المؤلفون: Peter Kiraly, Charles L. Cottriall, Laura J. Taylor, Jasleen K. Jolly, Jasmina Cehajic-Kapetanovic, Imran H. Yusuf, Cristina Martinez-Fernandez de la Camara, Morag Shanks, Susan M. Downes, Robert E. MacLaren, M. Dominik Fischer

المصدر: Biomolecules, Vol 13, Iss 10, p 1484 (2023)

مصطلحات موضوعية: voretigene neparvovec, gene therapy, RPE65-mediated inherited retinal dystrophies, IRD, functional outcomes, adverse effects, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/13/10/1484; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/99c071e0ba0346e58841000ed615d6ad

المؤلفون: Laurel C. Chandler, Michelle E. McClements, Imran H. Yusuf, Cristina Martinez-Fernandez de la Camara, Robert E. MacLaren, Kanmin Xue

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 52-65 (2021)

مصطلحات موضوعية: adeno-associated virus, AAV, retinal gene therapy, retinal inflammation, gene therapy-associated uveitis, cellular immune response, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050121000954; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/9fa93a0beac54c8b9c2ba8730ae13edc

المؤلفون: Harry O. Orlans, Michelle E. McClements, Alun R. Barnard, Cristina Martinez-Fernandez de la Camara, Robert E. MacLaren

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f079a2227d8741e1858d4c8fe8a57b28

المؤلفون: Maria I. Patrício, Christopher I. Cox, Clare Blue, Alun R. Barnard, Cristina Martinez-Fernandez de la Camara, Robert E. MacLaren

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 99-106 (2020)

مصطلحات موضوعية: AAV, choroideremia, retinal gene therapy, prenylation, surfactant, biocompatibility, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050119301305; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/49c20b8bb5de44f498778030fc2b34c4

المؤلفون: William J. Waldock, Laura J. Taylor, Sian Sperring, Federica Staurenghi, Cristina Martinez-Fernandez de la Camara, Jennifer Whitfield, Penny Clouston, Imran H. Yusuf, Robert E. MacLaren

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Developmental Biology, Cancer, Infectious Diseases, Virology, Computational Biology, Environmental Sciences not elsewhere classified, Choroideremia, gene therapy, splice site mutation, genetic analysis

Relation: https://figshare.com/articles/journal_contribution/A_hypomorphic_variant_of_choroideremia_is_associated_with_a_novel_intronic_mutation_that_leads_to_exon_skipping/25067703

الاتاحة: https://doi.org/10.6084/m9.figshare.25067703.v1
https://figshare.com/articles/journal_contribution/A_hypomorphic_variant_of_choroideremia_is_associated_with_a_novel_intronic_mutation_that_leads_to_exon_skipping/25067703

المؤلفون: Cristina Martinez-Fernandez de la Camara, Michelle McClements, Robert MacLaren

المصدر: Genes; Volume 12; Issue 4; Pages: 601

مصطلحات موضوعية: adeno-associated virus, gene therapy, quantitative PCR

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12040601

الاتاحة: https://doi.org/10.3390/genes12040601

المؤلفون: Jasmina Cehajic Kapetanovic, Michelle E McClements, Cristina Martinez-Fernandez de la Camara, Robert E MacLaren

المصدر: Genes, Vol 10, Iss 9, p 674 (2019)

مصطلحات موضوعية: Retinitis Pigmentosa GTPase Regulator, gene therapy, adeno-associated viral, Retinitis Pigmentosa (RP), Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/10/9/674; https://doaj.org/toc/2073-4425; https://doaj.org/article/92fba9e091344b588aeac4733a0ffe06

الاتاحة: https://doi.org/10.3390/genes10090674
https://doaj.org/article/92fba9e091344b588aeac4733a0ffe06

المؤلفون: Ruofan Connie Han, Laura J Taylor, Cristina Martinez-Fernandez de la Camara, Robert H Henderson, Dorothy A Thompson, Jasmina Cehajic-Kapetanovic, Robert E MacLaren

المصدر: Ophthalmic genetics.

