المؤلفون: Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos EJR, Ji Y, Moya Molina M, Collin J, Queen R, Dorgau B, Watson A, Kurzawa-Akanbi M, Laws R, Saxena A, Shyan Beh C, Siachisumo C, Goertler F, Karwatka M, Davey T, Inglehearn CF, McKibbin M, Luhrmann R, Steel DH, Elliott DJ, Armstrong L, Urlaub H, Ali RR, Grellscheid S-N, Johnson CA, Mozaffari-Jovin S, Lako M

المصدر: Nature Communications, December 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297986; https://eprints.ncl.ac.uk/fulltext.aspx?url=297986/1130CEA9-7E2D-47E1-AB49-F2D7D4F832AA.pdf&pub_id=297986

الاتاحة: https://eprints.ncl.ac.uk/297986

المؤلفون: Atkinson, R., Georgiou, M., Yang, C., Szymanska, K., Lahat, A., Vasconcelos, E.J.R., Ji, Y., Moya Molina, M., Collin, J., Queen, R., Dorgau, B., Watson, A., Kurzawa-Akanbi, M., Laws, R., Saxena, A., Shyan Beh, C., Siachisumo, C., Goertler, F., Karwatka, M., Davey, T., Inglehearn, C.F., McKibbin, M., Lührmann, R., Steel, D.H., Elliott, D.J., Armstrong, L., Urlaub, H., Ali, R.R., Grellscheid, S.-N., Johnson, C.A., Mozaffari-Jovin, S., Lako, M.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/216738/1/s41467-024-47253-0.pdf; Atkinson, R., Georgiou, M., Yang, C. et al. (29 more authors) (2024) PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature Communications, 15 (1). 3138. ISSN 2041-1723

الاتاحة: https://eprints.whiterose.ac.uk/216738/
https://eprints.whiterose.ac.uk/216738/1/s41467-024-47253-0.pdf

المؤلفون: Lotfi, M, Morshedi Rad, D, Mashhadi, SS, Ashouri, A, Mojarrad, M, Mozaffari-Jovin, S, Farrokhi, S, Hashemi, M, Ebrahimi Warkiani, M, Abbaszadegan, MR

مصطلحات موضوعية: 31 Biological sciences, Humans, CRISPR-Cas Systems, Gene Editing, Pluripotent Stem Cells, Cell Differentiation, Stem Cell Transplantation

وصف الملف: Print-Electronic; application/pdf

Relation: http://purl.org/au-research/grants/arc/DP200101860; Stem Cell Rev Rep; Stem Cell Rev Rep, 2023, 19, (8), pp. 2576-2596; http://hdl.handle.net/10453/175325

الاتاحة: http://hdl.handle.net/10453/175325

المؤلفون: Mozaffari-Jovin, S., Firouz-Abadi, R.D., Roshanian, J.

المصدر: Journal of Sound and Vibration ; volume 578, page 118334 ; ISSN 0022-460X

الاتاحة: https://doi.org/10.1016/j.jsv.2024.118334
https://api.elsevier.com/content/article/PII:S0022460X2400097X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022460X2400097X?httpAccept=text/plain

المؤلفون: Thompson, H.L., Shen, W., Matus, R., Kakkar, M., Jones, C., Dolan, D., Grellscheid, S., Yang, X., Zhang, N., Mozaffari-Jovin, S., Chen, C., Zhang, X., Topping, J.F., Lindsey, K.

المصدر: Development, 2023, Vol.150(7), pp.dev201476 [Peer Reviewed Journal]

وصف الملف: application/pdf

Relation: dro:38255; http://dro.dur.ac.uk/38255/; https://doi.org/10.1242/dev.201476; http://dro.dur.ac.uk/38255/1/38255.pdf

الاتاحة: http://dro.dur.ac.uk/38255/
http://dro.dur.ac.uk/38255/1/38255.pdf
https://doi.org/10.1242/dev.201476

المؤلفون: Georgiou, M., Atkinson, R., Mozaffari-Jovin, S., Lako, M.

