PubMed:28468941
Annnotations
LitCoin-entities-OrganismTaxon-PD
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 775-780 | OrganismTaxon | denotes | mouse | NCBItxid:10090|NCBItxid:10088 |
LitCoin-sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-215 | Sentence | denotes | Aberrant caveolin-1-mediated Smad signaling and proliferation identified by analysis of adenine 474 deletion mutation (c.474delA) in patient fibroblasts: a new perspective on the mechanism of pulmonary hypertension. |
T2 | 216-346 | Sentence | denotes | A heterozygous caveolin-1 c.474delA mutation has been identified in a family with heritable pulmonary arterial hypertension (PAH). |
T3 | 347-513 | Sentence | denotes | This frameshift mutation leads to a caveolin-1 protein that contains all known functional domains but has a change in only the final 20 amino acids of the C-terminus. |
T4 | 514-610 | Sentence | denotes | Here we studied how this mutation alters caveolin-1 function, using patient-derived fibroblasts. |
T5 | 611-722 | Sentence | denotes | Transmission electron microscopy showed that fibroblasts carrying the c.474delA mutation form typical caveolae. |
T6 | 723-901 | Sentence | denotes | Expression of mutated caveolin-1 in caveolin-1-null mouse fibroblasts failed to induce formation of caveolae due to retention of the mutated protein in the endoplasmic reticulum. |
T7 | 902-1010 | Sentence | denotes | However, coexpression of wild-type caveolin-1 with mutated caveolin-1 restored the ability to form caveolae. |
T8 | 1011-1154 | Sentence | denotes | Importantly, fibroblasts carrying the mutation showed twofold increase in proliferation rate associated with hyperphosphorylation of Smad1/5/8. |
T9 | 1155-1223 | Sentence | denotes | This mutation impaired the antiproliferative function of caveolin-1. |
T10 | 1224-1377 | Sentence | denotes | Inhibition of type I TGFβ receptors ALK1/2/3/6 responsible for phosphorylation of Smad1/5/8 reduced the hyperproliferation seen in c.474delA fibroblasts. |
T11 | 1378-1706 | Sentence | denotes | These results demonstrate the critical role of the final 20 amino acids of caveolin-1 in modulating fibroblast proliferation by dampening Smad signaling and suggest that augmented Smad signaling and fibroblast hyperproliferation are contributing factors in the pathogenesis of PAH in patients with caveolin-1 c.474delA mutation. |
LitCoin-entities
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
12808 | 9-19 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12809 | 29-33 | GeneOrGeneProduct | denotes | Smad | NCBIGene:4086|NCBIGene:4090|NCBIGene:4093 |
12810 | 88-108 | SequenceVariant | denotes | adenine 474 deletion | DBSNP:rs587777017 |
12811 | 119-128 | SequenceVariant | denotes | c.474delA | DBSNP:rs587777017 |
12812 | 133-140 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
12813 | 192-214 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypertension | MESH:D006976 |
12814 | 231-241 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12815 | 242-251 | SequenceVariant | denotes | c.474delA | DBSNP:rs587777017 |
12816 | 308-339 | DiseaseOrPhenotypicFeature | denotes | pulmonary arterial hypertension | MESH:D000081029 |
12817 | 341-344 | DiseaseOrPhenotypicFeature | denotes | PAH | MESH:D000081029 |
12818 | 383-393 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12819 | 555-565 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12820 | 582-589 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
12821 | 681-690 | SequenceVariant | denotes | c.474delA | DBSNP:rs587777017 |
12822 | 745-755 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12823 | 759-769 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:12389 |
12824 | 775-780 | OrganismTaxon | denotes | mouse | NCBITaxon:10090 |
12825 | 937-947 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12826 | 961-971 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12827 | 1144-1153 | GeneOrGeneProduct | denotes | Smad1/5/8 | NCBIGene:4086|NCBIGene:4090|NCBIGene:4093 |
