Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia
Alaa El Din, Ferdos, Patri, Sylvie, Thoreau, Vincent, Rodriguez-Ballesteros, Montserrat, Hamade, Eva, Bailly, Sabine, Gilbert-Dussardier, Brigitte, Abou Merhi, Raghida, Kitzis, Alain
Published in PloS one (15.07.2015)
Published in PloS one (15.07.2015)
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Involvement of the Cdc42 pathway in CFTR post-translational turnover and in its plasma membrane stability in airway epithelial cells
Ferru-Clément, Romain, Fresquet, Fleur, Norez, Caroline, Métayé, Thierry, Becq, Frédéric, Kitzis, Alain, Thoreau, Vincent
Published in PloS one (13.03.2015)
Published in PloS one (13.03.2015)
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Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
Brajadenta, Gara Samara, Sari, Ariestya Indah Permata, Nauphar, Donny, Pratamawati, Tiar Masykuroh, Thoreau, Vincent
Published in Journal of medical case reports (07.08.2019)
Published in Journal of medical case reports (07.08.2019)
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Fine Tuning of Calcium Constitutive Entry by Optogenetically-Controlled Membrane Polarization: Impact on Cell Migration
Chapotte-Baldacci, Charles-Albert, Lizot, Guénaëlle, Jajkiewicz, Cyrielle, Lévêque, Manuella, Penna, Aubin, Magaud, Christophe, Thoreau, Vincent, Bois, Patrick, Sebille, Stéphane, Chatelier, Aurélien
Published in Cells (Basel, Switzerland) (13.07.2020)
Published in Cells (Basel, Switzerland) (13.07.2020)
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Identification of a Novel CHD7 Mutation in a CHARGE Syndrome Patient in Indonesia
Brajadenta, Gara Samara, Utari, Agustini, Patri, Sylvie, Bilan, Frédéric, Faradz, Sultana Muhammad Hussein, Kitzis, Alain, Thoreau, Vincent
Published in Annals of laboratory medicine (01.09.2019)
Published in Annals of laboratory medicine (01.09.2019)
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Transient receptor potential vanilloid 1 (TRPV1) channels in cultured rat Sertoli cells regulate an acid sensing chloride channel
Auzanneau, Céline, Norez, Caroline, Antigny, Fabrice, Thoreau, Vincent, Jougla, Chantal, Cantereau, Anne, Becq, Frédéric, Vandebrouck, Clarisse
Published in Biochemical pharmacology (15.01.2008)
Published in Biochemical pharmacology (15.01.2008)
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The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein
Melin, Patricia, Thoreau, Vincent, Norez, Caroline, Bilan, Frédéric, Kitzis, Alain, Becq, Frédéric
Published in Biochemical pharmacology (15.06.2004)
Published in Biochemical pharmacology (15.06.2004)
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Mini-dystrophin expression down-regulates overactivation of G protein-mediated IP3 signaling pathway in dystrophin-deficient muscle cells
Balghi, Haouaria, Sebille, Stéphane, Constantin, Bruno, Patri, Sylvie, Thoreau, Vincent, Mondin, Ludivine, Mok, Elise, Kitzis, Alain, Raymond, Guy, Cognard, Christian
Published in The Journal of general physiology (01.02.2006)
Published in The Journal of general physiology (01.02.2006)
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Journal Article
Physiologically-based pharmacokinetic models to predict drug exposure during pregnancy
Ait-Chikh, Celia, Page, Guylène, Thoreau, Vincent
Published in Annales pharmaceutiques françaises (01.03.2024)
Published in Annales pharmaceutiques françaises (01.03.2024)
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Journal Article
Relationships between Gut Microbiota and Autism Spectrum Disorders: Development and Treatment
Poupard, Lisa, Page, Guylène, Thoreau, Vincent, Kaouah, Zahyra
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (25.07.2024)
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (25.07.2024)
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Brain tumours: Non-invasive techniques to treat invasive pathologies
Barbotin, Mathis, Thoreau, Vincent, Page, Guylène
