Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Alexander M R, Taylor"'
Autor:
Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.
Externí odkaz:
https://doaj.org/article/bfe3845b80824c5996d10d21e1575e9d
Autor:
Nienke J H, van Os, Luciana, Chessa, Corry M R, Weemaes, Marcel, van Deuren, Alice, Fiévet, Judith, van Gaalen, Nizar, Mahlaoui, Nel, Roeleveld, Christoph, Schrader, Detlev, Schindler, Alexander M R, Taylor, Bart P C, Van de Warrenburg, Thilo, Dörk, Michèl A A P, Willemsen
Publikováno v:
Journal of medical genetics. 56(5)
Ataxia telangiectasia (A-T) is a neurodegenerative disorder. While patients with classic A-T generally die in their 20s, some patients with variant A-T, who have residual ataxia-telangiectasia mutated (ATM) kinase activity, have a milder phenotype. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::60e23f9c7f66504706133dbb79bf17e5
https://pubmed.ncbi.nlm.nih.gov/30819809
https://pubmed.ncbi.nlm.nih.gov/30819809
Autor:
Tatjana Stankovic, Grant S. Stewart, Christopher Fegan, Paul Biggs, James Last, Philip J. Byrd, Russell D. Keenan, Paul A. H. Moss, Alexander M. R. Taylor
Publikováno v:
Blood. 99(1)
B-cell chronic lymphocytic leukemia (B-CLL) is a heterogeneous disease involving more than one molecular mechanism that leads to the transformation of CD5+ B cells at either the pregerminal or postgerminal center stage of differentiation. It was prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625e10c7a556ded87b2882433ae9d566
https://pubmed.ncbi.nlm.nih.gov/11756185
https://pubmed.ncbi.nlm.nih.gov/11756185
Publikováno v:
Biochemical and Biophysical Research Communications. 102:610-616
Summary Exposure of fibroblast and lymphoblastoid cell lines from normal subjects to bleomycin (30–300 μg/ml) results in a dose dependent biphasic inhibition of DNA synthesis when compared with untreated cells. Using alkaline sucrose density gradi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e771d2fc43232019abcf2238290c9e2f
https://doi.org/10.1016/s0006-291x(81)80175-1
https://doi.org/10.1016/s0006-291x(81)80175-1
Publikováno v:
Nature. 287:745-747
Poly (ADP-ribose) polymerase is a eukaryotic chromosomal enzyme which utilizes the ADP-ribose moiety of NAD to synthesize the nucleic acid homopolymer (ADP-ribose)n (ref. 1). The precise function of (ADP-ribose)n has not been fully established althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f74ebc6370659bb36c70d53f8115b01e
https://doi.org/10.1038/287745a0
https://doi.org/10.1038/287745a0
Publikováno v:
Advances in Human Genetics 9 ISBN: 9781461582786
While it would be satisfying to find that the same cellular process, or even a group of closely related processes, leads to the development of neoplasia, there is no necessity to believe that such a common pathway exists, since cancer includes many d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25df45fc9e8daa74dc97c57141593eb1
https://doi.org/10.1007/978-1-4615-8276-2_1
https://doi.org/10.1007/978-1-4615-8276-2_1
Publikováno v:
Advances in Human Genetics 9 ISBN: 9781461582786
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c22bb04b04e0a61aa70eca39dbe79d4
https://doi.org/10.1007/978-1-4615-8276-2_6
https://doi.org/10.1007/978-1-4615-8276-2_6