PubMed:21790735 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":115},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":116,"end":276},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":277,"end":360},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":361,"end":450},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":451,"end":530},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":531,"end":655},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":656,"end":752},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":753,"end":841},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":842,"end":1038},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":115},"obj":"Sentence"},{"id":"T2","span":{"begin":116,"end":276},"obj":"Sentence"},{"id":"T3","span":{"begin":277,"end":360},"obj":"Sentence"},{"id":"T4","span":{"begin":361,"end":450},"obj":"Sentence"},{"id":"T5","span":{"begin":451,"end":530},"obj":"Sentence"},{"id":"T6","span":{"begin":531,"end":655},"obj":"Sentence"},{"id":"T7","span":{"begin":656,"end":752},"obj":"Sentence"},{"id":"T8","span":{"begin":753,"end":841},"obj":"Sentence"},{"id":"T9","span":{"begin":842,"end":1038},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.\nC1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":179,"end":185},"obj":"HP_0000969"},{"id":"T2","span":{"begin":269,"end":275},"obj":"HP_0000969"},{"id":"T3","span":{"begin":891,"end":897},"obj":"HP_0000969"}],"text":"A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.\nC1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient."}

{"project":"Allie","denotations":[{"id":"SS1_21790735_1_0","span":{"begin":116,"end":128},"obj":"expanded"},{"id":"SS2_21790735_1_0","span":{"begin":130,"end":136},"obj":"abbr"},{"id":"SS1_21790735_1_1","span":{"begin":150,"end":185},"obj":"expanded"},{"id":"SS2_21790735_1_1","span":{"begin":187,"end":197},"obj":"abbr"}],"relations":[{"id":"AE1_21790735_1_0","pred":"abbreviatedTo","subj":"SS1_21790735_1_0","obj":"SS2_21790735_1_0"},{"id":"AE1_21790735_1_1","pred":"abbreviatedTo","subj":"SS1_21790735_1_1","obj":"SS2_21790735_1_1"}],"text":"A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.\nC1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":258,"end":268},"obj":"http://purl.obolibrary.org/obo/UBERON_0000009"}],"text":"A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.\nC1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":187,"end":190},"obj":"ORDO:238468"},{"id":"AB2","span":{"begin":356,"end":359},"obj":"ORDO:238468"},{"id":"AB3","span":{"begin":446,"end":449},"obj":"ORDO:238468"},{"id":"AB4","span":{"begin":1018,"end":1021},"obj":"ORDO:238468"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.\nC1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":258,"end":268},"obj":"http://purl.obolibrary.org/obo/UBERON_0000009"}],"text":"A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.\nC1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient."}