المصدر: Clinical and Translational Discovery

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000D-BFDC-5; http://hdl.handle.net/21.11116/0000-000D-BFDE-3

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-BFDC-5
http://hdl.handle.net/21.11116/0000-000D-BFDE-3

المؤلفون: Georgiou, M., Yang, C., Atkinson, R., Pan, K., Buskin, A., Molina, M., Collin, J., Al‐Aama, J., Goertler, F., Ludwig, S., Davey, T., Lührmann, R., Nagaraja‐Grellscheid, S., Johnson, C., Ali, R., Armstrong, L., Korolchuk, V., Urlaub, H., Mozaffari‐Jovin, S., Lako, M.

المصدر: Clinical and Translational Medicine

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000A-82EE-7; http://hdl.handle.net/21.11116/0000-000A-82F0-3

الاتاحة: http://hdl.handle.net/21.11116/0000-000A-82EE-7
http://hdl.handle.net/21.11116/0000-000A-82F0-3

المؤلفون: Georgiou, M, Yang, C, Atkinson, R, Pan, K-T, Buskin, A, Molina, MM, Collin, J, Al-Aama, J, Goertler, F, Ludwig, SEJ, Davey, T, Luhrmann, R, Nagaraja-Grellscheid, S, Johnson, CA, Ali, R, Armstrong, L, Korolchuk, V, Urlaub, H, Mozaffari-Jovin, S, Lako, M

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/186888/1/Activation%20of%20autophagy%20reverses%20progressive%20and%20deleterious%20protein%20aggregation%20in%20PRPF31%20patient-induced%20pluripotent%20stem%20.pdf; Georgiou, M, Yang, C, Atkinson, R et al. (17 more authors) (2022) Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells. Clinical and Translational Medicine, 12 (3). e759. ISSN 2001-1326

الاتاحة: https://eprints.whiterose.ac.uk/186888/
https://eprints.whiterose.ac.uk/186888/1/Activation%20of%20autophagy%20reverses%20progressive%20and%20deleterious%20protein%20aggregation%20in%20PRPF31%20patient-induced%20pluripotent%20stem%20.pdf

المؤلفون: Yildirim, A., Mozaffari-Jovin, S., Wallisch, A., Schäfer, J., Ludwig, S., Urlaub, H., Lührmann, R., Wolfrum, U.

المصدر: Nucleic Acids Research

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0009-547B-F; http://hdl.handle.net/21.11116/0000-0009-5492-3

الاتاحة: http://hdl.handle.net/21.11116/0000-0009-547B-F
http://hdl.handle.net/21.11116/0000-0009-5492-3

المؤلفون: Yang, C, Georgiou, M, Atkinson, R, Collin, J, Al-Aama, J, Nagaraja-Grellscheid, S, Johnson, C, Ali, R, Armstrong, L, Mozaffari-Jovin, S, Lako, M

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/178310/1/Pre-mRNA%20Processing%20Factors%20and%20Retinitis%20Pigmentosa%20RNA%20Splicing%20and%20Beyond.pdf; Yang, C, Georgiou, M, Atkinson, R et al. (8 more authors) (2021) Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond. Frontiers in Cell and Developmental Biology, 9. 700276. ISSN 2296-634X

الاتاحة: https://eprints.whiterose.ac.uk/178310/
https://eprints.whiterose.ac.uk/178310/1/Pre-mRNA%20Processing%20Factors%20and%20Retinitis%20Pigmentosa%20RNA%20Splicing%20and%20Beyond.pdf

المؤلفون: Lotfi, M, Morshedi Rad, D, Mashhadi, SS, Ashouri, A, Mojarrad, M, Mozaffari-Jovin, S, Farrokhi, S, Hashemi, M, Ebrahimi Warkiani, M, Abbaszadegan, MR

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/10453/175325
http://purl.org/au-research/grants/arc/DP200101860
Stem Cell Rev Rep
10.1007/s12015-023-10585-3
http://purl.org/au-research/grants/arc/DP200101860

المؤلفون: Kafian, H., Mozaffari-Jovin, S., Bagheri, M., Shaegh, S.

