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1. Full Text Genome editing as a treatment for the most prevalent causative genes of autosomal dominant retinitis pigmentosa
by Diakatou, Michalitsa and Manes, Gaël and Bocquet, Beatrice and Meunier, Isabelle and Kalatzis, Vasiliki
International journal of molecular sciences, ISSN 1661-6596, 05/2019, Volume 20, Issue 10, p. 2542
Autosomal dominant retinitis pigmentosa | Inherited retinal dystrophies | AAV vector | Genome-editing | Loss-of-function | Gain-of-function | Photoreceptors | Dominant-negative | CRISPR/Cas | Gene supplementation | Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Phenotypes | Level (quantity) | Disease | Retinitis pigmentosa | Retina | Genomes | Ribonucleic acid--RNA | Mutants | Proteins | Side effects | Restoration | Blood circulation | Surgery | Retinitis | Mutation | Supplementation | Gene therapy | Growth factors | Deoxyribonucleic acid--DNA | Index Medicus | photoreceptors | autosomal dominant retinitis pigmentosa | loss-of-function | gain-of-function | dominant-negative | gene supplementation | genome-editing
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2. Full Text Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
by Sacristan-Reviriego, Almudena and Le, Hoang Mai and Georgiou, Michalis and Meunier, Isabelle and Bocquet, Beatrice and Roux, Anne-Francoise and Prodromou, Chrisostomos and Bainbridge, James and Michaelides, Michel and van der Spuy, Jacqueline
Scientific reports, ISSN 2045-2322, 10/2020, Volume 10, Issue 1, pp. 17520 - 17520
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Index Medicus
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3. Full Text Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
by Felden, Julia and Baumann, Britta and Ali, Manir and Audo, Isabelle and Ayuso, Carmen and Bocquet, Beatrice and Casteels, Ingele and Garcia‐Sandoval, Blanca and Jacobson, Samuel G and Jurklies, Bernhard and Kellner, Ulrich and Kessel, Line and Lorenz, Birgit and McKibbin, Martin and Meunier, Isabelle and Ravel, Thomy and Rosenberg, Thomas and Rüther, Klaus and Vadala, Maria and Wissinger, Bernd and Stingl, Katarina and Kohl, Susanne
Human mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1145 - 1155
transducin | mutations | GNAT2 | achromatopsia | copy number variations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Exons | Humans | Middle Aged | Child, Preschool | Infant | Male | Heterotrimeric GTP-Binding Proteins - genetics | Color Vision Defects - genetics | DNA Copy Number Variations | Young Adult | Pedigree | Adolescent | Adult | Female | Aged | Mutation | Child | Sequence Analysis, DNA - methods | Genetic research | Genetic aspects | Color blindness | Genes | Copy number | Acetylcholine receptors | Nystagmus | Transducin | Photoreceptors | Acuity | Hereditary diseases | Index Medicus
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4. Full Text Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
by Kuehlewein, Laura and Zobor, Ditta and Andreasson, Sten Olof and Ayuso, Carmen and Banfi, Sandro and Bocquet, Beatrice and Bernd, Antje S and Biskup, Saskia and Boon, Camiel J. F and Downes, Susan M and Fischer, M. Dominik and Holz, Frank G and Kellner, Ulrich and Leroy, Bart P and Meunier, Isabelle and Nasser, Fadi and Rosenberg, Thomas and Rudolph, Günther and Stingl, Katarina and Thiadens, Alberta A. H. J and Wilhelm, Barbara and Wissinger, Bernd and Zrenner, Eberhart and Kohl, Susanne and Weisschuh, Nicole
JAMA ophthalmology, ISSN 2168-6165, 12/2020, Volume 138, Issue 12, pp. 1241 - 1250
Edema | Phenotypes | Retinitis pigmentosa | Visual field | Clinical trials | Patients | Acuity | Heterozygosity | Eye | Atrophy | Genotype & phenotype | Next-generation sequencing | Alleles | Retinitis | Supplementation | Gene therapy | Genotypes | Index Medicus | Abridged Index Medicus
