PubMed:17166870 JSONTXT

{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":113},"obj":"Sentence"},{"id":"T2","span":{"begin":114,"end":125},"obj":"Sentence"},{"id":"T3","span":{"begin":126,"end":262},"obj":"Sentence"},{"id":"T4","span":{"begin":263,"end":470},"obj":"Sentence"},{"id":"T5","span":{"begin":471,"end":583},"obj":"Sentence"},{"id":"T6","span":{"begin":584,"end":595},"obj":"Sentence"},{"id":"T7","span":{"begin":596,"end":768},"obj":"Sentence"},{"id":"T8","span":{"begin":769,"end":777},"obj":"Sentence"},{"id":"T9","span":{"begin":778,"end":913},"obj":"Sentence"},{"id":"T10","span":{"begin":914,"end":1024},"obj":"Sentence"},{"id":"T11","span":{"begin":1025,"end":1033},"obj":"Sentence"},{"id":"T12","span":{"begin":1034,"end":1085},"obj":"Sentence"},{"id":"T13","span":{"begin":1086,"end":1377},"obj":"Sentence"},{"id":"T14","span":{"begin":1378,"end":1391},"obj":"Sentence"},{"id":"T15","span":{"begin":1392,"end":1403},"obj":"Sentence"},{"id":"T16","span":{"begin":1404,"end":1528},"obj":"Sentence"},{"id":"T17","span":{"begin":1529,"end":1541},"obj":"Sentence"},{"id":"T18","span":{"begin":1542,"end":1703},"obj":"Sentence"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-entities","denotations":[{"id":"3693","span":{"begin":23,"end":31},"obj":"GeneOrGeneProduct"},{"id":"3694","span":{"begin":54,"end":72},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3695","span":{"begin":81,"end":112},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3696","span":{"begin":126,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3697","span":{"begin":146,"end":149},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3698","span":{"begin":218,"end":233},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3699","span":{"begin":263,"end":271},"obj":"GeneOrGeneProduct"},{"id":"3700","span":{"begin":278,"end":281},"obj":"GeneOrGeneProduct"},{"id":"3701","span":{"begin":307,"end":319},"obj":"GeneOrGeneProduct"},{"id":"3702","span":{"begin":364,"end":395},"obj":"GeneOrGeneProduct"},{"id":"3703","span":{"begin":397,"end":405},"obj":"GeneOrGeneProduct"},{"id":"3704","span":{"begin":473,"end":489},"obj":"SequenceVariant"},{"id":"3705","span":{"begin":503,"end":508},"obj":"SequenceVariant"},{"id":"3706","span":{"begin":513,"end":516},"obj":"GeneOrGeneProduct"},{"id":"3707","span":{"begin":654,"end":659},"obj":"SequenceVariant"},{"id":"3708","span":{"begin":668,"end":689},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3709","span":{"begin":690,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3710","span":{"begin":723,"end":726},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3711","span":{"begin":731,"end":734},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3712","span":{"begin":797,"end":800},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3713","span":{"begin":832,"end":835},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3714","span":{"begin":884,"end":892},"obj":"OrganismTaxon"},{"id":"3715","span":{"begin":898,"end":912},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3716","span":{"begin":1131,"end":1136},"obj":"SequenceVariant"},{"id":"3717","span":{"begin":1147,"end":1150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3718","span":{"begin":1151,"end":1159},"obj":"OrganismTaxon"},{"id":"3719","span":{"begin":1176,"end":1179},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3720","span":{"begin":1323,"end":1326},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3721","span":{"begin":1327,"end":1335},"obj":"OrganismTaxon"},{"id":"3722","span":{"begin":1344,"end":1347},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3723","span":{"begin":1430,"end":1435},"obj":"SequenceVariant"},{"id":"3724","span":{"begin":1463,"end":1466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3725","span":{"begin":1467,"end":1475},"obj":"OrganismTaxon"},{"id":"3726","span":{"begin":1481,"end":1484},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3727","span":{"begin":1564,"end":1569},"obj":"SequenceVariant"},{"id":"3728","span":{"begin":1586,"end":1589},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3729","span":{"begin":1590,"end":1598},"obj":"OrganismTaxon"},{"id":"3730","span":{"begin":1615,"end":1618},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3731","span":{"begin":1650,"end":1653},"obj":"GeneOrGeneProduct"},{"id":"3732","span":{"begin":1674,"end":1695},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3733","span":{"begin":1699,"end":1702},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"db_id","subj":"3693","obj":"NCBIGene:2022"},{"id":"A2","pred":"db_id","subj":"3694","obj":"MESH:D012595"},{"id":"A3","pred":"db_id","subj":"3695","obj":"MESH:D000081029"},{"id":"A4","pred":"db_id","subj":"3696","obj":"MESH:D012595"},{"id":"A5","pred":"db_id","subj":"3697","obj":"MESH:D012595"},{"id":"A6","pred":"db_id","subj":"3698","obj":"MESH:D057049"},{"id":"A7","pred":"db_id","subj":"3699","obj":"NCBIGene:2022"},{"id":