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Pathogenic mechanisms and the prospect of gene therapy for choroideremia

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Landon J. Rohowetz, Anne L. Kunkler, Jesse D. Sengillo, Thomas A. Lazzarini, Byron L. Lam & Audina M. Berrocal. (2023) Choroideremia presenting as vision loss secondary to choroidal neovascularization. Ophthalmic Genetics 0:0, pages 1-5.
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Hashem H Ghoraba, Amir Akhavanrezayat, Irmak Karaca, Negin Yavari, Sherin Lajevardi, Jaclyn Hwang, Jonathan Regenold, Wataru Matsumiya, Brandon Pham, Moosa Zaidi, Azadeh Mobasserian, Anthony Toan DongChau, Christopher Or, Cigdem Yasar, Kapil Mishra, Diana Do & Quan Dong Nguyen. (2022) Ocular Gene Therapy: A Literature Review with Special Focus on Immune and Inflammatory Responses. Clinical Ophthalmology 16, pages 1753-1771.
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Nicholas A. Moore, Nuria Morral, Thomas A. Ciulla & Peter Bracha. (2018) Gene therapy for inherited retinal and optic nerve degenerations. Expert Opinion on Biological Therapy 18:1, pages 37-49.
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Articles from other publishers (29)

Robert E. MacLaren, M. Dominik Fischer, James A. Gow, Byron L. Lam, Eeva-Marja K. Sankila, Aniz Girach, Sushil Panda, Dan Yoon, Guolin Zhao & Mark E. Pennesi. (2023) Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial. Nature Medicine 29:10, pages 2464-2472.
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Yuning Song, Chunjie Chen, Yue Xie, Tengyang Sun, Ke Xu & Yang Li. (2022) Clinical and genetic findings in a Chinese cohort with choroideremia. Eye 37:3, pages 459-466.
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Tomas S. Aleman, Rachel M. Huckfeldt, Leona W. Serrano, Denise J. Pearson, Grace K. Vergilio, Sarah McCague, Kathleen A. Marshall, Manzar Ashtari, Tu M. Doan, Carol A. Weigel-DiFranco, Bethany S. Biron, Xiao-Hong Wen, Daniel C. Chung, Emily Liu, Kevin Ferenchak, Jessica I.W. Morgan, Eric A. Pierce, Dean Eliott, Jean Bennett, Jason Comander & Albert M. Maguire. (2022) Adeno-Associated Virus Serotype 2–hCHM Subretinal Delivery to the Macula in Choroideremia. Ophthalmology 129:10, pages 1177-1191.
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Niccolò Di Giosaffatte, Michele Valiante, Stefano Tricarico, Giulia Parise, Anna Maria De Negri, Guido Ricciotti, Lara Florean, Alessandro Paiardini, Irene Bottillo & Paola Grammatico. (2022) A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 13:7, pages 1268.
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Duygu Bozkaya, Heng Zou, Cindy Lu, Nicole W. Tsao & Byron L. Lam. (2022) Bilateral visual acuity decline in males with choroideremia: a pooled, cross-sectional meta-analysis. BMC Ophthalmology 22:1.
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Vasiliki Kalatzis, Anne-Françoise Roux & Isabelle Meunier. (2021) Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date. Molecular Diagnosis & Therapy 25:6, pages 661-675.
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Luis A. Martinez Velazquez & Brian G. Ballios. (2021) The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease. International Journal of Molecular Sciences 22:21, pages 11542.
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Ilkay Kilic Muftuoglu, Mayss Al-Sheikh, Sushma J, Mohammed Abdul Rasheed, Sumit Randhir Singh & Jay Chhablani. (2021) Imaging in inherited retinal disorders. European Journal of Ophthalmology 31:4, pages 1656-1676.
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Christina Zeitz, Marco Nassisi, Caroline Laurent‐Coriat, Camille Andrieu, Fiona Boyard, Christel Condroyer, Vanessa Démontant, Aline Antonio, Marie‐Elise Lancelot, Helen Frederiksen, Barbara Kloeckener‐Gruissem, Said El‐Shamieh, Xavier Zanlonghi, Isabelle Meunier, Anne‐Françoise Roux, Saddek Mohand‐Saïd, José‐Alain Sahel & Isabelle Audo. (2021) CHM mutation spectrum and disease: An update at the time of human therapeutic trials . Human Mutation 42:4, pages 323-341.
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Alexandra S. Vitale, Lydia Sauer, Natalie K. Modersitzki & Paul S. Bernstein. (2020) Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) in Patients with Choroideremia. Translational Vision Science & Technology 9:10, pages 33.
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Ana Mercedes Vanegas-Torres, Carolina López Bedoya, Jorge Andrés Ramírez-Orozco, Juan Felipe González-Franco & Juan Camilo Suárez-Escudero. (2020) Coroideremia familiar: reporte de caso con énfasis en la evolución clínica y adquisición de discapacidad visual. Revista Médicas UIS 33:2, pages 109-115.
