmar; Hidden-Lucet, Franoise; Trapani, Jonathan; Fouret, Pierre; Frank, Robert; Fressart, Veronique; Faure, Julien; Lunardi, Joel; Charron, Philippe 分享 收藏 OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cellsMontjean, Rodrick; Aoidi, Rifdat; Desbois, Pierrette; Rucci, Julien; Trichet, Michael; Salomon, Remi; Rendu, John; Faure, Julien; Lunardi, Joel; Gacon, Gerard; Billuart, Pierre; Dorseuil, Olivier 分享 收藏 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsLaquerriere, Annie; Maluenda, Jerome; Camus, Adrien; Fontenas, Laura; Dieterich, Klaus; Nolent, Flora; Zhou, Jie; Monnier, Nicole; Latour, Philippe; Gentil, Damien; Heron, Delphine; Desguerres, Isabelle; Landrieu, Pierre; Beneteau, Claire; Delaporte, Benoit; Bellesme, Celine; Baumann, Clarisse; Capri, Yline; Goldenberg, Alice; Lyonnet, Stanislas; Bonneau, Dominique; Estournet, Brigitte; Quijano-Roy, Susana; Francannet, Christine; Odent, Sylvie; Saint-Frison, Marie-Helene; Sigaudy, Sabine; Figarella-Branger, Dominique; Gelot, Antoinette; Mussini, Jean-Marie; Lacroix, Catherine; Drouin-Garraud, Valerie; Malinge, Marie-Claire; Attie-Bitach, Tania; Bessieres, Bettina; Bonniere, Maryse; Encha-Razavi, Ferechte; Beaufrere, Anne-Marie; Khung-Savatovsky, Suonary; Perez, Marie Jose; Vasiljevic, Alexandre; Mercier, Sandra; Roume, Joelle; Trestard, Laetitia; Saugier-Veber, Pascale; Cordier, Marie-Pierre; Layet, Valerie; Legendre, Marine; Vigouroux-Castera, Adeline; Lunardi, Joel; Bayes, Monica; Jouk, Pierre S.; Rigonnot, Luc; Granier, Michele; Sternberg, Damien; Warszawski, Josiane; Gut, Ivo; Gonzales, Marie; Tawk, Marcel; Melki, Judith 分享 收藏 Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General PopulationCoutton, Charles; Abada, Farid; Karaouzene, Thomas; Sanlaville, Damien; Satre, Veronique; Lunardi, Joel; Jouk, Pierre-Simon; Arnoult, Christophe; Thierry-Mieg, Nicolas; Ray, Pierre F. 分享 收藏 分享 收藏 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisDieterich, Klaus; Quijano-Roy, Susana; Monnier, Nicole; Zhou, Jie; Faure, Julien; Smirnow, Daniela Avila; Carlier, Robert; Laroche, Cecile; Marcorelles, Pascale; Mercier, Sandra; Megarbane, Andre; Odent, Sylvie; Romero, Norma; Sternberg, Damien; Marty, Isabelle; Estournet, Brigitte; Jouk, Pierre-Simon; Melki, Judith; Lunardi, Joel 分享 收藏 Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermiaBen Khelifa, Mariem; Coutton, Charles; Blum, Michael G. B.; Abada, Farid; Harbuz, Radu; Zouari, Raoudha; Guichet, Agnes; May-Panloup, Pascale; Mitchell, Valerie; Rollet, Jacques; Triki, Chema; Merdassi, Ghaya; Vialard, Francois; Koscinski, Isabelle; Viville, Stephane; Keskes, Leila; Soulie, Jean Pierre; Rives, Nathalie; Dorphin, Beatrice; Lestrade, Florence; Hesters, Laeticia; Poirot, Catherine; Benzacken, Brigitte; Jouk, Pierre-Simon; Satre, Veronique; Hennebicq, Sylviane; Arnoult, Christophe; Lunardi, Joel; Ray, Pierre F. 分享 收藏 分享 收藏 MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermiaCoutton, Charles; Zouari, Raoudha; Abada, Farid; Ben Khelifa, Mariem; Merdassi, Ghaya; Triki, Chema; Escalier, Denise; Hesters, Laetitia; Mitchell, Valerie; Levy, Rachel; Sermondade, Nathalie; Boitrelle, Florence; Vialard, Francois; Satre, Veronique; Hennebicq, Sylviane; Jouk, Pierre-Simon; Arnoult, Christophe; Lunardi, Joel; Ray, Pierre F. 分享 收藏 Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in humanRoux-Buisson, Nathalie; Cacheux, Marine; Fourest-Lieuvin, Anne; Fauconnier, Jeremy; Brocard, Julie; Denjoy, Isabelle; Durand, Philippe; Guicheney, Pascale; Kyndt, Florence; Leenhardt, Antoine; Le Marec, Herve; Lucet, Vincent; Mabo, Philippe; Probst, Vincent; Monnier, Nicole; Ray, Pierre F.; Santoni, Elodie; Tremeaux, Pauline; Lacampagne, Alain; Faure, Julien; Lunardi, Joel; Marty, Isabelle 分享 收藏 Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathyDowling, James J.; Arbogast, Sandrine; Hur, Junguk; Nelson, Darcee D.; McEvoy, Anna; Waugh, Trent; Marty, Isabelle; Lunardi, Joel; Brooks, Susan V.; Kuwada, John Y.; Ferreiro, Ana 分享 收藏 分享 收藏 Identification of the First Mutations in the Human Triadin Gene, Associated to Catecholaminergic Tachycardia, a Pathology of the Cardiac Calcium Release ComplexRoux-Buisson, Nathalie; Cacheux, Marine; Fourest-Lieuvin, Anne; Fauconnier, Jeremy; Brocard, Julie; Lacampagne, Alain; Faure, Julien; Lunardi, Joel; Marty, Isabelle 分享 收藏 Functional Analysis Reveals Splicing Mutations of the CASQ2 Gene in Patients with CPVT: Implication for Genetic Counselling and Clinical ManagementRoux-Buisson, Nathalie; Rendu, John; Denjoy, Isabelle; Guicheney, Pascale; Goldenberg, Alice; David, Nadine; Faivre, Laurence; Barthez, Olivier; Danieli, Gian Antonio; Marty, Isabelle; Lunardi, Joel; Faure, Julien 分享 收藏 分享 收藏 From Lowe Syndrome to Dent Disease: Correlations between Mutations of the OCRL1 Gene and Clinical and Biochemical PhenotypesHichri, Haifa; Rendu, John; Monnier, Nicole; Coutton, Charles; Dorseuil, Olivier; Poussou, Rosa Vargas; Baujat, Genevieve; Blanchard, Anne; Nobili, Francois; Ranchin, Bruno; Remesy, Michel; Salomon, Remi; Satre, Veronique; Lunardi, Joel 分享 收藏 A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome FormationHarbuz, Radu; Zouari, Raoudha; Pierre, Virginie; Ben Khelifa, Mariem; Kharouf, Mahmoud; Coutton, Charles; Merdassi, Ghaya; Abada, Farid; Escoffier, Jessica; Nikas, Yorgos; Vialard, Francois; Koscinski, Isabelle; Triki, Chema; Sermondade, Nathalie; Schweitzer, Therese; Zhioua, Amel; Zhioua, Fethi; Latrous, Habib; Halouani, Lazhar; Ouafi, Marrakchi; Makni, Mounir; Jouk, Pierre-Simon; Sele, Bernard; Hennebicq, Sylviane; Satre, Veronique; Viville, Stephane; Arnoult, Christophe; Lunardi, Joel; Ray, Pierre F. 分享 收藏 
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