"A8","pred":"db_id","subj":"3700","obj":"NCBIGene:2022"},{"id":"A9","pred":"db_id","subj":"3701","obj":"NCBIGene:351"},{"id":"A10","pred":"db_id","subj":"3702","obj":"NCBIGene:7040"},{"id":"A11","pred":"db_id","subj":"3703","obj":"NCBIGene:7040"},{"id":"A12","pred":"db_id","subj":"3704","obj":"c|INS||6"},{"id":"A13","pred":"db_id","subj":"3705","obj":"c|INS||6"},{"id":"A14","pred":"db_id","subj":"3706","obj":"NCBIGene:2022"},{"id":"A15","pred":"db_id","subj":"3707","obj":"c|INS||6"},{"id":"A16","pred":"db_id","subj":"3708","obj":"MESH:D014652"},{"id":"A17","pred":"db_id","subj":"3709","obj":"MESH:D000081029"},{"id":"A18","pred":"db_id","subj":"3710","obj":"MESH:D000081029"},{"id":"A19","pred":"db_id","subj":"3711","obj":"MESH:D012595"},{"id":"A20","pred":"db_id","subj":"3712","obj":"MESH:D012595"},{"id":"A21","pred":"db_id","subj":"3713","obj":"MESH:D000081029"},{"id":"A22","pred":"db_id","subj":"3714","obj":"NCBITaxon:9606"},{"id":"A23","pred":"db_id","subj":"3715","obj":"MESH:D010003"},{"id":"A24","pred":"db_id","subj":"3716","obj":"c|INS||6"},{"id":"A25","pred":"db_id","subj":"3717","obj":"MESH:D012595"},{"id":"A26","pred":"db_id","subj":"3718","obj":"NCBITaxon:9606"},{"id":"A27","pred":"db_id","subj":"3719","obj":"MESH:D000081029"},{"id":"A28","pred":"db_id","subj":"3720","obj":"MESH:D012595"},{"id":"A29","pred":"db_id","subj":"3721","obj":"NCBITaxon:9606"},{"i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between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin_Mondo","denotations":[{"id":"T1","span":{"begin":54,"end":72},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":81,"end":112},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":126,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":690,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":898,"end":912},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0005100"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0015924"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0005100"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0015924"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0005178"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-SeqVar","denotations":[{"id":"T1","span":{"begin":503,"end":508},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":654,"end":659},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":1131,"end":1136},"obj":"SequenceVariant"},{"id":"T4","span":{"begin":1430,"end":1435},"obj":"SequenceVariant"},{"id":"T5","span":{"begin":1564,"end":1569},"obj":"SequenceVariant"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-GeneOrGeneProduct-v2","denotations":[{"id":"T1","span":{"begin":23,"end":31},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":100,"end":112},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":200,"end":205},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":263,"end":271},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":293,"end":319},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":347,"end":355},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":364,"end":395},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":397,"end":405},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":709,"end":721},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":942,"end":952},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":953,"end":958},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":1118,"end":1127},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":1551,"end":1560},"obj":"GeneOrGeneProduct"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-GeneOrGeneProduct-v0","denotations":[{"id":"T1","span":{"begin":23,"end":31},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":100,"end":112},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":145,"end":155},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":200,"end":205},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":263,"end":271},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":293,"end":319},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":326,"end":330},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":347,"end":355},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":364,"end":395},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":397,"end":405},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":475,"end":479},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":709,"end":721},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":735,"end":739},"obj":"GeneOrGeneProduct"},{"id":"T14","span":{"begin":769,"end":776},"obj":"GeneOrGeneProduct"},{"id":"T15","span":{"begin":801,"end":806},"obj":"GeneOrGeneProduct"},{"id":"T16","span":{"begin":942,"end":952},"obj":"GeneOrGeneProduct"},{"id":"T17","span":{"begin":953,"end":958},"obj":"GeneOrGeneProduct"},{"id":"T18","span":{"begin":968,"end":973},"obj":"GeneOrGeneProduct"},{"id":"T19","span":{"begin":1058,"end":1063},"obj":"GeneOrGeneProduct"},{"id":"T20","span":{"begin":1118,"end":1127},"obj":"GeneOrGeneProduct"},{"id":"T21","span":{"begin":1551,"end":1560},"obj":"GeneOrGeneProduct"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-Disease-MeSH","denotations":[{"id":"T1","span":{"begin":54,"end":72},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":81,"end":112},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":126,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":146,"end":149},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":690,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":723,"end":726},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":731,"end":734},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":797,"end":800},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":832,"end":835},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":898,"end":912},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":1147,"end":1150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":1176,"end":1179},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":1323,"end":1326},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":1344,"end":1347},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":1463,"end":1466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":1481,"end":1484},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T17","span":{"begin":1586,"end":1589},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T18","span":{"begin":1615,"end":1618},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":1699,"end":1702},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"originalLabel","subj":"T5","obj":"D000081029"},{"id":"A3","pred":"originalLabel","subj":"T3","obj":"D012595"},{"id":"A12","pred":"originalLabel","subj":"T12","obj":"D000081029"},{"id":"A9","pred":"originalLabel","subj":"T9","obj":"D000081029"},{"id":"A1","pred":"originalLabel","subj":"T1","obj":"D012595"},{"id":"A2","pred":"originalLabel","subj":"T2","obj":"D000081029"},{"id":"A15","pred":"originalLabel","subj":"T15","obj":"D012595"},{"id":"A8","pred":"originalLabel","subj":"T8","obj":"D012595"},{"id":"A10","pred":"originalLabel","subj":"T10","obj":"D010003"},{"id":"A16","pred":"originalLabel","subj":"T16","obj":"D000081029"},{"id":"A11","pred":"originalLabel","subj":"T11","obj":"D012595"},{"id":"A18","pred":"originalLabel","subj":"T18","obj":"D000081029"},{"id":"A17","pred":"originalLabel","subj":"T17","obj":"D012595"},{"id":"A13","pred":"originalLabel","subj":"T13","obj":"D012595"},{"id":"A19","pred":"originalLabel","subj":"T19","obj":"D012595"},{"id":"A4","pred":"originalLabel","subj":"T4","obj":"D012595"},{"id":"A7","pred":"originalLabel","subj":"T7","obj":"D012595"},{"id":"A14","pred":"originalLabel","subj":"T14","obj":"D000081029"},{"id":"A6","pred":"originalLabel","subj":"T6","obj":"D000081029"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-GeneOrGeneProduct-v3","denotations":[{"id":"T1","span":{"begin":23,"end":31},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":263,"end":271},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":293,"end":319},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":364,"end":395},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":397,"end":405},"obj":"GeneOrGeneProduct"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin_Mondo_095","denotations":[{"id":"T1","span":{"begin":54,"end":72},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":81,"end":112},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":126,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":146,"end":149},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":156,"end":182},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":690,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":723,"end":726},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":731,"end":734},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":797,"end":800},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":832,"end":835},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":898,"end":912},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":1147,"end":1150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T17","span":{"begin":1176,"end":1179},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":1323,"end":1326},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20","span":{"begin":1344,"end":1347},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T22","span":{"begin":1463,"end":1466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T23","span":{"begin":1481,"end":1484},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T25","span":{"begin":1586,"end":1589},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T26","span":{"begin":1615,"end":1618},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T28","span":{"begin":1699,"end":1702},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A16","pred":"mondo_id","subj":"T16","obj":"0005100"