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All rights reserved. http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://purl.org/dc/elements/1.1/title BEL Framework Large Corpus Document http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://purl.org/pav/authoredBy http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#_4 http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://purl.org/pav/version 20131211 http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#_3 http://www.w3.org/ns/prov#value Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency. Accumulation of phenylalanine leads to severe mental and psychomotor retardation, and hypopigmentation of skin and hair...Our data indicated that 12 genes were significantly up-regulated in PKU. Four are involved in defense and inflammatory responses of neutrophils (NE, MPO, NGP, and CRAMP), three other overexpressed genes are related to extracellular matrix organization and degradation (COL1A1, COL1A2, and MMP13); the remainder were a nociceptor in sensory neurons (MrgA1), a structural gene of P lysozyme (Lzp-s), an immunoglobulin alpha heavy chain constant region gene (Igh-2), an osteocalcin-related protein precursor (Bglap-rs1), and a membrane-spanning 4 domain, subfamily A, member 3 (Ms4a3). http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#_3 http://www.w3.org/ns/prov#wasQuotedFrom http://www.ncbi.nlm.nih.gov/pubmed/16150627 http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#_4 http://www.w3.org/2000/01/rdf-schema#label Selventa http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#assertion http://www.w3.org/ns/prov#hadPrimarySource http://www.ncbi.nlm.nih.gov/pubmed/16150627 http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#_3 http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc#pubinfo http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc http://purl.org/dc/terms/created 2014-07-03T14:32:50.046+02:00 http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc http://purl.org/pav/createdBy http://orcid.org/0000-0001-6818-334X http://www.tkuhn.ch/bel2nanopub/RAGDR88fbHkoFHj0vFdR8YnMNS7Ue73ldKUdONs7ptWrc http://purl.org/pav/createdBy http://orcid.org/0000-0002-1267-0234