Titre
Joint and muscle pain with mononeuritis multiplex, tetraparesis, and myocardial infarction in a previously healthy adult.
Type
étude de cas
Institution
Externe
Périodique
Auteur(s)
Wagner, A.D.
Auteure/Auteur
Feist, T.
Auteure/Auteur
Prondzinsky, R.
Auteure/Auteur
Fleig, W.E.
Auteure/Auteur
Keysser, G.
Auteure/Auteur
Liens vers les personnes
ISSN
0003-4967
Statut éditorial
Publié
Date de publication
2001
Volume
60
Numéro
11
Première page
1003
Dernière page/numéro d’article
1006
Peer-reviewed
Oui
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.
Sujets
PID Serval
serval:BIB_1071CB06EA4C
PMID
Open Access
Oui
Date de création
2016-02-16T16:25:39.778Z
Date de création dans IRIS
2025-05-20T17:44:40Z
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Nom
26833085_BIB_1071CB06EA4C.pdf
Version du manuscrit
published
Licence
https://creativecommons.org/licenses/by/4.0
Taille
2.32 MB
Format
Adobe PDF
PID Serval
serval:BIB_1071CB06EA4C.P001
Somme de contrôle
(MD5):889f79ac2e4b7ada8ac0708bb23b88da