PubMed:15987957 / 469-684 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T3","span":{"begin":0,"end":215},"obj":"Sentence"},{"id":"T3","span":{"begin":0,"end":215},"obj":"Sentence"},{"id":"T3","span":{"begin":0,"end":215},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"GlycoBiology-GDGDB","denotations":[{"id":"_T3","span":{"begin":24,"end":27},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385"},{"id":"_T4","span":{"begin":24,"end":27},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386"},{"id":"_T5","span":{"begin":185,"end":188},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00385"},{"id":"_T6","span":{"begin":185,"end":188},"obj":"http://acgg.asia/db/diseases/gdgdb?con_ui=CON00386"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"uniprot-human","denotations":[{"id":"T5","span":{"begin":24,"end":27},"obj":"http://www.uniprot.org/uniprot/F5H499"},{"id":"T6","span":{"begin":185,"end":188},"obj":"http://www.uniprot.org/uniprot/F5H499"},{"id":"T13","span":{"begin":32,"end":35},"obj":"http://www.uniprot.org/uniprot/Q04656"},{"id":"T14","span":{"begin":193,"end":196},"obj":"http://www.uniprot.org/uniprot/Q04656"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"GO-BP","denotations":[{"id":"T6","span":{"begin":3,"end":12},"obj":"http://purl.obolibrary.org/obo/GO_0032502"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"EDAM-topics","denotations":[{"id":"T3","span":{"begin":153,"end":162},"obj":"http://edamontology.org/topic_0199"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15987957-2#24#27#gene10020","span":{"begin":24,"end":27},"obj":"gene10020"},{"id":"15987957-2#185#188#gene10020","span":{"begin":185,"end":188},"obj":"gene10020"},{"id":"15987957-2#129#133#diseaseC1853926","span":{"begin":129,"end":133},"obj":"diseaseC1853926"}],"relations":[{"id":"24#27#gene10020129#133#diseaseC1853926","pred":"associated_with","subj":"15987957-2#24#27#gene10020","obj":"15987957-2#129#133#diseaseC1853926"},{"id":"185#188#gene10020129#133#diseaseC1853926","pred":"associated_with","subj":"15987957-2#185#188#gene10020","obj":"15987957-2#129#133#diseaseC1853926"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":24,"end":27},"obj":"gene:10020"},{"id":"T1","span":{"begin":129,"end":133},"obj":"disease:C1853926"},{"id":"T2","span":{"begin":185,"end":188},"obj":"gene:10020"},{"id":"T3","span":{"begin":129,"end":133},"obj":"disease:C1853926"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"mondo_disease","denotations":[{"id":"T5","span":{"begin":32,"end":35},"obj":"Disease"},{"id":"T6","span":{"begin":129,"end":133},"obj":"Disease"},{"id":"T7","span":{"begin":193,"end":196},"obj":"Disease"}],"attributes":[{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0010651"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0007827"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0010651"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":99,"end":110},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL_0000057"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}

{"project":"CL-cell","denotations":[{"id":"T1","span":{"begin":99,"end":110},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0000057"}],"text":"We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured fibroblasts of patients, with HIBM harboring missense mutations in either or both the GNE and MNK enzymatic domains."}