PubMed:10367795 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":146},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":147,"end":240},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":241,"end":318},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":319,"end":616},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":617,"end":777},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":778,"end":877},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":878,"end":1028},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1029,"end":1085},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1086,"end":1248},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":146},"obj":"Sentence"},{"id":"T2","span":{"begin":147,"end":240},"obj":"Sentence"},{"id":"T3","span":{"begin":241,"end":318},"obj":"Sentence"},{"id":"T4","span":{"begin":319,"end":616},"obj":"Sentence"},{"id":"T5","span":{"begin":617,"end":777},"obj":"Sentence"},{"id":"T6","span":{"begin":778,"end":877},"obj":"Sentence"},{"id":"T7","span":{"begin":878,"end":1028},"obj":"Sentence"},{"id":"T8","span":{"begin":1029,"end":1085},"obj":"Sentence"},{"id":"T9","span":{"begin":1086,"end":1248},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Fetal hemoglobin expression in the compound heterozygous state for -117 (G--\u003eA) Agamma HPFH and IVSII-745 (C--\u003eG) beta+ thalassemia: a case study.\nWe studied a family in which two inherited defects of the non-alpha-globin cluster segregate: Greek hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia. The compound heterozygote is a healthy man with 43% HbF, Ggamma/Agamma ratio (27:73) differing from that of 10 simple heterozygotes for the Greek HPFH (92:8), normal levels of total Hb (13.3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation. Molecular analysis of the beta-globin genotype revealed the presence of the IVSII-745 (C--\u003eG) beta+ RNA splice mutation in trans with the -117 G--\u003eA Greek HPFH. The beta+ mutation was linked to haplotype VII and the Greek HPFH was associated with haplotype Ia. The father of the compound heterozygote carries the Greek HPFH in trans with the -158 C--\u003eT on the Ggamma promoter, which is linked with haplotype IV. He presented 13.5% HbF with a Ggamma/Agamma ratio 75:25. His daughter was a compound heterozygote for the IVSII-745 mutation in trans with the -158 C--\u003eT, while her HbF levels were 3.7% with a Ggamma/Agamma ratio 31:69."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10367795-1#62#74#gene3039","span":{"begin":209,"end":221},"obj":"gene3039"},{"id":"10367795-1#62#74#gene3040","span":{"begin":209,"end":221},"obj":"gene3040"},{"id":"10367795-1#154#170#diseaseC0005283","span":{"begin":301,"end":317},"obj":"diseaseC0005283"},{"id":"10367795-1#154#170#diseaseC3841475","span":{"begin":301,"end":317},"obj":"diseaseC3841475"},{"id":"10367795-1#154#170#diseaseC0005283","span":{"begin":301,"end":317},"obj":"diseaseC0005283"},{"id":"10367795-1#154#170#diseaseC3841475","span":{"begin":301,"end":317},"obj":"diseaseC3841475"}],"relations":[{"id":"62#74#gene3039154#170#diseaseC0005283","pred":"associated_with","subj":"10367795-1#62#74#gene3039","obj":"10367795-1#154#170#diseaseC0005283"},{"id":"62#74#gene3039154#170#diseaseC3841475","pred":"associated_with","subj":"10367795-1#62#74#gene3039","obj":"10367795-1#154#170#diseaseC3841475"},{"id":"62#74#gene3039154#170#diseaseC0005283","pred":"associated_with","subj":"10367795-1#62#74#gene3039","obj":"10367795-1#154#170#diseaseC0005283"},{"id":"62#74#gene3039154#170#diseaseC3841475","pred":"associated_with","subj":"10367795-1#62#74#gene3039","obj":"10367795-1#154#170#diseaseC3841475"},{"id":"62#74#gene3040154#170#diseaseC0005283","pred":"associated_with","subj":"10367795-1#62#74#gene3040","obj":"10367795-1#154#170#diseaseC0005283"},{"id":"62#74#gene3040154#170#diseaseC3841475","pred":"associated_with","subj":"10367795-1#62#74#gene3040","obj":"10367795-1#154#170#diseaseC3841475"},{"id":"62#74#gene3040154#170#diseaseC0005283","pred":"associated_with","subj":"10367795-1#62#74#gene3040","obj":"10367795-1#154#170#diseaseC0005283"},{"id":"62#74#gene3040154#170#diseaseC3841475","pred":"associated_with","subj":"10367795-1#62#74#gene3040","obj":"10367795-1#154#170#diseaseC3841475"}],"text":"Fetal hemoglobin expression in the compound heterozygous state for -117 (G--\u003eA) Agamma HPFH and IVSII-745 (C--\u003eG) beta+ thalassemia: a case study.