Kim M Summers
Affiliation: University of Edinburgh
- Dogslife: a web-based longitudinal study of Labrador Retriever health in the UKDylan N Clements
Royal Dick School of Veterinary Studies, University of Edinburgh, Rosli, Scotland
BMC Vet Res 9:13. 2013..The study has been designed to examine how environmental and genetic factors influence the health and development of a birth cohort of UK-based pedigree Labrador Retrievers...
- Recent developments in the diagnosis of Marfan syndrome and related disordersKim M Summers
The Roslin Institute and Royal Dick School of Veterinary Studies, University of Edinburgh, Edinburgh, UK
Med J Aust 197:494-7. 2012..Several clinical trials of drug therapy, including the antihypertensive drug losartan, are in progress...
- Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3Kim M Summers
Roslin Institute, University of Edinburgh, Roslin, Midlothian, UK
Mol Vis 14:2010-5. 2008..This study reports the examination of PITX3 in this Australian family...
- Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndromeKim M Summers
The Roslin Institute, University of Edinburgh, Midlothian, UK
Eur J Hum Genet 18:1209-15. 2010..Promoter analysis of this gene set identified several candidate transcriptional regulators. Genes within this co-expressed cluster are candidate genetic modifiers for Marfan syndrome and for other connective tissue diseases...
- Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1Kim M Summers
The University of Edinburgh, The Roslin Institute and Royal Dick School of Veterinary Studies, Roslin, Midlothian EH25 9PS, UK
Genomics 94:233-40. 2009..Understanding the regulation of the FBN1 gene may lead to alternative therapeutic strategies for Marfan syndrome...
- Functional clustering and lineage markers: insights into cellular differentiation and gene function from large-scale microarray studies of purified primary cell populationsDavid A Hume
The Roslin Institute, Roslin Biocentre, Roslin, Midlothian, UK
Genomics 95:328-38. 2010..We discuss the limitations placed upon such data by the presence of alternative promoters with distinct tissue specificity within many protein-coding genes...
- A gene expression atlas of the domestic pigTom C Freeman
The Roslin Institute and Royal Dick School of Veterinary Studies, University of Edinburgh, Easter Bush, EH25 9PS, UK
BMC Biol 10:90. 2012..The new array was used to generate a genome-wide expression atlas of pig tissues derived from 62 tissue/cell types. These data were subjected to network correlation analysis and clustering...
- Population structure and genetic heterogeneity in popular dog breeds in the UKRichard J Mellanby
Roslin Institute and Royal Dick School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian EH25 9RG, UK
Vet J 196:92-7. 2013..The least distinct group contained crossbred dogs. The results show that the registered breeds are subject to a 'breed barrier' which promotes reduction in genetic diversity...
- Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testingKim M Summers
The Roslin Institute and Royal Dick School of Veterinary Studies, The University of Edinburgh, Midlothian, Scotland, UK
Am J Med Genet A 152:613-21. 2010....
- Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseasesMargaret R Davis
The Roslin Institute and Royal Dick School of Veterinary Studies, The University of Edinburgh, Easter Bush, Midlothian, EH25 9RG, UK
Mol Genet Metab 107:635-47. 2012....
- Expression of mesenchyme-specific gene signatures by follicular dendritic cells: insights from the meta-analysis of microarray data from multiple mouse cell populationsNeil A Mabbott
The Roslin Institute and Royal Dick School of Veterinary Sciences, University of Edinburgh, Easter Bush, Midlothian, UK
Immunology 133:482-98. 2011..Together, these data suggest FDC are a specialized mesenchymal cell population within the germinal centres of lymphoid tissues...
- Genome-wide analysis of mitral valve disease in Cavalier King Charles SpanielsAnne T French
Royal Dick School of Veterinary Studies, The University of Edinburgh, Easter Bush, Roslin, Midlothian EH25 9RG, UK
Vet J 193:283-6. 2012....