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0005100"},{"id":"A13","pred":"mondo_id","subj":"T13","obj":"0015924"},{"id":"A14","pred":"mondo_id","subj":"T13","obj":"0024533"},{"id":"A19","pred":"mondo_id","subj":"T19","obj":"0005100"},{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0005100"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0024533"},{"id":"A8","pred":"mondo_id","subj":"T7","obj":"0015924"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0005100"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0003900"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0024533"},{"id":"A3","pred":"mondo_id","subj":"T2","obj":"0015924"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0005100"},{"id":"A15","pred":"mondo_id","subj":"T15","obj":"0005178"},{"id":"A22","pred":"mondo_id","subj":"T22","obj":"0005100"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0005100"},{"id":"A17","pred":"mondo_id","subj":"T17","obj":"0015924"},{"id":"A18","pred":"mondo_id","subj":"T17","obj":"0024533"},{"id":"A23","pred":"mondo_id","subj":"T23","obj":"0015924"},{"id":"A24","pred":"mondo_id","subj":"T23","obj":"0024533"},{"id":"A26","pred":"mondo_id","subj":"T26","obj":"0015924"},{"id":"A27","pred":"mondo_id","subj":"T26","obj":"0024533"},{"id":"A28","pred":"mondo_id","subj":"T28","obj":"0005100"},{"id":"A25","pred":"mondo_id","subj":"T25","obj":"0005100"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0015924"},{"id":"A10","pred":"mondo_id","subj":"T9","obj":"0024533"},{"id":"A20","pred":"mondo_id","subj":"T20","obj":"0015924"},{"id":"A21","pred":"mondo_id","subj":"T20","obj":"0024533"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-MeSH-Disease-2","denotations":[{"id":"T1","span":{"begin":54,"end":72},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":81,"end":112},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":126,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":146,"end":149},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":218,"end":233},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":668,"end":689},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":690,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":723,"end":726},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":731,"end":734},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":797,"end":800},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":832,"end":835},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":898,"end":912},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":1147,"end":1150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":1176,"end":1179},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":1323,"end":1326},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":1344,"end":1347},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T17","span":{"begin":1463,"end":1466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T18","span":{"begin":1481,"end":1484},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":1586,"end":1589},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20","span":{"begin":1615,"end":1618},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T21","span":{"begin":1674,"end":1695},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T22","span":{"begin":1699,"end":1702},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"D012595"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D000081029"},{"id":"A15","pred":"ID:","subj":"T15","obj":"D012595"},{"id":"A9","pred":"ID:","subj":"T9","obj":"D012595"},{"id":"A17","pred":"ID:","subj":"T17","obj":"D012595"},{"id":"A20","pred":"ID:","subj":"T20","obj":"D000081029"},{"id":"A13","pred":"ID:","subj":"T13","obj":"D012595"},{"id":"A6","pred":"ID:","subj":"T6","obj":"DISEASE"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D012595"},{"id":"A10","pred":"ID:","subj":"T10","obj":"D012595"},{"id":"A4","pred":"ID:","subj":"T4","obj":"D012595"},{"id":"A18","pred":"ID:","subj":"T18","obj":"D000081029"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D000081029"},{"id":"A22","pred":"ID:","subj":"T22","obj":"D012595"},{"id":"A14","pred":"ID:","subj":"T14","obj":"D000081029"},{"id":"A5","pred":"ID:","subj":"T5","obj":"DISEASE"},{"id":"A16","pred":"ID:","subj":"T16","obj":"D000081029"},{"id":"A11","pred":"ID:","subj":"T11","obj":"D000081029"},{"id":"A21","pred":"ID:","subj":"T21","obj":"DISEASE"},{"id":"A12","pred":"ID:","subj":"T12","obj":"D010003"},{"id":"A7","pred":"ID:","subj":"T7","obj":"D000081029"},{"id":"A19","pred":"ID:","subj":"T19","obj":"D012595"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"LitCoin-MONDO_bioort2019","denotations":[{"id":"T1","span":{"begin":54,"end":72},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":81,"end":112},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":126,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":146,"end":149},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":218,"end":233},