http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#head http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#assertion http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#provenance http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#assertion http://rdf.disgenet.org/resource/gda/DGN4afb6915468305bada486411d32d3185 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2318 http://rdf.disgenet.org/resource/gda/DGN4afb6915468305bada486411d32d3185 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026848 http://rdf.disgenet.org/resource/gda/DGN4afb6915468305bada486411d32d3185 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#provenance http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#assertion http://purl.org/dc/terms/description [Here, we show that KY interacts with several sarcomeric cytoskeletal proteins including, amongst others, filamin C and the slow isoform of the myosin-binding protein C. These interactions were confirmed in vitro and because of its central role in skeletal muscle disease, characterized in more detail for filamin C. A role for KY in regulating filamin C function in vivo is supported by the expression analysis of filamin C in the null ky mouse mutant, where distinct irregular subcellular localization of filamin C was found in subsets of muscle fibres, which appears to be a specific outcome of KY deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15385448 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/dc/terms/created 2017-10-17T13:12:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP408935.RAhvshciQBLCvB_OsveT62XY8l8P-p8Kqg-dazc5LMmUg http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0