Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Nicola Y. Roberts"'
Autor:
Katherine V. Sadler, Charlie F. Rowlands, Philip T. Smith, Claire L. Hartley, Naomi L. Bowers, Nicola Y. Roberts, Jade L. Harris, Andrew J. Wallace, D. Gareth Evans, Ludwine M. Messiaen, Miriam J. Smith
Publikováno v:
Human Mutation. 43:643-654
Missense variants in the NF2 gene result in variable NF2 disease presentation. Clinical classification of missense variants often represents a challenge, due to lack of evidence for pathogenicity and function. This study provides a summary of NF2 mis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::099e3594389d642b306ea5ddadb14c36
https://doi.org/10.1002/humu.24370
https://doi.org/10.1002/humu.24370
Publikováno v:
Cytogenetic and Genome Research. 124:193-201
The ends of linear eukaryotic chromosomes are protected by the telomere, a specialised nucleoprotein complex. The primary role of the telomere is to protect the chromosome ends from being degraded or recognised and processed as double strand breaks.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c8187d3192aa358a3edab8272d26057
https://doi.org/10.1159/000218125
https://doi.org/10.1159/000218125
Autor:
Nicola Y. Roberts, Wanda M. Waterworth, Clifford F. Weil, Christopher E. West, Philip J. Dean, Kim Young, Susan J. Armstrong, Cagla Altun, Clifford M. Bray
Publikováno v:
The Plant Journal. 52:41-52
The ability of plants to repair DNA double-strand breaks (DSBs) is essential for growth and fertility. The Arabidopsis DSB repair proteins AtRAD50 and AtMRE11 form part of an evolutionarily conserved complex that, in Saccharomyces cerevisiae and mamm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::406dfccb2c5aac3602f9a7e8cb795604
https://doi.org/10.1111/j.1365-313x.2007.03220.x
https://doi.org/10.1111/j.1365-313x.2007.03220.x
Autor:
W. Kling Chong, Michael Pike, Stewart Boyd, Kate Baker, Sarah L. Gordon, Detelina Grozeva, Margriet van Kogelenberg, Matthew E. Hurles, F. Lucy Raymond, Edward Blair, Nicola Y. Roberts, Manju A. Kurian, Michael A. Cousin, Torsten Baldeweg
Publikováno v:
Baker, K, Gordon, S L, Grozeva, D, van Kogelenberg, M, Roberts, N Y, Pike, M, Blair, E, Hurles, M E, Chong, W K, Baldeweg, T, Kurian, M A, Boyd, S G, Cousin, M A & Raymond, F L 2015, ' Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling ', Journal of Clinical Investigation, vol. 125, no. 4, pp. 1670-8 . https://doi.org/10.1172/JCI79765
Synaptotagmin-1 (SYT1) is a calcium-binding synaptic vesicle protein that is required for both exocytosis and endocytosis. Here, we describe a human condition associated with a rare variant in SYT1. The individual harboring this variant presented wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a15ec3269cfdafafdf8f8ad9e2f1fd47
https://pubmed.ncbi.nlm.nih.gov/25705886
https://pubmed.ncbi.nlm.nih.gov/25705886