12828 | 1212-1222 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12829 | 1238-1259 | GeneOrGeneProduct | denotes | type I TGFβ receptors | NCBIGene:657|NCBIGene:658|NCBIGene:90|NCBIGene:94 |
12830 | 1260-1270 | GeneOrGeneProduct | denotes | ALK1/2/3/6 | NCBIGene:657|NCBIGene:658|NCBIGene:90|NCBIGene:94 |
12831 | 1306-1315 | GeneOrGeneProduct | denotes | Smad1/5/8 | NCBIGene:4086|NCBIGene:4090|NCBIGene:4093 |
12832 | 1355-1364 | SequenceVariant | denotes | c.474delA | DBSNP:rs587777017 |
12833 | 1453-1463 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12834 | 1516-1520 | GeneOrGeneProduct | denotes | Smad | NCBIGene:4086|NCBIGene:4090|NCBIGene:4093 |
12835 | 1558-1562 | GeneOrGeneProduct | denotes | Smad | NCBIGene:4086|NCBIGene:4090|NCBIGene:4093 |
12836 | 1655-1658 | DiseaseOrPhenotypicFeature | denotes | PAH | MESH:D000081029 |
12837 | 1662-1670 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
12838 | 1676-1686 | GeneOrGeneProduct | denotes | caveolin-1 | NCBIGene:857 |
12839 | 1687-1696 | SequenceVariant | denotes | c.474delA | DBSNP:rs587777017 |
LitCoin_Mondo
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 192-214 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypertension | 0005149 |
T2 | 298-339 | DiseaseOrPhenotypicFeature | denotes | heritable pulmonary arterial hypertension | 0017148 |
T3 | 308-339 | DiseaseOrPhenotypicFeature | denotes | pulmonary arterial hypertension | 0015924 |
LitCoin-SeqVar
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 119-128 | SequenceVariant | denotes | c.474delA |
T2 | 242-251 | SequenceVariant | denotes | c.474delA |
T3 | 681-690 | SequenceVariant | denotes | c.474delA |
T4 | 1355-1364 | SequenceVariant | denotes | c.474delA |
T5 | 1687-1696 | SequenceVariant | denotes | c.474delA |
LitCoin-GeneOrGeneProduct-v0
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 9-19 | GeneOrGeneProduct | denotes | caveolin-1 |
T2 | 20-28 | GeneOrGeneProduct | denotes | mediated |
T3 | 29-33 | GeneOrGeneProduct | denotes | Smad |
T4 | 109-117 | GeneOrGeneProduct | denotes | mutation |
T5 | 202-214 | GeneOrGeneProduct | denotes | hypertension |
T6 | 231-241 | GeneOrGeneProduct | denotes | caveolin-1 |
T7 | 252-260 | GeneOrGeneProduct | denotes | mutation |
T8 | 281-285 | GeneOrGeneProduct | denotes | in a |
T9 | 327-339 | GeneOrGeneProduct | denotes | hypertension |
T10 | 363-371 | GeneOrGeneProduct | denotes | mutation |
T11 | 383-401 | GeneOrGeneProduct | denotes | caveolin-1 protein |
T12 | 416-419 | GeneOrGeneProduct | denotes | all |
T13 | 449-454 | GeneOrGeneProduct | denotes | has a |
T14 | 483-494 | GeneOrGeneProduct | denotes | amino acids |
T15 | 504-512 | GeneOrGeneProduct | denotes | terminus |
T16 | 539-547 | GeneOrGeneProduct | denotes | mutation |
T17 | 555-565 | GeneOrGeneProduct | denotes | caveolin-1 |
T18 | 691-699 | GeneOrGeneProduct | denotes | mutation |
T19 | 737-744 | GeneOrGeneProduct | denotes | mutated |
T20 | 745-755 | GeneOrGeneProduct | denotes | caveolin-1 |
T21 | 759-769 | GeneOrGeneProduct | denotes | caveolin-1 |
T22 | 770-774 | GeneOrGeneProduct | denotes | null |
T23 | 803-809 | GeneOrGeneProduct | denotes | induce |
T24 | 810-819 | GeneOrGeneProduct | denotes | formation |
T25 | 856-863 | GeneOrGeneProduct | denotes | mutated |
T26 | 864-871 | GeneOrGeneProduct | denotes | protein |
T27 | 879-900 | GeneOrGeneProduct | denotes | endoplasmic reticulum |
T28 | 937-947 | GeneOrGeneProduct | denotes | caveolin-1 |
T29 | 953-960 | GeneOrGeneProduct | denotes | mutated |
T30 | 961-971 | GeneOrGeneProduct | denotes | caveolin-1 |
T31 | 1049-1057 | GeneOrGeneProduct | denotes | mutation |
T32 | 1144-1151 | GeneOrGeneProduct | denotes | Smad1/5 |
T33 | 1160-1168 | GeneOrGeneProduct | denotes | mutation |
T34 | 1212-1222 | GeneOrGeneProduct | denotes | caveolin-1 |
T35 | 1238-1244 | GeneOrGeneProduct | denotes | type I |
T36 | 1250-1259 | GeneOrGeneProduct | denotes | receptors |
T37 | 1260-1264 | GeneOrGeneProduct | denotes | ALK1 |
T38 | 1306-1313 | GeneOrGeneProduct | denotes | Smad1/5 |
T39 | 1316-1323 | GeneOrGeneProduct | denotes | reduced |
