Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.

Autor: Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Méjécase C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Michiels C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Wohlschlegel J; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Foussard M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; CHNO des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France., Démontant V; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Emmenegger L; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Schalk A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Neuillé M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Orhan E; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Augustin S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Bonnet C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France.; INSERM, Institut de l'Audition, Institut Pasteur, 75012 Paris, France., Estivalet A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France.; INSERM, Institut de l'Audition, Institut Pasteur, 75012 Paris, France., Blond F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Blanchard S; IntegraGen SA, Genopole, Campus, 91000 Evry, France., Andrieu C; CHNO des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France., Chantot-Bastaraud S; APHP, Hôpital Armand-Trousseau, Département de Génétique, UF de Génétique Chromosomique, 75012 Paris, France., Léveillard T; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France., Mohand-Saïd S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; CHNO des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France., Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; CHNO des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France.; Academie des Sciences, Institut de France, 75006 Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 75012 Paris, France.; CHNO des Quinze-Vingts, INSERM-DHOS CIC 1423, 75012 Paris, France.; Institute of Ophthalmology, University College of London, London EC1V 9EL, UK.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 23; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 23.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Autor: Zeitz C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Michiels C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Neuillé M; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Friedburg C; Department of Ophthalmology, Justus-Liebig-University Giessen, Germany., Condroyer C; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Boyard F; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Antonio A; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France., Bouzidi N; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Milicevic D; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Veaux R; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Tourville A; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Zoumba A; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Seneina I; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Foussard M; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France., Andrieu C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France., N Preising M; Department of Ophthalmology, Justus-Liebig-University Giessen, Germany., Blanchard S; IntegraGen SA, Genopole Campus, Evry, France., Saraiva JP; IntegraGen SA, Genopole Campus, Evry, France., Mesrob L; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; INSERM, Sorbonne Université, Paris, France., Le Floch E; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Jubin C; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Meyer V; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Blanché H; Fondation Jean Dausset-CEPH (Centre d'Etude du Polymorphisme Humain), Paris, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France.; Fondation Jean Dausset-CEPH (Centre d'Etude du Polymorphisme Humain), Paris, France., Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Drumare I; Service d'Exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France., Defoort-Dhellemmes S; Service d'Exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France., De Baere E; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Leroy BP; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Zanlonghi X; Clinique Jules Verne, Centre de Compétence Maladies Rares, Nantes, France., Casteels I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium., de Ravel TJ; Centre for Human Genetics, University Hospitals Leuven, Belgium., Balikova I; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.; Department of Ophthalmology, Queen Fabiola Children's University Hospital, Brussels, Belgium., Koenekoop RK; Departments of Ophthalmology, Human Genetics, and Pediatric Surgery, Montreal Children's Hospital, McGill University Health Centre, McGill University, Montreal, Quebec, Canada., Laffargue F; Service de Génétique, CHU Clermont-Ferrand, France., McLean R; Department of Neuroscience, Psychology and Behaviour, Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom., Gottlob I; Department of Neuroscience, Psychology and Behaviour, Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom., Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.; Mitovasc, UMR CNRS 6015-INSERM 1083, Université d'Angers, France., Schorderet DF; Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.; IRO-Institute for Research in Ophthalmology, Sion, Switzerland.; Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., L Munier F; Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., McKibbin M; Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom., Prescott K; Department of Clinical Genetics, Leeds, United Kingdom., Pelletier V; Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil, Strasbourg, France.; Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France., Dollfus H; Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil, Strasbourg, France.; Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France.; Laboratoire de Génétique Médicale, INSERM U1112, Strasbourg, France., Perdomo-Trujillo Y; Centre de référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Civil, Strasbourg, France., Faure C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Hôpital Privé Saint Martin, Ramsay Générale de Santé, Caen, France., Reiff C; Medical Practice Stadttheater, Freiburg, Germany., Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Meunier I; Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, Montpellier, France.; Institute for Neurosciences of Montpellier, Montpellier University and INSERM U1051, Montpellier, France., Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Zrenner E; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany., Jurklies B; Department of Ophthalmology, University of Essen, Essen, Germany., Lorenz B; Department of Ophthalmology, Justus-Liebig-University Giessen, Germany., Sahel JA; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.; Academie des Sciences, Institut de France, Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Audo I; INSERM, CNRS, Institut de la Vision, Sorbonne Université, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Institute of Ophthalmology, University College of London, London, United Kingdom.

Publikováno v: Human mutation [Hum Mutat] 2019 Jun; Vol. 40 (6), pp. 765-787. Date of Electronic Publication: 2019 Mar 28.

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy.

Autor: Méjécase C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Hummel A; Department of Nephrology, Necker-Enfants Malades Hospital, Paris, France., Mohand-Saïd S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France., Andrieu C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France., El Shamieh S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon., Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France., Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Boyard F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Foussard M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Blanchard S; IntegraGen SA, Evry, France., Letexier M; IntegraGen SA, Evry, France., Saraiva JP; IntegraGen SA, Evry, France., Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Institute of Ophthalmology, University College of London, London, UK.; Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.; Académie des Sciences, Institut de France, Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburg, Pennsylvania, USA., Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.; Institute of Ophthalmology, University College of London, London, UK.

Publikováno v: Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 329-333. Date of Electronic Publication: 2018 Nov 04.

Regulation of the expression of nitrogen fixation genes during symbiosis between alfalfa and Rhizobium meliloti: developmental and metabolic signals

Autor: Soupène, E., Foussard, M., Batut, Jacques, Truchet, G., Boistard, P.

Publikováno v: 2. Symposium franco-Thailandais sur la Biologie moléculaire des plantes
2. Symposium franco-Thailandais sur la Biologie moléculaire des plantes, Oct 1996, Bordeaux, France

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bb09f781e1613258a499c163bd2123a4
https://hal.inrae.fr/hal-02768066

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