检索结果 - Vasiliki Kalatzis

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  1. 1
    Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin

    Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin 由 Vasiliki Kalatzis

    出版 2004
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  2. 2
    The fundamental and medical impacts of recent progress in research on hereditary hearing loss

    The fundamental and medical impacts of recent progress in research on hereditary hearing loss 由 Vasiliki Kalatzis

    出版 1998
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  3. 3
    Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter

    Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter 由 Vasiliki Kalatzis

    出版 2001
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  4. 4
    The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif

    The Targeting of Cystinosin to the Lysosomal Membrane Requires a Tyrosine-based Signal and a Novel Sorting Motif 由 Stéphanie Cherqui, Vasiliki Kalatzis, Germain Trugnan, Corinne Antignac

    出版 2001
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  5. 5
    Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

    Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa 由 Michalitsa Diakatou, Gae͏̈l Manes, Béatrice Bocquet, Isabelle Meunier, Vasiliki Kalatzis

    出版 2019
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  6. 6
    Renal phenotype of the cystinosis mouse model is dependent upon genetic background

    Renal phenotype of the cystinosis mouse model is dependent upon genetic background 由 Nathalie Névo, Marie Chol, A Bailleux, Vasiliki Kalatzis, Ludivine Morisset, Olivier Devuyst, Marie‐Claire Gubler, Corinne Antignac

    出版 2009
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  7. 7
    Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

    Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles 由 Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne‐Françoise Roux, Vasiliki Kalatzis

    出版 2019
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  8. 8
    Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

    Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model 由 Mariya Moosajee, Dhani Tracey‐White, Matthew Smart, Marla Weetall, Simona Torriano, Vasiliki Kalatzis, Lyndon da Cruz, Peter Coffey, Andrew R. Webster, Ellen Welch

    出版 2016
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  9. 9
    Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

    Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient 由 Nicolas Cereso, Marie O. Péquignot, Lorenne Robert, Fabienne Becker, Valerie De Luca, Nicolas Nabholz, Valérie Rigau, John De Vos, Christian P. Hamel, Vasiliki Kalatzis

    出版 2014
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  10. 10
    Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis

    Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in Cystinosis 由 Stéphanie Cherqui, Caroline Sevin, Ghislaine Hamard, Vasiliki Kalatzis, Mireille Sich, Marie O. Péquignot, Karı̈n Gogat, Marc Abitbol, M. Broyer, Marie‐Claire Gubler, Corinne Antignac

    出版 2002
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  11. 11
    Zika virus induces strong inflammatory responses and impairs homeostasis and function of the human retinal pigment epithelium

    Zika virus induces strong inflammatory responses and impairs homeostasis and function of the human retinal pigment epithelium 由 Yannick Simonin, Nejla Erkilic, Krishna Damodar, Marion Clé, Caroline Desmetz, Karine Bolloré, Mehdi Taleb, Simona Torriano, Jonathan Barthelemy, Grégor Dubois, Anne Lajoix, Vincent Foulongne, Édouard Tuaillon, Philippe Van de Perre, Vasiliki Kalatzis, Sara Salinas

    出版 2018
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  12. 12
    The Cell Adhesion Molecule “CAR” and Sialic Acid on Human Erythrocytes Influence Adenovirus In Vivo Biodistribution

    The Cell Adhesion Molecule “CAR” and Sialic Acid on Human Erythrocytes Influence Adenovirus In Vivo Biodistribution 由 Elena Seiradake, Daniel Henaff, Harald Wodrich, Olivier Billet, Matthieu Perreau, Claire Hippert, Franck J. D. Mennechet, Guy Schoehn, Hugues Lortat‐Jacob, Hanna Dreja, Sandy Ibanes, Vasiliki Kalatzis, Jennifer Wang, Robert W. Finberg, S. Cusack, Eric J. Kremer

    出版 2009
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  13. 13
    Study of Usutu virus neuropathogenicity in mice and human cellular models

    Study of Usutu virus neuropathogenicity in mice and human cellular models 由 Marion Clé, Jonathan Barthelemy, Caroline Desmetz, Vincent Foulongne, Lina Lapeyre, Karine Bolloré, Édouard Tuaillon, Nejla Erkilic, Vasiliki Kalatzis, Sylvie Lecollinet, Cécile Beck, Nelly Pirot, Yaël Glasson, Fabien Gosselet, María Teresa Álvarez Martínez, Philippe Van de Perre, Sara Salinas, Yannick Simonin

    出版 2020
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  14. 14
    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation

    SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation 由 Jean‐Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Guéguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, E. Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne‐Françoise Roux, Benjamin Cogné, David Baux

    出版 2023
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  15. 15
    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice 由 Rocío Sánchez-Alcudia, Maria García‐Hoyos, Miguel Ángel López-Martínez, Noelia Sanchez-Bolivar, Olga Zurita, Ascensión Giménez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Cortón, Raquel Pérez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Ávila‐Fernández, Isabel Lorda, María José Trujillo-Tiebas, Blanca García‐Sandoval, María Isabel López-Molina, Fiona Blanco‐Kelly, Rosa Riveiro-Álvarez, Carmen Ayuso

    出版 2016
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  16. 16
    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

    De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa 由 Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, Erica G. M. Boonen, Mukhtar Ullah, Nick Zomer, Marc Folcher, Jacques Bijon, Lara K. Holtes, Stephen H. Tsang, Zelia Corradi, K. Bailey Freund, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti‐Malin, Manir Ali, Alaa AlTalbishi, Sten Andréasson, Georg Ansari, Gavin Arno, Galuh Astuti, Carmen Ayuso, Radha Ayyagari, Sandro Banfi, Eyal Banin, Mirella Telles Salgueiro Barboni, Miriam Bauwens, Tamar Ben‐Yosef, David G. Birch, Pooja Biswas, Fiona Blanco‐Kelly, Béatrice Bocquet, Camiel J. F. Boon, Kari Branham, Alexis Ceecee Britten‐Jones, Kinga M. Bujakowska, Elizabeth L. Cadena, Giacomo Calzetti, Francesca Cancellieri, Luca Cattaneo, Peter Charbel Issa, Naomi Chadderton, Luísa Coutinho Santos, Stephen P. Daiger, Elfride De Baere, Berta de la Cerda, John N. De Roach, Julie De Zaeytijd, Ronny Derks, Claire‐Marie Dhaenens, Ľubica Ďuďáková, Jacque L. Duncan, G. Jane Farrar, Nicolas Feltgen, Lidia Fernández‐Caballero, Juliana Maria Ferraz Sallum, Simone Gana, Alejandro Garanto, Jessica C. Gardner, Christian Gilissen, Kensuke Goto, Roser Gonzàlez‐Duarte, Sam Griffiths‐Jones, Tobias B. Haack, Lonneke Haer‐Wigman, Alison J. Hardcastle, Takaaki Hayashi, Elise Héon, Alexander Hoischen, Josephine Prener Holtan, Carel B. Hoyng, Manuel Benjamin B. Ibanez, Chris F. Inglehearn, Takeshi Iwata, Kaylie Webb-Jones, Vasiliki Kalatzis, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Krisztina Knézy, Caroline C. W. Klaver, Robert K. Koenekoop, Susanne Kohl, Taro Kominami, Laura Kuehlewein, Tina M. Lamey, Bart P. Leroy, María Pilar Martín-Gutiérrez, Nelson Martins, L. Mauring, Rina Leibu, Siying Lin, Petra Lišková, Irma López, Víctor Rodríguez, Omar A. Mahroo, Gae͏̈l Manes

    出版 2025
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