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5. Full Text Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
by Weisschuh, Nicole and Sturm, Marc and Baumann, Britta and Audo, Isabelle and Ayuso, Carmen and Bocquet, Beatrice and Branham, Kari and Brooks, Brian P and Catalá‐Mora, Jaume and Giorda, Roberto and Heckenlively, John R and Hufnagel, Robert B and Jacobson, Samuel G and Kellner, Ulrich and Kitsiou‐Tzeli, Sofia and Matet, Alexandre and Martorell Sampol, Loreto and Meunier, Isabelle and Rudolph, Günther and Sharon, Dror and Stingl, Katarina and Streubel, Berthold and Varsányi, Balázs and Wissinger, Bernd and Kohl, Susanne
Human mutation, ISSN 1059-7794, 01/2020, Volume 41, Issue 1, pp. 255 - 264
splicing defect | CNGB3 | achromatopsia | deep intronic variant | pseudoexon | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotypes | Splicing | Transcription | Acetylcholine receptors | Alleles | Heterozygosity | Index Medicus
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6. Full Text New Insights into Molecular Organization of Human Neuraminidase-1: Transmembrane Topology and Dimerization Ability
by Maurice, Pascal and Baud, Stéphanie and Bocharova, Olga V and Bocharov, Eduard V and Kuznetsov, Andrey S and Kawecki, Charlotte and Bocquet, Olivier and Romier, Beatrice and Gorisse, Laetitia and Ghirardi, Maxime and Duca, Laurent and Blaise, Sébastien and Martiny, Laurent and Dauchez, Manuel and Efremov, Roman G and Debelle, Laurent
Scientific reports, ISSN 2045-2322, 12/2016, Volume 6, Issue 1, pp. 38363 - 38363
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Protein Multimerization | Ubiquitin - metabolism | Cercopithecus aethiops | Neuraminidase - genetics | Substrate Specificity | Phosphatidylcholines - metabolism | Sialic Acids - chemistry | Cell Membrane - chemistry | Neuraminidase - chemistry | Protein Interaction Domains and Motifs | Binding Sites | Recombinant Proteins - metabolism | Amino Acid Sequence | Protein Conformation, alpha-Helical | Gene Expression | Cell-Free System - chemistry | Sialic Acids - metabolism | Ubiquitin - chemistry | Models, Molecular | Neuraminidase - metabolism | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Ubiquitin - genetics | Phosphatidylcholines - chemistry | Escherichia coli - chemistry | Plasmids - metabolism | Cell Membrane - enzymology | Animals | Cell-Free System - metabolism | Protein Conformation, beta-Strand | Plasmids - chemistry | Protein Binding | Structural Homology, Protein | COS Cells | Ubiquitin | Hybrids | Self-association | Exo-a-sialidase | Computer applications | Sialic acids | Localization | Dimerization | Mimicry | Index Medicus | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
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7. Full Text The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
by Tranebjærg, Lisbeth and Strenzke, Nicola and Lindholm, Sture and Rendtorff, Nanna D and Poulsen, Hanne and Khandelia, Himanshu and Kopec, Wojciech and Lyngbye, Troels J. Brünnich and Hamel, Christian and Delettre, Cecile and Bocquet, Beatrice and Bille, Michael and Owen, Hanne H and Bek, Toke and Jensen, Hanne and Østergaard, Karen and Möller, Claes and Luxon, Linda and Carr, Lucinda and Wilson, Louise and Rajput, Kaukab and Sirimanna, Tony and Harrop-Griffiths, Katherine and Rahman, Shamima and Vona, Barbara and Doll, Julia and Haaf, Thomas and Bartsch, Oliver and Rosewich, Hendrik and Moser, Tobias and Bitner-Glindzicz, Maria
Human genetics, ISSN 0340-6717, 2/2018, Volume 137, Issue 2, pp. 111 - 127
