PubMed:16419642 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"16419642_0","span":{"begin":27,"end":32},"obj":"ProteinMutation"},{"id":"16419642_1","span":{"begin":872,"end":877},"obj":"ProteinMutation"},{"id":"16419642_2","span":{"begin":1010,"end":1015},"obj":"ProteinMutation"},{"id":"16419642_3","span":{"begin":1022,"end":1027},"obj":"ProteinMutation"},{"id":"16419642_4","span":{"begin":1123,"end":1128},"obj":"ProteinMutation"},{"id":"16419642_5","span":{"begin":1315,"end":1320},"obj":"ProteinMutation"},{"id":"16419642_6","span":{"begin":1628,"end":1633},"obj":"ProteinMutation"}],"attributes":[{"id":"16419642_0_ProteinMutation","pred":"proteinmutation","subj":"16419642_0","obj":"rs13306592"},{"id":"16419642_1_ProteinMutation","pred":"proteinmutation","subj":"16419642_1","obj":"rs13306592"},{"id":"16419642_2_ProteinMutation","pred":"proteinmutation","subj":"16419642_2","obj":"rs145670736"},{"id":"16419642_3_ProteinMutation","pred":"proteinmutation","subj":"16419642_3","obj":"rs13306592"},{"id":"16419642_4_ProteinMutation","pred":"proteinmutation","subj":"16419642_4","obj":"rs13306592"},{"id":"16419642_5_ProteinMutation","pred":"proteinmutation","subj":"16419642_5","obj":"rs13306592"},{"id":"16419642_6_ProteinMutation","pred":"proteinmutation","subj":"16419642_6","obj":"rs13306592"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"TEST-DiseaseOrPhenotypicFeature","denotations":[{"id":"T1","span":{"begin":337,"end":349},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":519,"end":531},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":590,"end":602},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":786,"end":808},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1561,"end":1573},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"#label","subj":"T1","obj":"D006973"},{"id":"A2","pred":"#label","subj":"T2","obj":"D006973"},{"id":"A3","pred":"#label","subj":"T3","obj":"D006973"},{"id":"A4","pred":"#label","subj":"T4","obj":"D000075222"},{"id":"A5","pred":"#label","subj":"T5","obj":"D006973"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"TEST-ChemicalEntity","denotations":[{"id":"T1","span":{"begin":41,"end":58},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":254,"end":271},"obj":"ChemicalEntity"},{"id":"T3","span":{"begin":1683,"end":1700},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_25354"},{"id":"A2","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_25354"},{"id":"A3","pred":"ID:","subj":"T3","obj":"http://purl.obolibrary.org/obo/CHEBI_25354"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"TEST-OrganismTaxon","denotations":[{"id":"T1","span":{"begin":576,"end":584},"obj":"OrganismTaxon"},{"id":"T2","span":{"begin":888,"end":896},"obj":"OrganismTaxon"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"Test-SequenceVariant","denotations":[{"id":"T1","span":{"begin":27,"end":32},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":187,"end":192},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":611,"end":616},"obj":"SequenceVariant"},{"id":"T4","span":{"begin":671,"end":676},"obj":"SequenceVariant"},{"id":"T5","span":{"begin":734,"end":739},"obj":"SequenceVariant"},{"id":"T6","span":{"begin":872,"end":877},"obj":"SequenceVariant"},{"id":"T7","span":{"begin":1010,"end":1015},"obj":"SequenceVariant"},{"id":"T8","span":{"begin":1022,"end":1027},"obj":"SequenceVariant"},{"id":"T9","span":{"begin":1123,"end":1128},"obj":"SequenceVariant"},{"id":"T10","span":{"begin":1315,"end":1320},"obj":"SequenceVariant"},{"id":"T11","span":{"begin":1628,"end":1633},"obj":"SequenceVariant"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T1","span":{"begin":41,"end":67},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":254,"end":280},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":292,"end":298},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":299,"end":304},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":1683,"end":1709