\nWe studied a family in which two inherited defects of the non-alpha-globin cluster segregate: Greek hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia. The compound heterozygote is a healthy man with 43% HbF, Ggamma/Agamma ratio (27:73) differing from that of 10 simple heterozygotes for the Greek HPFH (92:8), normal levels of total Hb (13.3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation. Molecular analysis of the beta-globin genotype revealed the presence of the IVSII-745 (C--\u003eG) beta+ RNA splice mutation in trans with the -117 G--\u003eA Greek HPFH. The beta+ mutation was linked to haplotype VII and the Greek HPFH was associated with haplotype Ia. The father of the compound heterozygote carries the Greek HPFH in trans with the -158 C--\u003eT on the Ggamma promoter, which is linked with haplotype IV. He presented 13.5% HbF with a Ggamma/Agamma ratio 75:25. His daughter was a compound heterozygote for the IVSII-745 mutation in trans with the -158 C--\u003eT, while her HbF levels were 3.7% with a Ggamma/Agamma ratio 31:69."}

{"project":"DisGeNet-2017-sample","denotations":[{"id":"T46","span":{"begin":209,"end":221},"obj":"gene:3039"},{"id":"T47","span":{"begin":301,"end":317},"obj":"disease:C0005283"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T46","obj":"T47"},{"id":"R2","pred":"associated_with","subj":"T46","obj":"T47"},{"id":"R3","pred":"associated_with","subj":"T46","obj":"T47"},{"id":"R4","pred":"associated_with","subj":"T46","obj":"T47"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Fetal hemoglobin expression in the compound heterozygous state for -117 (G--\u003eA) Agamma HPFH and IVSII-745 (C--\u003eG) beta+ thalassemia: a case study.\nWe studied a family in which two inherited defects of the non-alpha-globin cluster segregate: Greek hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia. The compound heterozygote is a healthy man with 43% HbF, Ggamma/Agamma ratio (27:73) differing from that of 10 simple heterozygotes for the Greek HPFH (92:8), normal levels of total Hb (13.3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation. Molecular analysis of the beta-globin genotype revealed the presence of the IVSII-745 (C--\u003eG) beta+ RNA splice mutation in trans with the -117 G--\u003eA Greek HPFH. The beta+ mutation was linked to haplotype VII and the Greek HPFH was associated with haplotype Ia. The father of the compound heterozygote carries the Greek HPFH in trans with the -158 C--\u003eT on the Ggamma promoter, which is linked with haplotype IV. He presented 13.5% HbF with a Ggamma/Agamma ratio 75:25. His daughter was a compound heterozygote for the IVSII-745 mutation in trans with the -158 C--\u003eT, while her HbF levels were 3.7% with a Ggamma/Agamma ratio 31:69."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":209,"end":221},"obj":"gene:3040"},{"id":"T1","span":{"begin":247,"end":289},"obj":"disease:C0019025"},{"id":"T2","span":{"begin":209,"end":221},"obj":"gene:3039"},{"id":"T3","span":{"begin":247,"end":289},"obj":"disease:C0019025"},{"id":"T4","span":{"begin":209,"end":221},"obj":"gene:3040"},{"id":"T5","span":{"begin":291,"end":295},"obj":"disease:C0271994"},{"id":"T6","span":{"begin":209,"end":221},"obj":"gene:3039"},{"id":"T7","span":{"begin":291,"end":295},"obj":"disease:C0271994"},{"id":"T8","span":{"begin":209,"end":221},"obj":"gene:3040"},{"id":"T9","span":{"begin":301,"end":317},"obj":"disease:C0005283"},{"id":"T10","span":{"begin":209,"end":221},"obj":"gene:3039"},{"id":"T11","span":{"begin":301,"end":317},"obj":"disease:C0005283"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Fetal hemoglobin expression in the compound heterozygous state for -117 (G--\u003eA) Agamma HPFH and IVSII-745 (C--\u003eG) beta+ thalassemia: a case study.\nWe studied a family in which two inherited defects of the non-alpha-globin cluster segregate: Greek hereditary persistence of fetal hemoglobin (HPFH) and beta-thalassemia. The compound heterozygote is a healthy man with 43% HbF, Ggamma/Agamma ratio (27:73) differing from that of 10 simple heterozygotes for the Greek HPFH (92:8), normal levels of total Hb (13.3 g/dl), and reduced HbA2 levels comparing with the levels of beta-thal heterozygotes for the same mutation. Molecular analysis of the beta-globin genotype revealed the presence of the IVSII-745 (C--\u003eG) beta+ RNA splice mutation in trans with the -117 G--\u003eA Greek HPFH. The beta+ mutation was linked to haplotype VII and the Greek HPFH was associated with haplotype Ia. The father of the compound heterozygote carries the Greek HPFH in trans with the -158 C--\u003eT on the Ggamma promoter, which is linked with haplotype IV. He presented 13.5% HbF with a Ggamma/Agamma ratio 75:25. His daughter was a compound heterozygote for the IVSII-745 mutation in trans with the -158 C--\u003eT, while her HbF levels were 3.7% with a Ggamma/Agamma ratio 31:69."}