Published in Annales pharmaceutiques françaises (01.03.2024)
Published in Annales pharmaceutiques françaises (01.03.2024)
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Journal Article
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients
Brajadenta, Gara Samara, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Kitzis, Alain, Thoreau, Vincent
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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Journal Article
CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
Claustres, Mireille, Thèze, Corinne, des Georges, Marie, Baux, David, Girodon, Emmanuelle, Bienvenu, Thierry, Audrezet, Marie‐Pierre, Dugueperoux, Ingrid, Férec, Claude, Lalau, Guy, Pagin, Adrien, Kitzis, Alain, Thoreau, Vincent, Gaston, Véronique, Bieth, Eric, Malinge, Marie‐Claire, Reboul, Marie‐Pierre, Fergelot, Patricia, Lemonnier, Lydie, Mekki, Chadia, Fanen, Pascale, Bergougnoux, Anne, Sasorith, Souphatta, Raynal, Caroline, Bareil, Corinne
Published in Human mutation (01.10.2017)
Published in Human mutation (01.10.2017)
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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
Bergougnoux, A., Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M.-L., Thoreau, Vincent, Sasorith, S., Bareil, C., Thèze, C., Ferec, C., Gac, G. Le, 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., Becq, F., Fanen, P., Mekki, C., Audrezet, M.-P., Girodon, E., Raynal, C.
Published in Journal of cystic fibrosis (01.05.2023)
Published in Journal of cystic fibrosis (01.05.2023)
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Journal Article
Involvement of the Cdc42 Pathway in CFTR Post-Translational Turnover and in Its Plasma Membrane Stability in Airway Epithelial Cells
Ferru-Clément, Romain, Fresquet, Fleur, Norez, Caroline, Métayé, Thierry, Becq, Frédéric, Kitzis, Alain, Thoreau, Vincent
Published in PloS one (13.03.2015)
Published in PloS one (13.03.2015)
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Journal Article
Involvement of the Cdc42 Pathway in CFTR Post-Translational Turnover and in Its Plasma Membrane Stability in Airway Epithelial Cells
Ferru-Clément, Romain, Fresquet, Fleur, Norez, Caroline, Métayé, Thierry, Becq, Frédéric, Kitzis, Alain, Thoreau, Vincent
Published in PloS one (13.03.2015)
Published in PloS one (13.03.2015)
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Journal Article
CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
Claustres, Mireille, Thèze, Corinne, Des Georges, Marie, Baux, David, Girodon, Emmanuelle, Bienvenu, Thierry, Audrezet, Marie-Pierre, Dugueperoux, Ingrid, Férec, Claude, Lalau, Guy, Pagin, Adrien, Kitzis, Alain, Thoreau, Vincent, Gaston, Véronique, Bieth, Eric, Malinge, Marie-Claire, Reboul, Marie-Pierre, Fergelot, Patricia, Lemonnier, Lydie, Mekki, Chadia, Fanen, Pascale, Bergougnoux, Anne, Sasorith, Souphatta, Raynal, Caroline, Bareil, Corinne
Published in Human mutation (28.10.2017)
Published in Human mutation (28.10.2017)
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Journal Article
Fine Tuning of Calcium Constitutive Entry by Optogenetically-Controlled Membrane Polarization: Impact on Cell Migration
Chapotte-Baldacci, Charles-Albert, Lizot, Guénaëlle, Jajkiewicz, Cyrielle, Lévêque, Manuella, Penna, Aubin, Magaud, Christophe, Thoreau, Vincent, Bois, P., Sebille, Stéphane, Chatelier, Aurelien
Published in Cells (Basel, Switzerland) (13.07.2020)
Published in Cells (Basel, Switzerland) (13.07.2020)
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Journal Article
Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells
Bilan, Frédéric, Nacfer, Magali, Fresquet, Fleur, Norez, Caroline, Melin, Patricia, Martin-Berge, Alice, Costa de Beauregard, Marie-Alyette, Becq, Frédéric, Kitzis, Alain, Thoreau, Vincent
Published in Experimental cell research (01.07.2008)
Published in Experimental cell research (01.07.2008)
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