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Carla Sanjurjo-Soriano, Nejla Erkilic, David Baux, Daria Mamaeva, Christian P. Hamel, Isabelle Meunier, Anne-Françoise Roux & Vasiliki Kalatzis. (2020) Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles. Molecular Therapy - Methods & Clinical Development 17, pages 156-173.
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Handong Dan, Tuo Li, Xinlan Lei, Xin Huang, Yiqiao Xing & Yin Shen. (2020) Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia . Bioscience Reports 40:5.
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Marta Stevanovic, Jasmina Cehajic Kapetanovic, Jasleen K. Jolly & Robert E. MacLaren. (2019) A distinct retinal pigment epithelial cell autofluorescence pattern in choroideremia predicts early involvement of overlying photoreceptors. Acta Ophthalmologica 98:3.
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Ian M. MacDonald, Natalia Binczyk, Alina Radziwon & Ioannis Dimopoulos. 2020. Hereditary Chorioretinal Disorders. Hereditary Chorioretinal Disorders 99 106 .
Mark E. PennesiDavid G. BirchJacque L. DuncanJean Bennett & Aniz Girach. (2019) CHOROIDEREMIA. Retina 39:11, pages 2059-2069.
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Kenneth G.-J. Ooi, Pauline Khoo, Veronika Vaclavik & Stephanie L. Watson. (2019) Statins in ophthalmology. Survey of Ophthalmology 64:3, pages 401-432.
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Dario Pasquale Mucciolo, Vittoria Murro, Andrea Sodi, Ilaria Passerini, Dario Giorgio, Gianni Virgili & Stanislao Rizzo. (2019) Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review. Ophthalmologica 242:4, pages 195-207.
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Byron L. Lam, Janet L. Davis, Ninel Z. Gregori, Robert E. MacLaren, Aniz Girach, Jennifer D. Verriotto, Belen Rodriguez, Potyra R. Rosa, Xiaojun Zhang & William J. Feuer. (2019) Choroideremia Gene Therapy Phase 2 Clinical Trial: 24-Month Results. American Journal of Ophthalmology 197, pages 65-73.
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Alina Radziwon, Woo Jung Cho, Artur Szkotak, Miyoung Suh & Ian M. MacDonald. (2018) Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients. Investigative Opthalmology & Visual Science 59:11, pages 4464.
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Ioannis S. Dimopoulos, Paul R. Freund, JACOB A. Knowles & Ian M. MacDonald. (2018) THE NATURAL HISTORY OF FULL-FIELD STIMULUS THRESHOLD DECLINE IN CHOROIDEREMIA. Retina 38:9, pages 1731-1742.
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Xin Fu, Viet Anh Nguyen Huu, Yaou Duan, Daniel S Kermany, Carolina C S Valentim, Runze Zhang, Jie Zhu, Charlotte L Zhang, Xiaodong Sun & Kang Zhang. (2018) Clinical applications of retinal gene therapies. Precision Clinical Medicine 1:1, pages 5-20.
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Carla Sanjurjo-Soriano & Vasiliki Kalatzis. (2018) Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy. Neural Plasticity 2018, pages 1-15.
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Amir H. Hariri, Swetha B. Velaga, Aniz Girach, Michael S. Ip, Phuc V. Le, Byron L. Lam, M. Dominik Fischer, Eeva-Marja Sankila, Mark E. Pennesi, Frank G. Holz, Robert E. MacLaren, David G. Birch, Carel B. Hoyng, Ian M. MacDonald, Graeme C. Black, Stephen H. Tsang, Neil M. Bressler, Michael Larsen, Michael B. Gorin, Andrew R. Webster & SriniVas R. Sadda. (2017) Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia. American Journal of Ophthalmology 179, pages 110-117.
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Alina Radziwon, Gavin Arno, Dianna K. Wheaton, Ellen M. McDonagh, Emma L. Baple, Kaylie Webb-Jones, David G. Birch, Andrew R. Webster & Ian M. MacDonald. (2017) Single-base substitutions in the CHM promoter as a cause of choroideremia . Human Mutation 38:6, pages 704-715.
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Tomas S. Aleman, Grace Han, Leona W. Serrano, Nicole M. Fuerst, Emily S. Charlson, Denise J. Pearson, Daniel C. Chung, Anastasia Traband, Wei Pan, Gui-shuang Ying, Jean Bennett, Albert M. Maguire & Jessica I.W. Morgan. (2017) Natural History of the Central Structural Abnormalities in Choroideremia. Ophthalmology 124:3, pages 359-373.
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Rosa Dolz-Marco, Camiel Boon, Roberto Gallego-Pinazo & Jay Chhablani. 2017. Choroidal Disorders. Choroidal Disorders 63 72 .
Jesse D. Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral & Stephen H. Tsang. (2016) Gene and cell-based therapies for inherited retinal disorders: An update. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 172:4, pages 349-366.
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Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J. Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez & Carmen Ayuso. (2016) A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. PLOS ONE 11:4, pages e0151943.
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