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Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity (2018)
Journal Article
Schurink, A., da Silva, V. H., Velie, B. D., Dibbits, B. W., Crooijmans, R. P., Franҫois, L., …Ducro, B. J. (2018). Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity. BMC Genetics, 19, doi:10.1186/s12863-018-0657-0

Background: Many common and relevant diseases affecting equine welfare have yet to be tested regarding structural variants such as copy number variations (CNVs). CNVs make up a substantial proportion of total genetic variability in populations of man... Read More

The fecal metabolome as a functional readout of the gut microbiome (2018)
Journal Article
Zierer, J., Jackson, M. A., Kastenmüller, G., Mangino, M., Long, T., Telenti, A., …Menni, C. (2018). The fecal metabolome as a functional readout of the gut microbiome. Nature Genetics, 50(6), 790-795. doi:10.1038/s41588-018-0135-7

The human gut microbiome plays a key role in human health1, but 16S characterization lacks quantitative functional annotation2. The fecal metabolome provides a functional readout of microbial activity and can be used as an intermediate phenotype medi... Read More

Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation (2017)
Journal Article
Ueda, Y., Mohammed, I., Song, D., Gullipalli, D., Zhou, L., Sato, S., …Song, W. (2017). Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation. Blood, 129(9), (1184-1196). doi:10.1182/blood-2016-07-728253. ISSN 0006-4971

Complement plays a key role in host defense, but its dysregulation can cause autologous tissue injury. Complement activation is normally controlled by regulatory proteins, including factor H (FH) in plasma and membrane cofactor protein (MCP) on the c... Read More