المؤلفون: Kurzawa-Akanbi M, Whitfield P, Burte F, Bertelli PM, Pathak V, Doherty M, Hilgen B, Gliaudelyte L, Platt M, Queen R, Coxhead J, Porter A, Oberg M, Fabrikova D, Davey T, Beh CS, Georgiou M, Collin J, Boczonadi V, Hartlova A, Taggart M, Al-Aama J, Korolchuk VI, Morris CM, Guduric-Fuchs J, Steel DH, Medina RJ, Armstrong L, Lako M

المصدر: Journal of Extracellular Vesicles, December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/288723; https://eprints.ncl.ac.uk/fulltext.aspx?url=288723/22C0FA3D-DFDE-4BBB-8B9D-5370D7CA0761.pdf&pub_id=288723

الاتاحة: https://eprints.ncl.ac.uk/288723

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: 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: 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: Xie, H, Guo, R, Zhong, H, Feng, Q, Lan, Z, Qin, B, Ward, K, Jackson, M, Xia, Y, Chen, X, Chen, B, Xia, H, Xu, C, Li, F, Xu, X, Al-Aama, J, Yang, H, Wang, J, Kristiansen, K, Steves, C, Bell, J, Li, J, Spector, T, Jia, H

Relation: https://ora.ox.ac.uk/objects/uuid:22483858-baa2-4a85-a7e5-d79370a5a58f; https://doi.org/10.1016/j.cels.2016.10.004

الاتاحة: https://doi.org/10.1016/j.cels.2016.10.004
https://ora.ox.ac.uk/objects/uuid:22483858-baa2-4a85-a7e5-d79370a5a58f

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: Yang C., Al-Aama J., Stojkovic, Miodrag, Keavney, Bernard, Trafford, Andrew, lako, majlinda, armstrong, lyle

المصدر: Stem Cells

وصف الملف: application/pdf

Relation: https://scidar.kg.ac.rs/handle/123456789/11999; 2-s2.0-84940467026

الاتاحة: https://scidar.kg.ac.rs/handle/123456789/11999
https://doi.org/10.1002/stem.2070

المؤلفون: Jiang Y., Habibollah S., Tilgner K., Collin J., Barta, Tomas, Al-Aama J., Tesarov L., Hussain R., Trafford, Andrew, Kirkwood G., Sernagor, Evelyne, Eleftheriou, Cyril, Przyborski S., Stojkovic, Miodrag, lako, majlinda, Keavney, Bernard, armstrong, lyle

المصدر: Stem Cells Translational Medicine

وصف الملف: application/pdf

Relation: https://scidar.kg.ac.rs/handle/123456789/12471; 2-s2.0-84897546322

الاتاحة: https://scidar.kg.ac.rs/handle/123456789/12471
https://doi.org/10.5966/sctm.2013-0105

المؤلفون: Tilgner K., Neganova I., Moreno-gimeno I., Al-Aama J., Burks D., Yung S., Singhapol C., Saretzki G., Evans J., Gorbunova V., Gennery, Andrew, Przyborski S., Stojkovic, Miodrag, armstrong, lyle, Jeggo P., lako, majlinda

المصدر: Cell Death and Differentiation

وصف الملف: application/pdf

Relation: https://scidar.kg.ac.rs/handle/123456789/9476; 2-s2.0-84880318361

الاتاحة: https://scidar.kg.ac.rs/handle/123456789/9476
https://doi.org/10.1038/cdd.2013.44

المؤلفون: Patrinos, GP, Al Aama, J, Al Aqeel, A, Al-Mulla, F, Borg, J, Devereux, A, Felice, AE, Macrae, F, Marafie, MJ, Petersen, MB, Qi, M, Ramesar, RS, Zlotogora, J, Cotton, RGH

Relation: Patrinos, G. P., Al Aama, J., Al Aqeel, A., Al-Mulla, F., Borg, J., Devereux, A., Felice, A. E., Macrae, F., Marafie, M. J., Petersen, M. B., Qi, M., Ramesar, R. S., Zlotogora, J. & Cotton, R. G. H. (2011). Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection. HUMAN MUTATION, 32 (1), pp.2-9. https://doi.org/10.1002/humu.21397.; http://hdl.handle.net/11343/264799

الاتاحة: http://hdl.handle.net/11343/264799

المؤلفون: Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., Basel-Vanagaite, L., Fernandez, B., Greally, M. T., Gillessen-Kaesbach, G., Kayserili, H., Lemyre, E., Tekin, M., Turkmen, S., Tuysuz, B., Yuksel-Konuk, B., Mundlos, S., Van Maldergem, L., Wevers, R. A., Urban, Z.

