المؤلفون: Cvetkovic, Milos A., Passaretti, Paolo, Butryn, Agata, Reynolds-Winczura, Alicja, Kingsley, Georgia, Skagia, Aggeliki, Fernandez-Cuesta, Cyntia, Poovathumkadavil, Divyasree, George, Roger, Chauhan, Anoop S., Jhujh, Satpal S., Stewart, Grant S., Gambus, Agnieszka, Costa, Alessandro

المساهمون: H2020 Marie Skłodowska-Curie Actions, Medical Research Council, Biotechnology and Biological Sciences Research Council, Wellcome Trust, Cancer Research UK, European Research Council, Horizon 2020, Horizon 2020 Framework Programme

المصدر: Molecular Cell ; volume 83, issue 22, page 4017-4031.e9 ; ISSN 1097-2765

مصطلحات موضوعية: Cell Biology, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.molcel.2023.09.029Test
https://api.elsevier.com/content/article/PII:S109727652300761X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109727652300761X?httpAccept=text/plainTest

المؤلفون: Datta, Arindam, Sommers, Joshua A., Jhujh, Satpal S., Harel, Tamar, Stewart, Grant S., Brosh, Robert M.

المساهمون: National Institute on Aging, National Institutes of Health

المصدر: Ageing Research Reviews ; volume 86, page 101887 ; ISSN 1568-1637

مصطلحات موضوعية: Neurology, Molecular Biology, Aging, Biochemistry, Biotechnology

الإتاحة: https://doi.org/10.1016/j.arr.2023.101887Test
https://api.elsevier.com/content/article/PII:S1568163723000466?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1568163723000466?httpAccept=text/plainTest

المؤلفون: Chauhan, Anoop S.¹, Jhujh, Satpal S.¹, Stewart, Grant S.¹ g.s.stewart@bham.ac.uk

المصدر: Biochemical Journal. 7/15/2024, Vol. 481 Issue 14, p923-944. 22p.

المؤلفون: Grange, Laura J, Reynolds, John J, Ullah, Farid, Isidor, Bertrand, Shearer, Robert F, Latypova, Xenia, Baxley, Ryan M, Oliver, Antony W, Ganesh, Anil, Cooke, Sophie L, Jhujh, Satpal S, McNee, Gavin S, Hollingworth, Robert, Higgs, Martin R, others

وصف الملف: application/pdf

العلاقة: http://sro.sussex.ac.uk/id/eprint/108943/1/s41467-022-34349-8.pdfTest; Grange, Laura J, Reynolds, John J, Ullah, Farid, Isidor, Bertrand, Shearer, Robert F, Latypova, Xenia, Baxley, Ryan M, Oliver, Antony W, Ganesh, Anil, Cooke, Sophie L, Jhujh, Satpal S, McNee, Gavin S, Hollingworth, Robert, Higgs, Martin R and others, (2022) Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. Nature Communications, 13. a6664. ISSN 2041-1723

الإتاحة: https://doi.org/10.1038/s41467-022-34349-8Test
http://sro.sussex.ac.uk/id/eprint/108943Test/
http://sro.sussex.ac.uk/id/eprint/108943/1/s41467-022-34349-8.pdfTest

المؤلفون: Abu-Libdeh, Bassam, Jhujh, Satpal S, Dhar, Srijita, Sommers, Joshua A, Datta, Arindam, Longo, Gabriel M C, Grange, Laura J, Reynolds, John J, Cooke, Sophie L, McNee, Gavin S, Hollingworth, Robert, Woodward, Beth L, Ganesh, Anil N, Smerdon, Stephen J, Nicolae, Claudia M, Durlacher-Betzer, Karina, Molho-Pessach, Vered, Abu-Libdeh, Abdulsalam, Meiner, Vardiella, Moldovan, George-Lucian, Roukos, Vassilis, Harel, Tamar, Brosh, Robert M, Stewart, Grant S

وصف الملف: text

العلاقة: https://publications.aston.ac.uk/id/eprint/45211/1/B_Abu_Libdeh_et_al_RECON_syndrome_genome_instability_disorder_mutations_in_DNA_helicase_RECQL1.pdfTest; Abu-Libdeh, Bassam, Jhujh, Satpal S, Dhar, Srijita, Sommers, Joshua A, Datta, Arindam, Longo, Gabriel M C, Grange, Laura J, Reynolds, John J , Cooke, Sophie L, McNee, Gavin S, Hollingworth, Robert, Woodward, Beth L, Ganesh, Anil N, Smerdon, Stephen J, Nicolae, Claudia M, Durlacher-Betzer, Karina, Molho-Pessach, Vered, Abu-Libdeh, Abdulsalam, Meiner, Vardiella, Moldovan, George-Lucian, Roukos, Vassilis, Harel, Tamar, Brosh, Robert M and Stewart, Grant S (2022). RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1. Journal of Clinical Investigation, 132 (5)

الإتاحة: https://publications.aston.ac.uk/id/eprint/45211Test/
https://publications.aston.ac.uk/id/eprint/45211/1/B_Abu_Libdeh_et_al_RECON_syndrome_genome_instability_disorder_mutations_in_DNA_helicase_RECQL1.pdfTest

المؤلفون: Lappin, Katrina M, Barros, Eliana M, Jhujh, Satpal S, Irwin, Gareth W, McMillan, Hayley, Liberante, Fabio G, Latimer, Cheryl, LaBonte, Melissa J, Mills, Ken I, Harkin, D Paul, Stewart, Grant S, Savage, Kienan I

المصدر: Lappin , K M , Barros , E M , Jhujh , S S , Irwin , G W , McMillan , H , Liberante , F G , Latimer , C , LaBonte , M J , Mills , K I , Harkin , D P , Stewart , G S & Savage , K I 2022 , ' Cancer-Associated SF3B1 Mutations Confer a BRCA-Like Cellular Phenotype and Synthetic Lethality to PARP Inhibitors ' , Cancer Research , vol. 82 , no. 5 , pp. 819-830 . https://doi.org/10.1158/0008-5472.CAN-21-1843Test

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.qub.ac.uk/en/publications/ad8009d1-6b8d-4276-af5c-1106f486ea0bTest

الإتاحة: https://doi.org/10.1158/0008-5472.CAN-21-1843Test
https://pure.qub.ac.uk/en/publications/ad8009d1-6b8d-4276-af5c-1106f486ea0bTest
https://pureadmin.qub.ac.uk/ws/files/302244306/819.pdfTest

المؤلفون: Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á., Chupp, Sharon, Mathew, Christopher G., Parry, David

المصدر: Nature Communications; 11/4/2022, Vol. 13 Issue 1, p1-22, 22p

مصطلحات موضوعية: MOSAICISM, DNA structure, EMBRYOLOGY, CHROMOSOMES, CELL division, DNA replication, SHORT stature, DNA repair