T40 | 1438-1449 | GeneOrGeneProduct | denotes | amino acids |
T41 | 1453-1463 | GeneOrGeneProduct | denotes | caveolin-1 |
T42 | 1506-1515 | GeneOrGeneProduct | denotes | dampening |
T43 | 1516-1520 | GeneOrGeneProduct | denotes | Smad |
T44 | 1558-1562 | GeneOrGeneProduct | denotes | Smad |
T45 | 1624-1631 | GeneOrGeneProduct | denotes | factors |
T46 | 1676-1686 | GeneOrGeneProduct | denotes | caveolin-1 |
T47 | 1697-1705 | GeneOrGeneProduct | denotes | mutation |
LitCoin-GeneOrGeneProduct-v2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 9-19 | GeneOrGeneProduct | denotes | caveolin-1 |
T2 | 29-33 | GeneOrGeneProduct | denotes | Smad |
T3 | 202-214 | GeneOrGeneProduct | denotes | hypertension |
T4 | 231-241 | GeneOrGeneProduct | denotes | caveolin-1 |
T5 | 327-339 | GeneOrGeneProduct | denotes | hypertension |
T6 | 383-401 | GeneOrGeneProduct | denotes | caveolin-1 protein |
T7 | 483-494 | GeneOrGeneProduct | denotes | amino acids |
T8 | 504-512 | GeneOrGeneProduct | denotes | terminus |
T9 | 555-565 | GeneOrGeneProduct | denotes | caveolin-1 |
T10 | 745-755 | GeneOrGeneProduct | denotes | caveolin-1 |
T11 | 759-769 | GeneOrGeneProduct | denotes | caveolin-1 |
T12 | 770-774 | GeneOrGeneProduct | denotes | null |
T13 | 864-871 | GeneOrGeneProduct | denotes | protein |
T14 | 879-900 | GeneOrGeneProduct | denotes | endoplasmic reticulum |
T15 | 937-947 | GeneOrGeneProduct | denotes | caveolin-1 |
T16 | 961-971 | GeneOrGeneProduct | denotes | caveolin-1 |
T17 | 1144-1151 | GeneOrGeneProduct | denotes | Smad1/5 |
T18 | 1212-1222 | GeneOrGeneProduct | denotes | caveolin-1 |
T19 | 1238-1244 | GeneOrGeneProduct | denotes | type I |
T20 | 1260-1264 | GeneOrGeneProduct | denotes | ALK1 |
T21 | 1306-1313 | GeneOrGeneProduct | denotes | Smad1/5 |
T22 | 1316-1323 | GeneOrGeneProduct | denotes | reduced |
T23 | 1438-1449 | GeneOrGeneProduct | denotes | amino acids |
T24 | 1453-1463 | GeneOrGeneProduct | denotes | caveolin-1 |
T25 | 1516-1520 | GeneOrGeneProduct | denotes | Smad |
T26 | 1558-1562 | GeneOrGeneProduct | denotes | Smad |
T27 | 1676-1686 | GeneOrGeneProduct | denotes | caveolin-1 |
LitCoin-Disease-MeSH
Id | Subject | Object | Predicate | Lexical cue | originalLabel |
---|---|---|---|---|---|
T1 | 192-214 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypertension | D006976 |
T2 | 298-339 | DiseaseOrPhenotypicFeature | denotes | heritable pulmonary arterial hypertension | D065627 |
T3 | 341-344 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 |
T4 | 1655-1658 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 |
LitCoin-GeneOrGeneProduct-v3
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 9-19 | GeneOrGeneProduct | denotes | caveolin-1 |
T2 | 29-33 | GeneOrGeneProduct | denotes | Smad |
T3 | 231-241 | GeneOrGeneProduct | denotes | caveolin-1 |
T4 | 383-401 | GeneOrGeneProduct | denotes | caveolin-1 protein |
T5 | 555-565 | GeneOrGeneProduct | denotes | caveolin-1 |
T6 | 745-755 | GeneOrGeneProduct | denotes | caveolin-1 |
T7 | 759-769 | GeneOrGeneProduct | denotes | caveolin-1 |
T8 | 937-947 | GeneOrGeneProduct | denotes | caveolin-1 |
T9 | 961-971 | GeneOrGeneProduct | denotes | caveolin-1 |
T10 | 1144-1151 | GeneOrGeneProduct | denotes | Smad1/5 |
T11 | 1212-1222 | GeneOrGeneProduct | denotes | caveolin-1 |
T12 | 1260-1264 | GeneOrGeneProduct | denotes | ALK1 |
T13 | 1306-1313 | GeneOrGeneProduct | denotes | Smad1/5 |
T14 | 1453-1463 | GeneOrGeneProduct | denotes | caveolin-1 |
T15 | 1516-1520 | GeneOrGeneProduct | denotes | Smad |
T16 | 1558-1562 | GeneOrGeneProduct | denotes | Smad |
T17 | 1676-1686 | GeneOrGeneProduct | denotes | caveolin-1 |
LitCoin_Mondo_095
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 192-214 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypertension | 0005149 |
T2 | 298-339 | DiseaseOrPhenotypicFeature | denotes | heritable pulmonary arterial hypertension | 0017148 |
T3 | 341-344 | DiseaseOrPhenotypicFeature | denotes | PAH | 0015924|0024533 |
T5 | 1655-1658 | DiseaseOrPhenotypicFeature | denotes | PAH | 0015924|0024533 |
LitCoin-MeSH-Disease-2