مصطلحات موضوعية: Ophthalmology, Pediatrics, Perinatology and Child Health, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a978b38cead01d1ec0a50705c48efa52
https://pubmed.ncbi.nlm.nih.gov/36602268

المؤلفون: Cristina, Martinez-Fernandez de la Camara, Jasmina, Cehajic-Kapetanovic, Robert E, MacLaren

المصدر: Expert opinion on emerging drugs. 27(4)

مصطلحات موضوعية: Mutation, Humans, Proteins, RNA, Genetic Therapy, Eye Proteins, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1567d63b73f9f8f0b0a343f02b9de02d
https://pubmed.ncbi.nlm.nih.gov/36562394

المؤلفون: Cristina Martinez-Fernandez de la Camara, Jasmina Cehajic-Kapetanovic, Robert E. MacLaren

المصدر: Expert opinion on emerging drugs. 27(4)

مصطلحات موضوعية: Pharmacology, Pharmacology (medical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1962a1f0bd9472ba67bda1370c0bbc8
https://pubmed.ncbi.nlm.nih.gov/36562395

المؤلفون: Jasmina Cehajic-Kapetanovic, Cristina Martinez-Fernandez de la Camara, Johannes Birtel, Salwah Rehman, Michelle E. McClements, Peter Charbel Issa, Andrew J Lotery, Robert E. MacLaren

المصدر: Proceedings of the National Academy of Sciences. 119

مصطلحات موضوعية: Multidisciplinary

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::67110b3fa34f67176827f2df381a423e
https://doi.org/10.1073/pnas.2208707119

المؤلفون: Lorena Olivares-González, Cristina Martínez-Fernández de la Cámara, David Hervás, María Pilar Marín, Agustin Lahoz, José María Millán, Regina Rodrigo

المصدر: PLoS ONE, Vol 11, Iss 11, p e0166717 (2016)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC5115799?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/cf42187bb8aa4a45ae87ea861036b353

الاتاحة: https://doi.org/10.1371/journal.pone.0166717
https://doaj.org/article/cf42187bb8aa4a45ae87ea861036b353

المؤلفون: Robert E MacLaren, Harry O Orlans, Michelle E. McClements, Alun R. Barnard, Cristina Martinez-Fernandez de la Camara

المصدر: Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Rhodopsin, genetic structures, Science, RNA Splicing, Genetic Vectors, General Physics and Astronomy, Gene mutation, Biology, General Biochemistry, Genetics and Molecular Biology, Retina, Article, Mice, Gene therapy, Mirtron, RNA interference, Retinitis pigmentosa, medicine, Gene Knockdown Techniques, Animals, Humans, Gene knockdown, Multidisciplinary, Molecular medicine, Retinal Degeneration, Intron, Hereditary eye disease, General Chemistry, Genetic Therapy, Dependovirus, medicine.disease, eye diseases, Cell biology, Disease Models, Animal, MicroRNAs, HEK293 Cells, RNAi, RNA splicing, RNA, RNA Interference, sense organs, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d763a884a5b2e72b00d42ebcc5cfa5
https://ora.ox.ac.uk/objects/uuid:d5255281-048a-4e08-ac4a-f0defc618a77

المؤلفون: M. Dominik Fischer, Alexandra Davies, Edmond Luo, Cristina Martinez-Fernandez de la Camara, James Aylward, Anna Paola Salvetti, Byron L. Lam, Jasmina Cehajic-Kapetanovic, Potyra R. Rosa, Aniz Girach, Tuyen Ong, Laura J Wood, Jasleen K Jolly, Brandon J. Lujan, Graeme C.M. Black, Alun R. Barnard, Ninel Z. Gregori, Robert E MacLaren, Paulo E. Stanga, Andrew J. Lotery, Anika Nanda, Kanmin Xue, Janet L. Davis

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Visual acuity, Genetic enhancement, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Ophthalmology, Retinitis pigmentosa, medicine, Clinical endpoint, Retina, business.industry, Retinal, General Medicine, medicine.disease, eye diseases, Clinical trial, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, medicine.symptom, business, Microperimetry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::599e0e25ff2a57b4ee69a8de68818190
https://ora.ox.ac.uk/objects/uuid:4e8ab24d-7fab-49f1-993b-3bc234ed1928

المؤلفون: Cristina Martínez-Fernández de la Cámara, David Salom, Ma Dolores Sequedo, David Hervás, Cristina Marín-Lambíes, Elena Aller, Teresa Jaijo, Manuel Díaz-Llopis, José María Millán, Regina Rodrigo

المصدر: PLoS ONE, Vol 8, Iss 9, p e74223 (2013)

مصطلحات موضوعية: Medicine, Science

Relation: http://europepmc.org/articles/PMC3772065?pdf=render; https://doaj.org/toc/1932-6203; https://doaj.org/article/aac30e91cbe6429c84751d2c3a7e13e4

الاتاحة: https://doi.org/10.1371/journal.pone.0074223
https://doaj.org/article/aac30e91cbe6429c84751d2c3a7e13e4

المؤلفون: Anna Paola Salvetti, Cristina Martinez-Fernandez de la Camara, M. Dominik Fischer, Anika Nanda, Robert E MacLaren

