PubMed:6086605 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":68},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":69,"end":133},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":134,"end":306},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":307,"end":396},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":397,"end":508},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":509,"end":535},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":536,"end":652},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":68},"obj":"Sentence"},{"id":"T2","span":{"begin":69,"end":133},"obj":"Sentence"},{"id":"T3","span":{"begin":134,"end":306},"obj":"Sentence"},{"id":"T4","span":{"begin":307,"end":396},"obj":"Sentence"},{"id":"T5","span":{"begin":397,"end":508},"obj":"Sentence"},{"id":"T6","span":{"begin":509,"end":535},"obj":"Sentence"},{"id":"T7","span":{"begin":536,"end":652},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.\nA base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in beta-globin mRNA production. RNA processing was normal. The -88 beta-thalassemia mutation lends further support for the in vivo role of the distal element in transcription."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":226,"end":237},"obj":"gene:3043"},{"id":"T1","span":{"begin":289,"end":305},"obj":"disease:C0005283"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.\nA base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in beta-globin mRNA production. RNA processing was normal. The -88 beta-thalassemia mutation lends further support for the in vivo role of the distal element in transcription."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":289,"end":305},"obj":"ORDO:848"},{"id":"AB2","span":{"begin":544,"end":560},"obj":"ORDO:848"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.\nA base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in beta-globin mRNA production. RNA processing was normal. The -88 beta-thalassemia mutation lends further support for the in vivo role of the distal element in transcription."}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":289,"end":305},"obj":"Disease"},{"id":"T2","span":{"begin":544,"end":560},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0013517"}],"text":"Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.\nA base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in beta-globin mRNA production. RNA processing was normal. The -88 beta-thalassemia mutation lends further support for the in vivo role of the distal element in transcription."}