Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Joint and muscle pain with mononeuritis multiplex, tetraparesis, and myocardial infarction in a previously healthy adult.
Annals of the Rheumatic Diseases
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Phenome-wide association is a novel reverse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts. Here we test this approach using a large murine population segregating for ∼5 million sequence variants, and we compare our results to those extracted from a matched analysis of gene variants in a large human cohort. For the mouse cohort, we amassed a deep and broad open-access phenome consisting of ∼4,500 metabolic, physiological, pharmacological and behavioural traits, and more than 90 independent expression quantitative trait locus (QTL), transcriptome, proteome, metagenome and metabolome data sets-by far the largest coherent phenome for any experimental cohort (www.genenetwork.org). We tested downstream effects of subsets of variants and discovered several novel associations, including a missense mutation in fumarate hydratase that controls variation in the mitochondrial unfolded protein response in both mouse and Caenorhabditis elegans, and missense mutations in Col6a5 that underlies variation in bone mineral density in both mouse and human.
Cyclophosphamide/therapeutic use, Humans, Immunoglobulins, Intravenous/therapeutic use, Immunosuppressive Agents/therapeutic use, Male, Methylprednisolone/therapeutic use, Middle Aged, Mononeuropathies/diagnosis, Mononeuropathies/drug therapy, Myocardial Infarction/diagnosis, Myocardial Infarction/drug therapy, Neuroprotective Agents/therapeutic use, Polyarteritis Nodosa/complications, Polyarteritis Nodosa/diagnosis, Quadriplegia/diagnosis, Quadriplegia/drug therapy, Treatment Outcome
Web of science
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