المصدر: Physica Scripta

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-000D-A542-E; http://hdl.handle.net/21.11116/0000-000D-A544-C

الاتاحة: http://hdl.handle.net/21.11116/0000-000D-A542-E
http://hdl.handle.net/21.11116/0000-000D-A544-C

المؤلفون: Buskin, A., Zhu, L., Chichagova, V., Basu, B., Mozaffari-Jovin, S., Dolan, D., Droop, A., Collin, J., Bronstein, R., Mehrotra, S., Farkas, M., Hilgen, G., White, K., Pan, K.-T., Treumann, A., Hallam, D., Bialas, K., Chung, G., Mellough, C., Ding, Y., Krasnogor, N., Przyborksi, S., Zwolinski, S., Al-Aama, J., Alharthi, S., Xu, Y., Wheway, G., Szymanska, K., McKibbin, M., Inglehearn, C. F., Elliott, D. J., Lindsay, S., Ali, R. R., Steel, D. H., Armstrong, L., Sernagor, E., Urlaub, H., Pierce, E., Lührmann, R., Grellscheid, S.-N., Johnson, C. A., Lako, M.

وصف الملف: application/pdf

Relation: http://eprints.uwe.ac.uk/37368/7/s41467-018-06448-y.pdf; Buskin, A. , Zhu, L. , Chichagova, V. , Basu, B. , Mozaffari-Jovin, S. , Dolan, D. , Droop, A. , Collin, J. , Bronstein, R. , Mehrotra, S. , Farkas, M. , Hilgen, G. , White, K. , Pan, K.-T. , Treumann, A. , Hallam, D. , Bialas, K. , Chung, G. , Mellough, C. , Ding, Y. , Krasnogor, N. , Przyborksi, S. , Zwolinski, S. , Al-Aama, J. , Alharthi, S. , Xu, Y. , Wheway, G. , Szymanska, K. , McKibbin, M. , Inglehearn, C. F. , Elliott, D. J. , Lindsay, S. , Ali, R. R. , Steel, D. H. , Armstrong, L. , Sernagor, E. , Urlaub, H. , Pierce, E. , Lührmann, R. , Grellscheid, S.-N. , Johnson, C. A. and Lako, M. (2018) Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature Communications, 9. p. 4234. ISSN 2041-1723 Available from: http://eprints.uwe.ac.uk/37368

الاتاحة: http://eprints.uwe.ac.uk/37368/
http://eprints.uwe.ac.uk/37368/7/s41467-018-06448-y.pdf
https://doi.org/10.1038/s41467-018-06448-y

المؤلفون: Buskin, A, Zhu, L, Chichagova, V, Basu, B, Mozaffari-Jovin, S, Dolan, D, Droop, A, Collin, J, Bronstein, R, Mehrotra, S, Farkas, M, Hilgen, G, White, K, Pan, K-T, Treumann, A, Hallam, D, Bialas, K, Chung, G, Mellough, C, Ding, Y, Krasnogor, N, Przyborski, S, Zwolinski, S, Al-Aama, J, Alharthi, S, Xu, Y, Wheway, G, Szymanska, K, McKibbin, M, Inglehearn, CF, Elliott, DJ, Lindsay, S, Ali, RR, Steel, DH, Armstrong, L, Sernagor, E, Urlaub, H, Pierce, E, Luehrmann, R, Grellscheid, S-N, Johnson, CA, Lako, M

المصدر: Nature Communications , 9 , Article 4234. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10091536/1/s41467-018-06448-y.pdf; https://discovery.ucl.ac.uk/id/eprint/10091536/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10091536/1/s41467-018-06448-y.pdf
https://discovery.ucl.ac.uk/id/eprint/10091536/

المؤلفون: Thompson, H.L., Shen, W., Matus, R., Kakkar, M., Jones, C., Dolan, D., Grellscheid, S., Yang, X., Zhang, N., Mozaffari-Jovin, S., Chen, C., Zhang, X., Topping, J.F., Lindsey, K.