المصدر: Expert Opinion on Orphan Drugs. 6:167-177

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Genetic enhancement, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Pharmacology (medical), Pharmacology, Toxicology and Pharmaceutics (miscellaneous), Adeno-associated virus, Gene, business.industry, Health Policy, Retinitis pigmentosa GTPase regulator, medicine.disease, Phenotype, eye diseases, 030104 developmental biology, 030221 ophthalmology & optometry, Cancer research, sense organs, X-linked retinitis pigmentosa, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e769a541c438bcc744bca08d5ab256b6
https://doi.org/10.1080/21678707.2018.1444476

المؤلفون: Cristina Martinez-Fernandez de la Camara, José M. Millán, Regina Rodrigo, Lorena Olivares-González, David Hervás

المصدر: The FASEB Journal. 32:2438-2451

مصطلحات موضوعية: Vascular Endothelial Growth Factor A, 0301 basic medicine, Retinal degeneration, genetic structures, Cell Survival, Down-Regulation, Nitric Oxide Synthase Type II, Degeneration (medical), Biochemistry, Retina, Photoreceptor cell, Mice, 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, Genetics, medicine, Animals, Rod cell, Molecular Biology, Neuroinflammation, Hyperoxia, Endothelin-1, Protein Stability, Chemistry, Hypoxia-Inducible Factor 1, alpha Subunit, medicine.disease, Mice, Mutant Strains, Amino Acids, Dicarboxylic, Cell biology, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, 030221 ophthalmology & optometry, sense organs, medicine.symptom, Retinitis Pigmentosa, Retinal Dystrophies, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef98e411833ee5330fc53ff2b125a5ba
https://doi.org/10.1096/fj.201700985r

المؤلفون: Christopher I. Cox, Robert E MacLaren, Cristina Martinez-Fernandez de la Camara, Alun R. Barnard, Clare Blue, Maria I. Patrício

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 99-106 (2020)
Molecular Therapy. Methods & Clinical Development

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, surfactant, Genetic enhancement, Balanced salt solution, potency assay, Article, Choroideremia, law.invention, retinal gene therapy, 03 medical and health sciences, chemistry.chemical_compound, biocompatibility, 0302 clinical medicine, Pulmonary surfactant, law, Genetics, medicine, lcsh:QH573-671, Molecular Biology, lcsh:Cytology, Chemistry, AAV, Biological activity, Retinal, prenylation, medicine.disease, Molecular biology, lcsh:Genetics, Titer, 030104 developmental biology, 030220 oncology & carcinogenesis, Recombinant DNA, Molecular Medicine, choroideremia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ff888b2ecbe00ccf3441398dbab794
https://ora.ox.ac.uk/objects/uuid:68d2ec3a-7659-49e5-8ece-743e4aa36dd9

المؤلفون: Robert E MacLaren, Cristina Martinez-Fernandez de la Camara, Jasmina Cehajic-Kapetanovic

مصطلحات موضوعية: 0301 basic medicine, Genetic enhancement, Clinical Biochemistry, Retinitis, Computational biology, Biology, medicine.disease_cause, Article, 03 medical and health sciences, 0302 clinical medicine, Drug Discovery, Retinitis pigmentosa, medicine, Coding region, Animals, Humans, Eye Proteins, Cloning, Molecular, Adeno-associated virus, Pharmacology, Cloning, Genetic Therapy, medicine.disease, eye diseases, Clinical trial, 030104 developmental biology, 030220 oncology & carcinogenesis, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719c24c44cbb3db0f7ef1029ad2a0aae
https://europepmc.org/articles/PMC7104355/

المؤلفون: Michelle E. McClements, Jasmina Cehajic Kapetanovic, Robert E MacLaren, Cristina Martinez-Fernandez de la Camara

المصدر: Genes, Vol 10, Iss 9, p 674 (2019)
Genes

مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Genetic enhancement, Regulator, Retinitis Pigmentosa GTPase Regulator, Review, Disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Eye Proteins, Gene, Genetics (clinical), Gene Editing, Clinical Trials as Topic, business.industry, Genetic Therapy, Retinitis pigmentosa GTPase regulator, Dependovirus, medicine.disease, Phenotype, gene therapy, eye diseases, Clinical trial, Retinitis Pigmentosa (RP), lcsh:Genetics, 030104 developmental biology, 030221 ophthalmology & optometry, business, Retinitis Pigmentosa, adeno-associated viral

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7cee5aa750d2b910dfd965f9ac35293
https://www.mdpi.com/2073-4425/10/9/674