},"obj":"GeneOrGeneProduct"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"Test-merged-2","denotations":[{"id":"T68309","span":{"begin":27,"end":32},"obj":"SequenceVariant"},{"id":"T64764","span":{"begin":187,"end":192},"obj":"SequenceVariant"},{"id":"T90304","span":{"begin":611,"end":616},"obj":"SequenceVariant"},{"id":"T44069","span":{"begin":671,"end":676},"obj":"SequenceVariant"},{"id":"T3446","span":{"begin":734,"end":739},"obj":"SequenceVariant"},{"id":"T6","span":{"begin":872,"end":877},"obj":"SequenceVariant"},{"id":"T7","span":{"begin":1010,"end":1015},"obj":"SequenceVariant"},{"id":"T8","span":{"begin":1022,"end":1027},"obj":"SequenceVariant"},{"id":"T9","span":{"begin":1123,"end":1128},"obj":"SequenceVariant"},{"id":"T10","span":{"begin":1315,"end":1320},"obj":"SequenceVariant"},{"id":"T11","span":{"begin":1628,"end":1633},"obj":"SequenceVariant"},{"id":"T10440","span":{"begin":41,"end":58},"obj":"ChemicalEntity"},{"id":"T86532","span":{"begin":254,"end":271},"obj":"ChemicalEntity"},{"id":"T21280","span":{"begin":1683,"end":1700},"obj":"ChemicalEntity"},{"id":"T66595","span":{"begin":41,"end":67},"obj":"GeneOrGeneProduct"},{"id":"T26815","span":{"begin":254,"end":280},"obj":"GeneOrGeneProduct"},{"id":"T48459","span":{"begin":292,"end":298},"obj":"GeneOrGeneProduct"},{"id":"T47981","span":{"begin":299,"end":304},"obj":"GeneOrGeneProduct"},{"id":"T6939","span":{"begin":1683,"end":1709},"obj":"GeneOrGeneProduct"},{"id":"T3315","span":{"begin":576,"end":584},"obj":"OrganismTaxon"},{"id":"T66871","span":{"begin":888,"end":896},"obj":"OrganismTaxon"},{"id":"T1","span":{"begin":337,"end":349},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":519,"end":531},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":590,"end":602},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":786,"end":808},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1561,"end":1573},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A48920","pred":"ID:","subj":"T21280","obj":"http://purl.obolibrary.org/obo/CHEBI_25354"},{"id":"A1","pred":"#label","subj":"T1","obj":"D006973"},{"id":"A4","pred":"#label","subj":"T4","obj":"D000075222"},{"id":"A38677","pred":"ID:","subj":"T86532","obj":"http://purl.obolibrary.org/obo/CHEBI_25354"},{"id":"A5","pred":"#label","subj":"T5","obj":"D006973"},{"id":"A2","pred":"#label","subj":"T2","obj":"D006973"},{"id":"A73468","pred":"ID:","subj":"T10440","obj":"http://purl.obolibrary.org/obo/CHEBI_25354"},{"id":"A3","pred":"#label","subj":"T3","obj":"D006973"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"Test-merged","denotations":[{"id":"T5","span":{"begin":1561,"end":1573},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":786,"end":808},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":590,"end":602},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":519,"end":531},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T1","span":{"begin":337,"end":349},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T66871","span":{"begin":888,"end":896},"obj":"OrganismTaxon"},{"id":"T3315","span":{"begin":576,"end":584},"obj":"OrganismTaxon"},{"id":"T6939","span":{"begin":1683,"end":1709},"obj":"GeneOrGeneProduct"},{"id":"T47981","span":{"begin":299,"end":304},"obj":"GeneOrGeneProduct"},{"id":"T48459","span":{"begin":292,"end":298},"obj":"GeneOrGeneProduct"},{"id":"T26815","span":{"begin":254,"end":280},"obj":"GeneOrGeneProduct"},{"id":"T66595","span":{"begin":41,"end":67},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":1628,"end":1633},"obj":"SequenceVariant"},{"id":"T10","span":{"begin":1315,"end":1320},"obj":"SequenceVariant"},{"id":"T9","span":{"begin":1123,"end":1128},"obj":"SequenceVariant"},{"id":"T8","span":{"begin":1022,"end":1027},"obj":"SequenceVariant"},{"id":"T7","span":{"begin":1010,"end":1015},"obj":"SequenceVariant"},{"id":"T6","span":{"begin":872,"end":877},"obj":"SequenceVariant"},{"id":"T3446","span":{"begin":734,"end":739},"obj":