المؤلفون: Pauzuolyte, Valda, Patel, Aara, Wawrzynski, James R, Ingham, Neil J, Leong, Yeh Chwan, Karda, Rajvinder, Bitner‐Glindzicz, Maria, Berger, Wolfgang, Waddington, Simon N, Steel, Karen P, Sowden, Jane C

المصدر: Pauzuolyte, Valda; Patel, Aara; Wawrzynski, James R; Ingham, Neil J; Leong, Yeh Chwan; Karda, Rajvinder; Bitner‐Glindzicz, Maria; Berger, Wolfgang; Waddington, Simon N; Steel, Karen P; Sowden, Jane C (2023). Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. EMBO Molecular Medicine, 15(10):e17393.

مصطلحات موضوعية: Institute of Medical Molecular Genetics, 610 Medicine & health, 570 Life sciences, biology, Molecular Medicine

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/237183/1/EMBO_Mol_Med___2023___Pauzuolyte.pdfTest; info:pmid/37642150; urn:issn:1757-4676

الإتاحة: https://doi.org/10.5167/uzh-23718310.15252/emmm.202317393Test
https://www.zora.uzh.ch/id/eprint/237183Test/
https://www.zora.uzh.ch/id/eprint/237183/1/EMBO_Mol_Med___2023___Pauzuolyte.pdfTest

المؤلفون: Cheong, Sek-Shir, Hentschel, Lisa, Davidson, Alice E, Gerrelli, Dianne, Davie, Rebecca, Rizzo, Roberta, Pontikos, Nikolas, Plagnol, Vincent, Moore, Anthony T, Sowden, Jane C, Michaelides, Michel, Snead, Martin, Tuft, Stephen J, Hardcastle, Alison J

المصدر: American Journal of Human Genetics. 99(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Ophthalmology and Optometry, Genetics, Eye Disease and Disorders of Vision, Pediatric, Intellectual and Developmental Disabilities (IDD), Clinical Research, Brain Disorders, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Amino Acid Sequence, Anterior Eye Segment, Child, Child, Preschool, Complement C3, Eye Abnormalities, Female, Genes, Recessive, Humans, Male, Middle Aged, Mutation, Trypsin Inhibitor, Kazal Pancreatic, Young Adult, alpha-Macroglobulins, A2M/C3, CPAMD8, WES, anterior segment dysgenesis, development, eye, iris, lens, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9pg4g81rTest

المؤلفون: Dorgau, Birthe, Collin, Joseph, Rozanska, Agata, Zerti, Darin, Unsworth, Adrienne, Crosier, Moira, Hussain, Rafiqul, Coxhead, Jonathan, Dhanaseelan, Tamil, Patel, Aara, Sowden, Jane C., FitzPatrick, David R., Queen, Rachel, Lako, Majlinda

المصدر: Nature Communications; 4/26/2024, Vol. 15 Issue 1, p1-17, 17p

مصطلحات موضوعية: PROGENITOR cells, PLURIPOTENT stem cells, TRANSIENT analysis, RETINA, CELL differentiation

المؤلفون: Bryant, Dale, Pauzuolyte, Valda, Ingham, Neil J, Patel, Aara, Pagarkar, Waheeda, Anderson, Lucy A, Smith, Katie E, Moulding, Dale A, Leong, Yeh C, Jafree, Daniyal J, Long, David A, Al-Yassin, Amina, Steel, Karen P, Jagger, Daniel J, Forge, Andrew, Berger, Wolfgang, Sowden, Jane C, Bitner-Glindzicz, Maria

المصدر: Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; Moulding, Dale A; Leong, Yeh C; Jafree, Daniyal J; Long, David A; Al-Yassin, Amina; Steel, Karen P; Jagger, Daniel J; Forge, Andrew; Berger, Wolfgang; Sowden, Jane C; Bitner-Glindzicz, Maria (2022). The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. Journal of clinical investigation insight, 7(3):e148586.

مصطلحات موضوعية: Institute of Medical Molecular Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/219545/1/Bryant_et_al_2022.pdfTest; info:pmid/35132964; urn:issn:2379-3708

الإتاحة: https://doi.org/10.5167/uzh-21954510.1172/jci.insight.148586Test
https://www.zora.uzh.ch/id/eprint/219545Test/
https://www.zora.uzh.ch/id/eprint/219545/1/Bryant_et_al_2022.pdfTest

المؤلفون: Leong, Yeh Chwan, Di Foggia, Valentina, Pramod, Hema, Bitner-Glindzicz, Maria, Patel, Aara, Sowden, Jane C

المصدر: Stem Cell Reports (2022) (In press).

