Joint and muscle pain with mononeuritis multiplex, tetraparesis, and myocardial infarction in a previously healthy adult.

Détails

ID Serval
serval:BIB_1071CB06EA4C
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Joint and muscle pain with mononeuritis multiplex, tetraparesis, and myocardial infarction in a previously healthy adult.
Périodique
Annals of the Rheumatic Diseases
Auteur(s)
Wagner A.D., Feist T., Prondzinsky R., Fleig W.E., Keysser G.
ISSN
0003-4967 (Print)
ISSN-L
0003-4967
Statut éditorial
Publié
Date de publication
2001
Peer-reviewed
Oui
Volume
60
Numéro
11
Pages
1003-1006
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Open Access
Oui
Création de la notice
16/02/2016 18:25
Dernière modification de la notice
20/08/2019 13:37
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