المصدر: BioRxiv, 2022

وصف الملف: application/pdf

Relation: dro:37537; http://dro.dur.ac.uk/37537/; https://doi.org/10.1101/2022.11.23.517632; http://dro.dur.ac.uk/37537/1/37537.pdf

الاتاحة: http://dro.dur.ac.uk/37537/
http://dro.dur.ac.uk/37537/1/37537.pdf
https://doi.org/10.1101/2022.11.23.517632

المؤلفون: Lako, M, Buskin, A, Zhu, L, Chichagova, V, Basu, B, Mozaffari-Jovin, S, Dolan, D, Droop, A, Collin, J, Hilgen, G, Armstrong, L, Sernagor, E, Luehrmann, R, Grellscheid, S-N, Johnson, C

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/137129/1/Human%20iPSC-derived%20RPE%20and%20retinal%20organoids%20_%20IOVS%20_%20ARVO%20Journals.pdf; Lako, M, Buskin, A, Zhu, L et al. (12 more authors) (2018) Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa. In: Investigative Ophthalmology & Visual Science. ARVO Annual Meeting 2018, 29 Apr - 03 May 2018, Honolulu, Hawaii, USA. Association for Research in Vision and Ophthalmology .

الاتاحة: https://eprints.whiterose.ac.uk/137129/
https://eprints.whiterose.ac.uk/137129/1/Human%20iPSC-derived%20RPE%20and%20retinal%20organoids%20_%20IOVS%20_%20ARVO%20Journals.pdf
https://iovs.arvojournals.org/article.aspx?articleid=2689969

المؤلفون: Absmeier, E., Wollenhaupt, J., Mozaffari-Jovin, S., Becke, C., Lee, C., Preussner, M., Heyd, F., Urlaub, H., Lührmann, R., Santos, K., Wahl, M.

المصدر: Genes and Development

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: http://hdl.handle.net/11858/00-001M-0000-0029-4327-2; http://hdl.handle.net/11858/00-001M-0000-0029-4329-D; http://hdl.handle.net/11858/00-001M-0000-0029-432A-B

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0029-4327-2
http://hdl.handle.net/11858/00-001M-0000-0029-4329-D
http://hdl.handle.net/11858/00-001M-0000-0029-432A-B

المؤلفون: Warkocki, Z., Schneider, C., Mozaffari-Jovin, S., Schmitzova, J., Höbartner, C., Fabrizio, P., Lührmann, R.

المصدر: Genes and Development

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0024-6859-E; http://hdl.handle.net/11858/00-001M-0000-0024-685B-A; http://hdl.handle.net/11858/00-001M-0000-0024-6866-0

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0024-6859-E
http://hdl.handle.net/11858/00-001M-0000-0024-685B-A
http://hdl.handle.net/11858/00-001M-0000-0024-6866-0

المؤلفون: Liu, S., Mozaffari-Jovin, S., Wollenhaupt, J., Santos, , K., Theuser, M., Dunin-Horkawicz, S., Fabrizio, P., Bujnicki, J., Lührmann, R., Wahl, M.

المصدر: eLife

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0027-F4EF-2; http://hdl.handle.net/11858/00-001M-0000-0027-F4FB-6

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0027-F4EF-2
http://hdl.handle.net/11858/00-001M-0000-0027-F4FB-6

المؤلفون: Mozaffari-Jovin, S., Wandersleben, T., Santos, K., Will, C., Lührmann, R., Wahl, M.

المصدر: RNA Biology

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0019-BE00-8; http://hdl.handle.net/11858/00-001M-0000-0019-BE03-2; http://hdl.handle.net/11858/00-001M-0000-0019-BE04-F

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0019-BE00-8
http://hdl.handle.net/11858/00-001M-0000-0019-BE03-2
http://hdl.handle.net/11858/00-001M-0000-0019-BE04-F