مصطلحات موضوعية: MYO7A, Müller cells, USH1B, Usher syndrome, disease modeling, oxidative stress, patient-derived iPSC, proteasomal ubiquitin-dependent protein catabolic processes, retinal degeneration, retinal organoid, retinitis pigmentosa, single-cell RNA sequencing, ubiquitin-proteosome system

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10157622/1/Pramod_Molecular%20pathology%20of%20Usher%201B%20patient-derived%20retinal%20organoids%20at%20single%20cell%20resolution_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10157622Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10157622/1/Pramod_Molecular%20pathology%20of%20Usher%201B%20patient-derived%20retinal%20organoids%20at%20single%20cell%20resolution_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10157622Test/

المؤلفون: Wawrzynski, James, Patel, Aara, Badran, Abdul, Dowell, Isaac, Henderson, Robert, Sowden, Jane C

المصدر: Frontiers in Genetics , 13 , Article 884722. (2022)

مصطلحات موضوعية: FEVR, NDP, coats disease, hearing loss, norrie disease, persistent foetal vasculature, retinal detachment (RD), retinopathy of prematurity

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10150513/1/Sowden_Spectrum%20of%20Mutations%20in%20NDP%20Resulting%20in%20Ocular%20Disease_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10150513Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10150513/1/Sowden_Spectrum%20of%20Mutations%20in%20NDP%20Resulting%20in%20Ocular%20Disease_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10150513Test/

المؤلفون: Rashidi, Hassan, Leong, Yeh Chwan, Venner, Kerrie, Pramod, Hema, Fei, Qi-Zhen, Jones, Owen JR, Moulding, Dale, Sowden, Jane C

المصدر: Scientific Reports , 12 , Article 6646. (2022)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10147550/1/s41598-022-10540-1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10147550Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10147550/1/s41598-022-10540-1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10147550Test/

المؤلفون: Nazlamova, Liliya, Cassidy, Emma-Jane, Sowden, Jane C, Lotery, Andrew, Lakowski, Jörn

المصدر: Stem Cells , 40 (2) pp. 190-203. (2022)

مصطلحات موضوعية: GNGT2, cone photoreceptor, optic vesicles, retinal organoids, stem cells

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10146187/1/sxab015.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10146187Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10146187/1/sxab015.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10146187Test/

المؤلفون: Cuevas, Elisa, Holder, Daniel L., Alshehri, Ashwak H., Tréguier, Julie, Lakowski, Jorn, Sowden, Jane C.

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/447395/1/Elisa_Cuevas.pdfTest; Cuevas, Elisa, Holder, Daniel L., Alshehri, Ashwak H., Tréguier, Julie, Lakowski, Jorn and Sowden, Jane C. (2021) NRL−/− gene edited human embryonic stem cells generate rod‐deficient retinal organoids enriched in S‐cone‐like photoreceptors. Stem Cells, 39 (4), 414-428. (doi:10.1002/stem.3325 ).

الإتاحة: https://doi.org/10.1002/stem.3325Test
https://eprints.soton.ac.uk/447395Test/
https://eprints.soton.ac.uk/447395/1/Elisa_Cuevas.pdfTest

المؤلفون: Cuevas, Elisa, Holder, Daniel L., Alshehri, Ashwak H., Tréguier, Julie, Lakowski, Jörn, Sowden, Jane C.

المساهمون: Fight for Sight UK, Great Ormond Street Hospital Charity, Medical Research Council, National Institute for Health Research, NIHR Great Ormond Street Hospital Biomedical Research Centre, Saudi Arabia Cultural Bureau in London, Wellcome Trust, Medical Research Council Canada

المصدر: Stem Cells ; volume 39, issue 4, page 414-428 ; ISSN 1066-5099 1549-4918

مصطلحات موضوعية: Cell Biology, Developmental Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1002/stem.3325Test
https://academic.oup.com/stmcls/article-pdf/39/4/414/42605391/stmcls_39_4_414.pdfTest