Search Results - "Faure, Julien"

Gene therapies for RyR1-related myopathies by Marty, Isabelle, Beaufils, Mathilde, Fauré, Julien, Rendu, John

“…Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of…”
Get full text

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human by Coutton, Charles, Vargas, Alexandra S., Amiri-Yekta, Amir, Kherraf, Zine-Eddine, Ben Mustapha, Selima Fourati, Le Tanno, Pauline, Wambergue-Legrand, Clémentine, Karaouzène, Thomas, Martinez, Guillaume, Crouzy, Serge, Daneshipour, Abbas, Hosseini, Seyedeh Hanieh, Mitchell, Valérie, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Deleuze, Jean-François, Boland, Anne, Hennebicq, Sylviane, Satre, Véronique, Jouk, Pierre-Simon, Thierry-Mieg, Nicolas, Conne, Beatrice, Dacheux, Denis, Landrein, Nicolas, Schmitt, Alain, Stouvenel, Laurence, Lorès, Patrick, El Khouri, Elma, Bottari, Serge P., Fauré, Julien, Wolf, Jean-Philippe, Pernet-Gallay, Karin, Escoffier, Jessica, Gourabi, Hamid, Robinson, Derrick R., Nef, Serge, Dulioust, Emmanuel, Zouari, Raoudha, Bonhivers, Mélanie, Touré, Aminata, Arnoult, Christophe, Ray, Pierre F.

“…Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to…”
Get full text

Phospholipase A2 Receptor-Related Membranous Nephropathy and Mannan-Binding Lectin Deficiency by Bally, Stéphane, Debiec, Hanna, Ponard, Denise, Dijoud, Frédérique, Rendu, John, Fauré, Julien, Ronco, Pierre, Dumestre-Perard, Chantal

“…Most patients with idiopathic membranous nephropathy (IMN) have IgG4 autoantibodies against phospholipase A2 receptor (PLA2R). C3 and C5b-9 are found in immune…”
Get full text

Dynamics of triadin, a muscle-specific triad protein, within sarcoplasmic reticulum subdomains by Sébastien, Muriel, Aubin, Perrine, Brocard, Jacques, Brocard, Julie, Marty, Isabelle, Fauré, Julien

“…In skeletal muscle, proteins of the calcium release complex responsible for the excitation-contraction (EC) coupling are exclusively localized in specific…”
Get full text

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human by ROUX-BUISSON, Nathalie, CACHEUX, Marine, LE MAREC, Herve, LUCET, Vincent, MABO, Philippe, PROBST, Vincent, MONNIER, Nicole, RAY, Pierre F, SANTONI, Elodie, TREMEAUX, Pauline, LACAMPAGNE, Alain, FAURE, Julien, FOUREST-LIEUVIN, Anne, LUNARDI, Joël, MARTY, Isabelle, FAUCONNIER, Jeremy, BROCARD, Julie, DENJOY, Isabelle, DURAND, Philippe, GUICHENEY, Pascale, KYNDT, Florence, LEENHARDT, Antoine

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease so far related to mutations in the cardiac ryanodine…”
Get full text

Rocket dust storms and detached dust layers in the Martian atmosphere by Spiga, Aymeric, Faure, Julien, Madeleine, Jean-Baptiste, Määttänen, Anni, Forget, François

“…Airborne dust is the main climatic agent in the Martian environment. Local dust storms play a key role in the dust cycle; yet their life cycle is poorly known…”
Get full text

Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations by Le Tanno, Pauline, Latypova, Xenia, Rendu, John, Fauré, Julien, Bourg, Véronique, Gauthier, Marjolaine, Billy-Lopez, Gipsy, Jouk, Pierre-Simon, Dieterich, Klaus

“…Arthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct…”
Get more information

Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse by Cacheux, Marine, Fauconnier, Jérémy, Thireau, Jérôme, Osseni, Alexis, Brocard, Jacques, Roux-Buisson, Nathalie, Brocard, Julie, Fauré, Julien, Lacampagne, Alain, Marty, Isabelle

“…Recessive forms of catecholaminergic polymorphic ventricular tachycardia (CPVT) are induced by mutations in genes encoding triadin or calsequestrin, two…”
Get full text

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations by BÖHM, Johann, BIANCALANA, Valérie, LAFORET, Pascal, MAISONOBE, Thierry, OLIVE, Montse, GONZALEZ-MERA, Laura, FARDEAU, Michel, CARRIERE, Nathalie, CLAVELOU, Pierre, EYMARD, Bruno, BITOUN, Marc, RENDU, John, MALFATTI, Edoardo, FAURE, Julien, WEIS, Joachim, MANDEL, Jean-Louis, ROMERO, Norma B, LAPORTE, Jocelyn, DONDAINE, Nicolas, KOCH, Catherine, VASLI, Nasim, KRESS, Wolfram, STRITTMATTER, Matthias, TARATUTO, Ana Lia, GONORAZKY, Hernan

