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1

دورية أكاديمية

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models

المؤلفون: Humphries, Marian, Farrar, Gwyneth, Humphries, Peter, Kenna, Paul

مصطلحات موضوعية: AMD models, gene therapy, retina, BEST1, Mitochondria, Promoter, Age-related macular degeneration, AAV, RPE, VMD2

العلاقة: International Journal of Molecular Sciences; 24; 4; Millington-Ward S, Chadderton N, Finnegan LK, Post IJM, Carrigan M, Nixon R, Humphries MM, Humphries P, Kenna PF, Palfi A, Farrar GJ. RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models, International Journal of Molecular Sciences; 2023 Feb 14;24(4):3847; Y; http://hdl.handle.net/2262/102715Test; http://people.tcd.ie/gjfarrarTest; http://people.tcd.ie/phumphrsTest; http://people.tcd.ie/pfkennaTest; http://people.tcd.ie/mhumphriTest; 251397; http://dx.doi.org/10.3390/ijms24043847Test

الإتاحة: https://doi.org/10.3390/ijms24043847Test
http://hdl.handle.net/2262/102715Test
http://people.tcd.ie/gjfarrarTest
http://people.tcd.ie/phumphrsTest
http://people.tcd.ie/pfkennaTest
http://people.tcd.ie/mhumphriTest

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2

دورية أكاديمية

RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models

المؤلفون: Sophia Millington-Ward, Naomi Chadderton, Laura K. Finnegan, Iris J. M. Post, Matthew Carrigan, Rachel Nixon, Marian M. Humphries, Pete Humphries, Paul F. Kenna, Arpad Palfi, G. Jane Farrar

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 4; Pages: 3847

مصطلحات موضوعية: age-related macular degeneration, retina, gene therapy, AAV, RPE, VMD2, promoter, mitochondria, BEST1

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24043847Test

الإتاحة: https://doi.org/10.3390/ijms24043847Test

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3

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy

المؤلفون: Chuan Chen, Tao Li, Xialin Liu, Yi Zhu, Ying Lin, Lin Lu, Xiujuan Zhao, Hongbin Gao, Wenli Zhou, Xiaoling Liang, Xinhua Huang, Hongye Jiang, Yonghao Li, Bingqian Liu, Yu Lian, Chenjin Jin

المصدر: Molecular Medicine Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Pathology, Bestrophins, genetic structures, Fundus (eye), medicine.disease_cause, Biochemistry, Exon, 0302 clinical medicine, single nucleotide polymorphism, Genotype, Fluorescein Angiography, Child, Mutation, biology, Ophthalmoscopes, Articles, Vitelliform Macular Dystrophy, Phenotype, Oncology, Molecular Medicine, medicine.medical_specialty, Single-nucleotide polymorphism, Vitelliform macular dystrophy, Polymorphism, Single Nucleotide, 03 medical and health sciences, VMD2, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, Alleles, Genetic Association Studies, business.industry, bestrophin 1, Sequence Analysis, DNA, medicine.disease, eye diseases, 030104 developmental biology, Bestrophin 1, 030221 ophthalmology & optometry, biology.protein, best vitelliform macular dystrophy, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a227aabe1a4ab3142684fc0f8f036e62Test
https://doi.org/10.3892/mmr.2017.7174Test

4

دورية أكاديمية

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

المؤلفون: Marchant, D, Kuai, Y., Roche, O, Germain, A, Bonneau, D, Schorderet, D, Schmidt, D, Le Neindre, P, Marsac, C, Menasche, M, Dufier, J, Fischmeister, R, Hartzell, C, Abitbol, M

المساهمون: Centre d'Etudes et de Recherche Thérapeutique en Ophtalmologie (CERTO), Association RETINA France, Partenaires INRAE-Partenaires INRAE, Signalisation et physiopathologie cardiaque, Université Paris-Sud - Paris 11 (UP11)-IFR141-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: Best's macular dystrophy, VMD2 (OMIM 153700), chloride channel, [SDV]Life Sciences [q-bio]

العلاقة: hal-02942101; https://hal.science/hal-02942101Test; https://hal.science/hal-02942101/documentTest; https://hal.science/hal-02942101/file/Version%20HAL.pdfTest

الإتاحة: https://doi.org/10.1136/jmg.2006.044511Test
https://hal.science/hal-02942101Test
https://hal.science/hal-02942101/documentTest
https://hal.science/hal-02942101/file/Version%20HAL.pdfTest

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5

Analysis of the Gene and Protein Causing Best Macular Dystrophy

المؤلفون: Bakall, Benjamin, 1974

المساهمون: Larsson, Catharina, Professor

المصدر: Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: Genetics, VMD2, bestrophin, macular degenration, mutation analysis, Genetik, MEDICINE, Dermatology and venerology, clinical genetics, internal medicine, Clinical genetics, MEDICIN, Dermatologi och venerologi, klinisk genetik, invärtesmedicin, Klinisk genetik, Clinical Genetics

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3220Test
https://uu.diva-portal.org/smash/get/diva2:162260/FULLTEXT01.pdfTest

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6

دورية أكاديمية

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

المؤلفون: Marchant, D, Kuai, Y., Roche, O, Germain, A, Bonneau, D, Schorderet, D, Schmidt, D, Le Neindre, P, Marsac, C, Menasche, M, Dufier, J, Fischmeister, R, Hartzell, C, Abitbol, M

المساهمون: Centre d'Etudes et de Recherche Thérapeutique en Ophtalmologie (CERTO), Association RETINA France, Partenaires INRAE-Partenaires INRAE, Signalisation et physiopathologie cardiaque, Université Paris-Sud - Paris 11 (UP11)-IFR141-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: Best's macular dystrophy, VMD2 (OMIM 153700), chloride channel, [SDV]Life Sciences [q-bio]

العلاقة: hal-02942101; https://hal.archives-ouvertes.fr/hal-02942101Test; https://hal.archives-ouvertes.fr/hal-02942101/documentTest; https://hal.archives-ouvertes.fr/hal-02942101/file/Version%20HAL.pdfTest

الإتاحة: https://doi.org/10.1136/jmg.2006.044511Test
https://hal.archives-ouvertes.fr/hal-02942101Test
https://hal.archives-ouvertes.fr/hal-02942101/documentTest
https://hal.archives-ouvertes.fr/hal-02942101/file/Version%20HAL.pdfTest

View record in BASE