المصدر: Human Molecular Genetics ; volume 18, issue 12, page 2149-2165 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddp148
http://academic.oup.com/hmg/article-pdf/18/12/2149/1807266/ddp148.pdf

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

المصدر: Frontiers in Cell and Developmental Biology, 28 July 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/276630; https://eprints.ncl.ac.uk/fulltext.aspx?url=276630/F6E21B28-DEAC-4EB2-A291-52AA9F7150E1.pdf&pub_id=276630

الاتاحة: https://eprints.ncl.ac.uk/276630

المؤلفون: Al-Aama, J., Mahdi, H., Salama, M., Bakur, K., Alhozali, A., Mosli, H., Bahijri, S., Bahieldin, A., Willmitzer, L., Edris, S.

المصدر: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy

Relation: http://hdl.handle.net/21.11116/0000-0005-6C3C-0

الاتاحة: http://hdl.handle.net/21.11116/0000-0005-6C3C-0

المؤلفون: Al-Aama, J., Al Mahdi, H., Salama, M., Bakur, K., Alhozali, A., Mosli, H., Bahijri, S., Bahieldin, A., Elango, R., Willmitzer, L., Edris, S.

المصدر: Biotechnology & Biotechnology Equipment

Relation: http://hdl.handle.net/21.11116/0000-0004-F671-7

الاتاحة: http://hdl.handle.net/21.11116/0000-0004-F671-7

المؤلفون: Dorgau, B, Felemban, M, Hilgen, G, Kiening, M, Zerti, D, Hunt, Nc, Doherty, M, Whitfield, P, Hallam, D, White, K, Ding, Y, Krasnogor, N, Al-Aama, J, Asfour, Hz, Sernagor, E, Lako, M

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3983::7c11cded4554746bed24b4124925dfe5
http://hdl.handle.net/11697/157541

المؤلفون: Wren, L, Jiménez-Jáimez, J, Al-Ghamdi, S, Al-Aama, J, Bdeir, A, Al-Hassnan, Z, Kuan, J, Foo, R, Potet, F, Johnson, C, Aziz, M, Carvill, G, Kaski, J, Crotti, L, Perin, F, Monserrat, L, Burridge, P, Schwartz, P, Chazin, W, Bhuiyan, Z, George AL, J, Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL Jr.

مصطلحات الفهرس: arrhythmia, calmodulin, genotype, long QT syndrome, mosaicism, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, BIO/18 - GENETICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/281507
info:eu-repo/semantics/altIdentifier/pmid/31454269
info:eu-repo/semantics/altIdentifier/wos/WOS:000490939600001
volume:12
issue:9
firstpage:375
lastpage:385
numberofpages:11
journal:CIRCULATION

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, Luhrmann R, Grellscheid S-N, Johnson CA, Lako M

المصدر: Nature Communications, 12 October 2018

وصف الملف: application/pdf

الاتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=252404/A075CBCF-EEC1-4DA6-973D-9050C9FBE584.pdf&pub_id=252404

المؤلفون: Bäckhed, Fredrik, 1973, Roswall, Josefine, Peng, Y. Q., Feng, Qing-Ping, Jia, H. J., Kovatcheva-Datchary, Petia, Liu, Y, Xia, Y., Xie, H. L., Zhong, H. Z., Khan, Muhammad Tanweer, Zhang, J. F., Li, J. H., Xiao, L., Al-Aama, J., Zhang, D. Y., Lee, Ying Shiuan, Kotowska, D., Colding, C., Tremaroli, Valentina, 1978, Yin, Y., Bergman, Stefan, Xu, X., Madsen, L., Kristiansen, K., Dahlgren, Jovanna, 1964, Jun, W.

المصدر: Cell Host & Microbe. 17(5):690-703

مصطلحات موضوعية: Pediatrics, Pediatrik, INTESTINAL MICROBIOTA, INFANT GUT, METAGENOME, BACTERIA, MELATONIN, PROTEINS, CHILDREN, NEWBORNS, CATALOG, DISEASE, Microbiology, Parasitology, Virology

URL الوصول: https://gup.ub.gu.se/publication/219470

المؤلفون: Felemban, M, Dorgau, B, Hunt, Nc, Hallam, D, Zerti, D, Bauer, R, Ding, Y, Collin, J, Steel, D, Krasnogor, N, Al-Aama, J, Lindsay, S, Mellough, C, Lako, M.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3983::2a646bbf51ac349056d0245b1c373b08
http://hdl.handle.net/11697/157547