Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Richard McKeone"'
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e25489 (2011)
Anterior segment dysgenesis (ASD) is characterised by an abnormal migration of neural crest cells or an aberrant differentiation of the mesenchymal cells during the formation of the eye's anterior segment. These abnormalities result in multiple tissu
Externí odkaz:
https://doaj.org/article/b1817023a18a4b029aebcec77623b730
Autor:
Paul Denny, Shoumo Bhattacharya, Andy Greenfield, Patrick M. Nolan, Jiannis Ragoussis, Gimara Duncan, Kulvinder Kaur, Andrea Hardy, Richard McKeone, Ramya Chandrasekara, Matthew Cadman, Steve D.M. Brown, Anju Paudyal, Jennifer R. Davies, Jürgen E. Schneider, Michael J. Depew, Paul T. Sharpe, Ruth M. Arkell, Nikos Tripodis, Ghazala Mirza, Debora Bogani, Heather Haines, Catherine Willoughby, Guido E Pieles
Publikováno v:
Proceedings of the National Academy of Sciences. 102:12477-12482
Monosomy of the human chromosome 6p terminal region results in a variety of congenital malformations that include brain, craniofacial, and organogenesis abnormalities. To examine the genetic basis of these phenotypes, we have carried out an unbiased
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a4b03b9fcf7fb97228753106e22043
https://doi.org/10.1073/pnas.0500584102
https://doi.org/10.1073/pnas.0500584102
Autor:
Marc Botcherby, Joseph Weekes, Paul Denny, John M. Hancock, James G. R. Gilbert, Sandrine Peyrefitte, Laurens G. Wilming, Jane Rogers, Steve D.M. Brown, Ruth M. Arkell, Ann-Marie Mallon, Jennifer L. Ashurst, Matthew Cadman, Lucy Matthews, Richard McKeone, Mark A. Strivens, Christopher A. Sellick, R. Duncan Campbell, Simon G. Gregory
Publikováno v:
Genome Research. 14:1888-1901
The Del(13)Svea36H mutation (referred to hereafter as Del36H) is a microscopically visible deletion of ∼20% of mouse chromosome 13 (Arkell et al. 2001). Mice that are heterozygous for Del36H display a phenotype that varies with genetic background a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::616405a28e5324baac5d36940ae87da9
https://doi.org/10.1101/gr.2478604
https://doi.org/10.1101/gr.2478604
Autor:
David Edwards, Lucie Vizor, Shelly Fuller, Emma Horner, Saffron Brady, Nicholas J. Parkinson, David I. Campbell, Emma L. Coghill, Richard McKeone, Zuzanna Lalanne, Steve D.M. Brown, Roger D. Cox, Pete Glenister, Ann F. C. Roberts, Susan Rodger, David A. Keays, Andy Greenfield, Nigel K. Spurr, Jessica Weedon, Alison Hugill, Mohamed M. Quwailid, Sara Wells, Ian C. Gray, Paul Woodman, Samuel G. Cox, John Willan, Jackie Hunter, Hamish McMath, Neil Dear, Joanne Carey
Publikováno v:
Mammalian Genome. 15:585-591
N-ethyl-N-nitrosourea (ENU) introduces mutations throughout the mouse genome at relatively high efficiency. Successful high-throughput phenotype screens have been reported and alternative screens using sequence-based approaches have been proposed. Fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b742dee89b0077868053fb0b867080
https://doi.org/10.1007/s00335-004-2379-z
https://doi.org/10.1007/s00335-004-2379-z
Autor:
Jiannis Ragoussis, Phillip I. Bird, Dion Kaiserman, Ghazala Mirza, Richard McKeone, Jessica Cooley, Susan Knaggs, Anneliese Gillard, Paul Denny, Charaf Benarafa, Katrina L Scarff, Eileen Remold-O'Donnell, Matthew Cadman
Publikováno v:
Genomics. 79:349-362
Ov-serpins are intracellular proteinase inhibitors implicated in the regulation of tumor progression, inflammation, and cell death. The 13 human ov-serpin genes are clustered at 6p25 (3 genes) and 18q21 (10 genes), and share common structures. We sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cebd6b60ad5660b5b5aed288ec72eaaa
https://doi.org/10.1006/geno.2002.6716
https://doi.org/10.1006/geno.2002.6716
Autor:
Nicolette, Binz, Ireni S, Ali Rahman, Holly R, Chinnery, Richard, McKeone, Ken M, Simpson, Terence P, Speed, Chooi-May, Lai, P Elizabeth, Rakoczy
Publikováno v:
Clinicalexperimental ophthalmology. 41(3)
The Kimba mouse carries a human vascular endothelial growth factor transgene causing retinal neovascularisation similar to that seen in diabetic retinopathy. Here, we examine the relationship between differential gene expression induced by vascular e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::703647b3b15a5ed409ba5bfa92040c85
https://pubmed.ncbi.nlm.nih.gov/22788671
https://pubmed.ncbi.nlm.nih.gov/22788671
Publikováno v:
Journal of molecular biology. 405(2)
Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited diseases that result in progressive retinal degeneration, characterized by visual field constriction and night blindness. A total of 103 mutations in rhodopsin are linked to RP to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb62efd3beef318b2a528e558be84eb
https://pubmed.ncbi.nlm.nih.gov/21094163
https://pubmed.ncbi.nlm.nih.gov/21094163