Showing the latest 443 publications
Publications 391-400 of 443
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Integrated genome-scale analysis of the transcriptional regulatory landscape in a blood stem/progenitor cell model
Wilson, N., Schoenfelder, S., Hannah, R., Sánchez Castillo, M., Schütte, J., Ladopoulos, V., et al.
Blood
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Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture
Stritt, S., Nurden, P., Favier, R., Favier, M., Ferioli, S., Gotru, S., et al.
Nature Communications
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Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
Greene, D., Richardson, S., Turro, E.
American Journal of Human Genetics
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A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
Turro, E., Greene, D., Wijgaerts, A., Thys, C., Lentaigne, C., Bariana, T., et al.
Science Translational Medicine
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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140
Hull, S., Owen, N., Islam, F., Tracey-White, D., Plagnol, V., Holder, G., et al.
Investigative Ophthalmology & Visual Science
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Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans
Ba-Abbad, R., Arno, G., Carss, K., Stirrups, K., Penkett, C., Moore, A., et al.
Ophthalmology
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Further studies of the down-regulation by Factor I of the C3b feedback cycle using endotoxin as a soluble activator and red cells as a source of CR1 on sera of different complotype
Lachmann, P., Lay, E., Seilly, D., Buchberger, A., Schwaeble, W., Khadake, J.
Clinical and Experimental Immunology
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Complotype affects the extent of down-regulation by Factor I of the C3b feedback cycle in vitro
Lay, E., Nutland, S., Smith, J., Hiles, I., Smith, R., Seilly, D., et al.
Clinical and Experimental Immunology
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Widespread seasonal gene expression reveals annual differences in human immunity and physiology
Dopico, X., Evangelou, M., Ferreira, R., Guo, H., Pekalski, M., Smyth, D., et al.
Nature Communications
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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
Westbury, S., Turro, E., Greene, D., Lentaigne, C., Kelly, A., Bariana, T., et al.
Genome Medicine