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 192-214 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypertension | D006976 |
T2 | 298-339 | DiseaseOrPhenotypicFeature | denotes | heritable pulmonary arterial hypertension | D065627 |
T3 | 341-344 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 |
T4 | 1655-1658 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 |
LitCoin-MONDO_bioort2019
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 192-214 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypertension | D006976 |
T2 | 298-339 | DiseaseOrPhenotypicFeature | denotes | heritable pulmonary arterial hypertension | D065627 |
T3 | 341-344 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 |
T4 | 1655-1658 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 |
LitCoin-Chemical-MeSH-CHEBI
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 88-95 | ChemicalEntity | denotes | adenine | D000225|http://purl.obolibrary.org/obo/CHEBI_16708 |
T3 | 341-344 | ChemicalEntity | denotes | PAH | http://purl.obolibrary.org/obo/CHEBI_53305|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_104011 |
T7 | 1655-1658 | ChemicalEntity | denotes | PAH | http://purl.obolibrary.org/obo/CHEBI_53305|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_104011 |
LitCoin-NCBITaxon-2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 133-140 | OrganismTaxon | denotes | patient |
T2 | 582-589 | OrganismTaxon | denotes | patient |
T3 | 775-780 | OrganismTaxon | denotes | mouse |
T4 | 1662-1670 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
---|---|---|---|---|---|---|
T7 | 1655-1658 | ChemicalEntity | denotes | PAH | http://purl.obolibrary.org/obo/CHEBI_104011|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_53305 | |
T3 | 341-344 | ChemicalEntity | denotes | PAH | http://purl.obolibrary.org/obo/CHEBI_104011|http://purl.obolibrary.org/obo/CHEBI_31204|http://purl.obolibrary.org/obo/CHEBI_33848|http://purl.obolibrary.org/obo/CHEBI_53305 | |
T1 | 88-95 | ChemicalEntity | denotes | adenine | http://purl.obolibrary.org/obo/CHEBI_16708|D000225 | |
T17 | 1676-1686 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T16 | 1558-1562 | GeneOrGeneProduct | denotes | Smad | ||
T15 | 1516-1520 | GeneOrGeneProduct | denotes | Smad | ||
T14 | 1453-1463 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T13 | 1306-1313 | GeneOrGeneProduct | denotes | Smad1/5 | ||
T12 | 1260-1264 | GeneOrGeneProduct | denotes | ALK1 | ||
T11 | 1212-1222 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T10 | 1144-1151 | GeneOrGeneProduct | denotes | Smad1/5 | ||
T9 | 961-971 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T8 | 937-947 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T96878 | 759-769 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T6 | 745-755 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T5 | 555-565 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T4 | 383-401 | GeneOrGeneProduct | denotes | caveolin-1 protein | ||
T95750 | 231-241 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T2 | 29-33 | GeneOrGeneProduct | denotes | Smad | ||
T74967 | 9-19 | GeneOrGeneProduct | denotes | caveolin-1 | ||
T70693 | 1655-1658 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 | |
T56048 | 341-344 | DiseaseOrPhenotypicFeature | denotes | PAH | D000081029 | |
T9384 | 298-339 | DiseaseOrPhenotypicFeature | denotes | heritable pulmonary arterial hypertension | D065627 | |
T25700 | 192-214 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypertension | D006976 | |
T92895 | 1662-1670 | OrganismTaxon | denotes | patients | ||
T2973 | 775-780 | OrganismTaxon | denotes | mouse | ||
T12946 | 582-589 | OrganismTaxon | denotes | patient | ||
T15543 | 133-140 | OrganismTaxon | denotes | patient | ||
T22226 | 1687-1696 | SequenceVariant | denotes | c.474delA | ||
T3689 | 1355-1364 | SequenceVariant | denotes | c.474delA | ||
T2837 | 681-690 | SequenceVariant | denotes | c.474delA | ||
T65793 | 242-251 | SequenceVariant | denotes | c.474delA | ||
T48410 | 119-128 | SequenceVariant | denotes | c.474delA |