“…Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear…”
Get full text

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes by Kherraf, Zine-Eddine, Christou-Kent, Marie, Karaouzene, Thomas, Amiri-Yekta, Amir, Martinez, Guillaume, Vargas, Alexandra S., Lambert, Emeline, Borel, Christelle, Dorphin, Beatrice, Aknin-Seifer, Isabelle, Mitchell, Michael J., Metzler-Guillemain, Catherine, Escoffier, Jessica, Nef, Serge, Grepillat, Mariane, Thierry-Mieg, Nicolas, Satre, Veronique, Bailly, Marc, Boitrelle, Florence, Pernet-Gallay, Karin, Hennebicq, Sylviane, Fauré, Julien, Bottari, Serge P., Coutton, Charles, Ray, Pierre F., Arnoult, Christophe

“…Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome…”
Get full text

A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect by Masingue, Marion, Fauré, Julien, Solé, Guilhem, Stojkovic, Tanya, Léonard-Louis, Sarah

“…•Arthrogryposis and proprioceptive defects suggests a recessive PIEZO2 mutation.•Patients with arthrogryposis should be screened for PIEZO2 mutations.•Dominant…”
Get full text

ALK fusion variants detection by targeted RNA-next generation sequencing and clinical responses to crizotinib in ALK-positive non-small cell lung cancer by McLeer-Florin, Anne, Duruisseaux, Michael, Pinsolle, Julian, Dubourd, Sylvian, Mondet, Julie, Phillips Houlbracq, Mathilde, Magnat, Nelly, Fauré, Julien, Chatagnon, Amandine, de Fraipont, Florence, Giaj Levra, Matteo, Toffart, Anne-Claire, Ferretti, Gilbert, Hainaut, Pierre, Brambilla, Elisabeth, Moro-Sibilot, Denis, Lantuejoul, Sylvie

“…•RNA-seq has a good sensitivity and specificity compared to ALK IHC and FISH.•RNA-seq is particularly useful when ALK IHC and FISH are…”
Get full text

Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells by Osseni, Alexis, Sébastien, Muriel, Sarrault, Oriana, Baudet, Mathieu, Couté, Yohann, Fauré, Julien, Fourest-Lieuvin, Anne, Marty, Isabelle

“…In skeletal muscle, the triad is a structure comprising a transverse (T)-tubule and sarcoplasmic reticulum (SR) cisternae. Triads constitute the basis of…”
Get full text

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy by Géraud, Justine, Dieterich, Klaus, Rendu, John, Uro Coste, Emmanuelle, Dobrzynski, Murielle, Marcorelle, Pascale, Ioos, Christine, Romero, Norma Beatriz, Baudou, Eloise, Brocard, Julie, Coville, Anne-Cécile, Fauré, Julien, Koenig, Michel, Juntas Morales, Raul, Lacène, Emmanuelle, Madelaine, Angéline, Marty, Isabelle, Pegeot, Henri, Theze, Corinne, Siegfried, Aurore, Cossee, Mireille, Cances, Claude

“…Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Using next-generation…”
Get more information

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq by Bakri, Faris Ghalib, Mollin, Michelle, Beaumel, Sylvain, Vigne, Bénédicte, Roux-Buisson, Nathalie, Al-Wahadneh, Adel Mohammed, Alzyoud, Raed Mohammed, Hayajneh, Wail Ahmad, Daoud, Ammar Khaled, Shukair, Mohammed Elian Abu, Karadshe, Mansour Fuad, Sarhan, Mahmoud Mohammad, Al-Ramahi, Jamal Ahmad Wadi, Fauré, Julien, Rendu, John, Stasia, Marie Jose

“…Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused by mutations in one of the six genes ( , and /EROS) encoding the…”
Get full text

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores by Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xavière, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Véronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Töpf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Böhm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Fauré, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Bönnemann, Carsten G.

“…The myosin-directed chaperone UNC-45B is essential for sarcomeric organization and muscle function from Caenorhabditis elegans to humans. The pathological…”
Get full text

Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation by Beaufils, Mathilde, Melka, Margaux, Brocard, Julie, Benoit, Clement, Debbah, Nagi, Mamchaoui, Kamel, Romero, Norma B., Dalmas-Laurent, Anne Frédérique, Quijano-Roy, Susana, Fauré, Julien, Rendu, John, Marty, Isabelle

“…More than 700 pathogenic or probably pathogenic variations have been identified in the RYR1 gene causing various myopathies collectively known as “RYR1-related…”
Get full text

Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene by Marguet, Florent, Rendu, John, Vanhulle, Catherine, Bedat-Millet, Anne-Laure, Brehin, Anne Claire, Fauré, Julien, Laquerrière, Annie

“…•Fingerprint bodies are now recognized as non-specific.•They may be observed alone or with other lesions.•Association with rods has never been reported so…”
Get full text

Endosome-to-cytosol transport of viral nucleocapsids by Gruenberg, J, Le Blanc, Isabelle, Luyet, Pierre-Philippe, Pons, Véronique, Ferguson, Charles, Emans, Neil, Petiot, Anne, Mayran, Nathalie, Demaurex, Nicolas, Fauré, Julien, Sadoul, Rémy, Parton, Robert G

“…During viral infection, fusion of the viral envelope with endosomal membranes and nucleocapsid release were thought to be concomitant events. We show here that…”
Get full text

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome by Le Tanno, Pauline, Folacci, Mathilde, Revilloud, Jean, Faivre, Laurence, Laurent, Gabriel, Pinson, Lucile, Amedro, Pascal, Millat, Gilles, Janin, Alexandre, Vivaudou, Michel, Roux-Buisson, Nathalie, Fauré, Julien

“…Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by…”
Get full text