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: Sanchez-Bailon, Maria Pilar, Choi, Soo Youn, Dufficy, Elizabeth R., Sharma, Karan, McNee, Gavin S., Gunnell, Emma, Chiang, Kelly, Sahay, Debashish, Maslen, Sarah, Stewart, Grant S., Skehel, J. Mark, Dreveny, Ingrid, Davies, Clare C.

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry

العلاقة: https://nottingham-repository.worktribe.com/output/6681867Test; Nature Communications; Volume 12; Issue 1; https://nottingham-repository.worktribe.com/file/6681867/1/S41467-021-26413-6Test

الإتاحة: https://doi.org/10.1038/s41467-021-26413-6Test
https://nottingham-repository.worktribe.com/file/6681867/1/S41467-021-26413-6Test
https://nottingham-repository.worktribe.com/output/6681867Test

المؤلفون: Zhang, Jing, Bellani, Marina A, James, Ryan C, Pokharel, Durga, Zhang, Yongqing, Reynolds, John J, McNee, Gavin S, Jackson, Andrew P, Stewart, Grant S, Seidman, Michael M

وصف الملف: text

العلاقة: https://publications.aston.ac.uk/id/eprint/45212/1/Zhang_Bellani_et_al_DONSON_FANCM_associate_with_different_replisomes.pdfTest; Zhang, Jing, Bellani, Marina A, James, Ryan C, Pokharel, Durga, Zhang, Yongqing, Reynolds, John J , McNee, Gavin S, Jackson, Andrew P, Stewart, Grant S and Seidman, Michael M (2020). DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain. Nature Communications, 11 (1)

الإتاحة: https://publications.aston.ac.uk/id/eprint/45212Test/
https://publications.aston.ac.uk/id/eprint/45212/1/Zhang_Bellani_et_al_DONSON_FANCM_associate_with_different_replisomes.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

المؤلفون: Wakelam, Michael J.O., McNee, Gavin S., Rudge, Simon A.

المصدر: Advances in Enzyme Regulation ; volume 50, issue 1, page 57-61 ; ISSN 0065-2571

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.advenzreg.2009.10.032Test
https://api.elsevier.com/content/article/PII:S0065257109000892?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0065257109000892?httpAccept=text/plainTest

المؤلفون: McNee, Gavin Scott

الإتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611445Test