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":668,"end":689},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":690,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":723,"end":726},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":731,"end":734},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":797,"end":800},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":832,"end":835},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":898,"end":912},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":1147,"end":1150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":1176,"end":1179},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":1323,"end":1326},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":1344,"end":1347},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T17","span":{"begin":1463,"end":1466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T18","span":{"begin":1481,"end":1484},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":1586,"end":1589},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20","span":{"begin":1615,"end":1618},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T21","span":{"begin":1674,"end":1695},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T22","span":{"begin":1699,"end":1702},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A15","pred":"#label","subj":"T15","obj":"D012595"},{"id":"A11","pred":"#label","subj":"T11","obj":"D000081029"},{"id":"A6","pred":"#label","subj":"T6","obj":"DISEASE"},{"id":"A7","pred":"#label","subj":"T7","obj":"D000081029"},{"id":"A20","pred":"#label","subj":"T20","obj":"D000081029"},{"id":"A17","pred":"#label","subj":"T17","obj":"D012595"},{"id":"A2","pred":"#label","subj":"T2","obj":"D000081029"},{"id":"A19","pred":"#label","subj":"T19","obj":"D012595"},{"id":"A12","pred":"#label","subj":"T12","obj":"D010003"},{"id":"A21","pred":"#label","subj":"T21","obj":"DISEASE"},{"id":"A13","pred":"#label","subj":"T13","obj":"D012595"},{"id":"A14","pred":"#label","subj":"T14","obj":"D000081029"},{"id":"A1","pred":"#label","subj":"T1","obj":"D012595"},{"id":"A10","pred":"#label","subj":"T10","obj":"D012595"},{"id":"A5","pred":"#label","subj":"T5","obj":"DISEASE"},{"id":"A8","pred":"#label","subj":"T8","obj":"D000081029"},{"id":"A4","pred":"#label","subj":"T4","obj":"D012595"},{"id":"A9","pred":"#label","subj":"T9","obj":"D012595"},{"id":"A22","pred":"#label","subj":"T22","obj":"D012595"},{"id":"A16","pred":"#label","subj":"T16","obj":"D000081029"},{"id":"A18","pred":"#label","subj":"T18","obj":"D000081029"},{"id":"A3","pred":"#label","subj":"T3","obj":"D012595"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

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{"project":"LitCoin-NCBITaxon-2","denotations":[{"id":"T1","span":{"begin":884,"end":892},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":1151,"end":1159},"obj":"OrganismTaxon"},{"id":"T3","span":{"begin":1327,"end":1335},"obj":"OrganismTaxon"},{"id":"T4","span":{"begin":1467,"end":1475},"obj":"OrganismTaxon"},{"id":"T5","span":{"begin":1590,"end":1598},"obj":"OrganismTaxon"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

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between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":23,"end":31},"obj":"gene:2022"},{"id":"T1","span":{"begin":54,"end":72},"obj":"disease:C0036421"},{"id":"T2","span":{"begin":23,"end":31},"obj":"gene:2022"},{"id":"T3","span":{"begin":81,"end":112},"obj":"disease:C0152171"},{"id":"T4","span":{"begin":23,"end":31},"obj":"gene:2022"},{"id":"T5","span":{"begin":81,"end":112},"obj":"disease:C2973725"},{"id":"T6","span":{"begin":23,"end":31},"obj":"gene:2022"},{"id":"T7","span":{"begin":81,"end":112},"obj":"disease:C3714844"}],"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"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":156,"end":182},"obj":"HP_0003549"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"17166870-0#23#31#gene2022","span":{"begin":23,"end":31},"obj":"gene2022"},{"id":"17166870-0#54#72#diseaseC0036421","span":{"begin":54,"end":72},"obj":"diseaseC0036421"},{"id":"17166870-0#81#112#diseaseC3203102","span":{"begin":81,"end":112},"obj":"diseaseC3203102"}],"relations":[{"id":"23#31#gene202254#72#diseaseC0036421","pred":"associated_with","subj":"17166870-0#23#31#gene2022","obj":"17166870-0#54#72#diseaseC0036421"},{"id":"23#31#gene202281#112#diseaseC3203102","pred":"associated_with","subj":"17166870-0#23#31#gene2022","obj":"17166870-0#81#112#diseaseC3203102"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":503,"end":508},"obj":"DNAMutation:|INS||6"},{"id":"T2","span":{"begin":654,"end":659},"obj":"DNAMutation:|INS||6"},{"id":"T3","span":{"begin":1131,"end":1136},"obj":"DNAMutation:|INS||6"},{"id":"T4","span":{"begin":1430,"end":1435},"obj":"DNAMutation:|INS||6"},{"id":"T5","span":{"begin":1564,"end":1569},"obj":"DNAMutation:|INS||6"}],"text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc."}