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Molecular dynamics | Nervous system diseases | Genetic aspects | Adenosine triphosphatase | Cerebellum | Basal ganglia | Brain stem | Neuropathy | Otoacoustic emissions | Speech perception | Atrophy | Missense mutation | Hemiplegia | Children | Movement disorders | Cerebellar ataxia | Central nervous system diseases | Data processing | Na+/K+-exchanging ATPase | Hearing impairment | Hearing loss | Neurological diseases | Molecular modelling | Optic atrophy | Sodium | Auditory system | Cochlea | Speech | Mutation | Dystonia | Index Medicus | Life Sciences
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8. Full Text Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
by Zeitz, Christina and Jacobson, Samuel G and Hamel, Christian P and Bujakowska, Kinga and Neuillé, Marion and Orhan, Elise and Zanlonghi, Xavier and Lancelot, Marie-Elise and Michiels, Christelle and Schwartz, Sharon B and Bocquet, Béatrice and Antonio, Aline and Audier, Claire and Letexier, Mélanie and Saraiva, Jean-Paul and Luu, Tien D and Sennlaub, Florian and Nguyen, Hoan and Poch, Olivier and Dollfus, Hélène and Lecompte, Odile and Kohl, Susanne and Sahel, José-Alain and Bhattacharya, Shomi S and Audo, Isabelle and Congenital Stationary Night Blindness Consortium and Congenital Stationary Night
American journal of human genetics, ISSN 0002-9297, 01/2013, Volume 92, Issue 1, pp. 67 - 75
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Membrane Proteins - genetics | Humans | Middle Aged | Male | Membrane Proteins - analysis | Retina - chemistry | Eye Diseases, Hereditary - genetics | Polymorphism, Genetic | Exome | Myopia - genetics | Female | Genetic Diseases, X-Linked - genetics | Mutation | Night Blindness - genetics | Usage | Gene mutations | Exome sequencing | Causes of | Night blindness | Cellular signal transduction | Genetic aspects | Research | Single nucleotide polymorphisms | Immunoglobulins | Genetic disorders | Proteins | Genes | Eye diseases | Retina | Cells | Index Medicus | Report
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9. Full Text Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
by Piro-Megy, Camille and Sarzi, Emmanuelle and Tarres-Sole, Aleix and Pequignot, Marie and Hensen, F and Quiles, Melanie and Spelbrink, H and Solà, M and Delettre, Cecile
The Journal of clinical investigation, ISSN 0021-9738, 2020, Volume 130, Issue 1, pp. 143 - 156
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Scientific equipment and supplies industry | Optic atrophy | Analysis | Crystals | Mitochondrial DNA | Genetic aspects | Structure | Protein binding | Single-stranded DNA | Genes | Amino acid sequence | Amino acids | Patients | Eye | DNA biosynthesis | Proteins | Atrophy | Missense mutation | DNA-binding protein | Single-stranded DNA-binding protein | Fibroblasts | Replication | Mutation | Genetic testing | Deoxyribonucleic acid--DNA | Crystal structure | Index Medicus | Abridged Index Medicus | Life Sciences
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10. Full Text Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
by Tranebjærg, Lisbeth and Strenzke, Nicola and Lindholm, Sture and Rendtorff, Nanna D and Poulsen, Hanne and Khandelia, Himanshu and Kopec, Wojciech and Lyngbye, Troels J. Brünnich and Hamel, Christian and Delettre, Cecile and Bocquet, Beatrice and Bille, Michael and Owen, Hanne H and Bek, Toke and Jensen, Hanne and Østergaard, Karen and Möller, Claes and Luxon, Linda and Carr, Lucinda and Wilson, Louise and Rajput, Kaukab and Sirimanna, Tony and Harrop-Griffiths, Katherine and Rahman, Shamima and Vona, Barbara and Doll, Julia and Haaf, Thomas and Bartsch, Oliver and Rosewich, Hendrik and Moser, Tobias and Bitner-Glindzicz, Maria
Human genetics, ISSN 0340-6717, 3/2018, Volume 137, Issue 3, pp. 279 - 280
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Genetic aspects | Adenosine triphosphatase | Neuropathy | Na+/K+-exchanging ATPase | Hearing impairment | Auditory system
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