"SequenceVariant"},{"id":"T44069","span":{"begin":671,"end":676},"obj":"SequenceVariant"},{"id":"T90304","span":{"begin":611,"end":616},"obj":"SequenceVariant"},{"id":"T64764","span":{"begin":187,"end":192},"obj":"SequenceVariant"},{"id":"T68309","span":{"begin":27,"end":32},"obj":"SequenceVariant"}],"attributes":[{"id":"A5","pred":"#label","subj":"T5","obj":"D006973"},{"id":"A2","pred":"#label","subj":"T2","obj":"D006973"},{"id":"A4","pred":"#label","subj":"T4","obj":"D000075222"},{"id":"A1","pred":"#label","subj":"T1","obj":"D006973"},{"id":"A3","pred":"#label","subj":"T3","obj":"D006973"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"16419642-3#126#131#geners41511344","span":{"begin":671,"end":676},"obj":"geners41511344"},{"id":"16419642-3#189#194#geners41511344","span":{"begin":734,"end":739},"obj":"geners41511344"},{"id":"16419642-3#66#71#geners41511344","span":{"begin":611,"end":616},"obj":"geners41511344"},{"id":"16419642-3#45#57#diseaseC0020538","span":{"begin":590,"end":602},"obj":"diseaseC0020538"},{"id":"16419642-3#241#263#diseaseC0085580","span":{"begin":786,"end":808},"obj":"diseaseC0085580"},{"id":"16419642-3#45#57#diseaseC0020538","span":{"begin":590,"end":602},"obj":"diseaseC0020538"},{"id":"16419642-3#241#263#diseaseC0085580","span":{"begin":786,"end":808},"obj":"diseaseC0085580"},{"id":"16419642-3#45#57#diseaseC0020538","span":{"begin":590,"end":602},"obj":"diseaseC0020538"},{"id":"16419642-3#241#263#diseaseC0085580","span":{"begin":786,"end":808},"obj":"diseaseC0085580"},{"id":"16419642-7#23#28#geners13306592","span":{"begin":1315,"end":1320},"obj":"geners13306592"},{"id":"16419642-7#269#281#diseaseC0020538","span":{"begin":1561,"end":1573},"obj":"diseaseC0020538"}],"relations":[{"id":"126#131#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#126#131#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"126#131#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#126#131#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"126#131#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#126#131#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"126#131#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#126#131#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"126#131#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#126#131#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"126#131#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#126#131#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"189#194#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#189#194#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"189#194#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#189#194#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"189#194#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#189#194#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"189#194#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#189#194#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"189#194#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#189#194#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"189#194#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#189#194#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"66#71#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#66#71#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"66#71#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#66#71#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"66#71#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#66#71#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"66#71#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#66#71#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"66#71#geners4151134445#57#diseaseC0020538","pred":"associated_with","subj":"16419642-3#66#71#geners41511344","obj":"16419642-3#45#57#diseaseC0020538"},{"id":"66#71#geners41511344241#263#diseaseC0085580","pred":"associated_with","subj":"16419642-3#66#71#geners41511344","obj":"16419642-3#241#263#diseaseC0085580"},{"id":"23#28#geners13306592269#281#diseaseC0020538","pred":"associated_with","subj":"16419642-7#23#28#geners13306592","obj":"16419642-7#269#281#diseaseC0020538"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"16419642-1#112#138#gene4306","span":{"begin":254,"end":280},"obj":"gene4306"},{"id":"16419642-1#157#162#gene4306","span":{"begin":299,"end":304},"obj":"gene4306"},{"id":"16419642-1#195#207#diseaseC0020538","span":{"begin":337,"end":349},"obj":"diseaseC0020538"}],"relations":[{"id":"112#138#gene4306195#207#diseaseC0020538","pred":"associated_with","subj":"16419642-1#112#138#gene4306","obj":"16419642-1#195#207#diseaseC0020538"},{"id":"157#162#gene4306195#207#diseaseC0020538","pred":"associated_with","subj":"16419642-1#157#162#gene4306","obj":"16419642-1#195#207#diseaseC0020538"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":27,"end":32},"obj":"ProteinMutation:p|SUB|F|826|Y"},{"id":"T2","span":{"begin":187,"end":192},"obj":"ProteinMutation:p|SUB|S|810|L"},{"id":"T3","span":{"begin":611,"end":616},"obj":"ProteinMutation:p|SUB|S|810|L"},{"id":"T4","span":{"begin":671,"end":676},"obj":"ProteinMutation:p|SUB|S|810|L"},{"id":"T5","span":{"begin":734,"end":739},"obj":"ProteinMutation:p|SUB|S|810|L"},{"id":"T6","span":{"begin":872,"end":877},"obj":"ProteinMutation:p|SUB|F|826|Y"},{"id":"T7","span":{"begin":1010,"end":1015},"obj":"ProteinMutation:p|SUB|L|809|L"},{"id":"T8","span":{"begin":1022,"end":1027},"obj":"ProteinMutation:p|SUB|F|826|Y"},{"id":"T9","span":{"begin":1123,"end":1128},"obj":"ProteinMutation:p|SUB|F|826|Y"},{"id":"T10","span":{"begin":1315,"end":1320},"obj":"ProteinMutation:p|SUB|F|826|Y"},{"id":"T11","span":{"begin":1628,"end":1633},"obj":"ProteinMutation:p|SUB|F|826|Y"}],"text":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":254,"end":280},"obj":"gene:4306"},{"id":"T1","span":{"begin":337,"end":349},"obj":"disease:C0020538"},{"id":"T2","span":{"begin":299,"end":304},"obj":"gene:4306"},{"id":"T3","span":{"begin":337,"end":349},"obj":"disease:C0020538"}],"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":"A novel missense mutation, F826Y, in the mineralocorticoid receptor gene in Japanese hypertensives: its implications for clinical phenotypes.\nA gain-of-function mutation resulting in the S810L amino acid substitution in the hormone-binding domain of the mineralocorticoid receptor (MR, locus symbol NR3C2) is responsible for early-onset hypertension that is exacerbated in pregnancy. The objective of this study was to test whether other types of missense mutations in the hormone-binding domain could be implicated in hypertension in Japanese. Here, we screened 942 Japanese patients with hypertension for the S810L mutation in exon 6 in the MR. We did not identify the S810L mutation in our hypertensive population, indicating that S810L does not play a major role in the etiology of essential hypertension in Japanese. However, we identified a novel missense mutation, F826Y, in three patients in a heterozygous state, in addition to four single nucleotide polymorphisms, including one synonymous mutation (L809L). The F826Y mutation is present in the MR hormone-binding domain and might affect the ligand affinity. The F826Y mutation was also identified in 13 individuals (5 hypertensives and 8 normotensives) in a Japanese general population (n=3,655). The allele frequency was 0.00178. The frequencies of the F826Y mutation in the hypertensive population (3/942) and in the hypertensive group (5/ 1,480) and the normotensive group (8/2,175) in the general population were not significantly different, suggesting that this mutation does not greatly affect hypertension. Although it is unclear at present whether or not the F826Y mutation makes a substantial contribution to the mineralocorticoid receptor activity, this missense mutation may contribute, to some extent, to clinical phenotypes through its effects on MR."}