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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-174 Sentence denotes A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.
T2 175-183 Sentence denotes CONTEXT:
T3 184-392 Sentence denotes Generalized glucocorticoid resistance syndrome is a rare familial or sporadic condition characterized by partial insensitivity to glucocorticoids, caused by mutations in the glucocorticoid receptor (GR) gene.
T4 393-600 Sentence denotes Most of the reported cases are adults, demonstrating symptoms associated with mineralocorticoid and/or adrenal androgen excess caused by compensatively increased secretion of the adrenocorticotropic hormone.
T5 601-609 Sentence denotes PATIENT:
T6 610-701 Sentence denotes We identified a new 2-yr-old female case of generalized glucocorticoid resistance syndrome.
T7 702-801 Sentence denotes The patient (TJ) presented with a generalized seizure associated with hypoglycemia and hypokalemia.
T8 802-927 Sentence denotes She also had hypertension and premature pubarche, whereas dexamethasone effectively suppressed these clinical manifestations.
T9 928-936 Sentence denotes RESULTS:
T10 937-1168 Sentence denotes The patient's GR gene had a heterozygotic mutation (G-->A) at nucleotide position 2141 (exon 8), which resulted in substitution of arginine by glutamine at amino acid position 714 in the ligand-binding domain (LBD) of the GR alpha.
T11 1169-1320 Sentence denotes Molecular analysis revealed that the mutant receptor had significantly impaired transactivation activity with a 2-fold reduction in affinity to ligand.
T12 1321-1451 Sentence denotes It showed attenuated transactivation of the activation function (AF)-2 and reduced binding to a p160 nuclear receptor coactivator.
T13 1452-1726 Sentence denotes Computer-based structural analysis revealed that replacement of arginine by glutamine at position 714 transmitted a conformational change to the LBD and the AF-2 transactivation surface, resulting in a decreased binding affinity to ligand and to the LXXLL coactivator motif.
T14 1727-1739 Sentence denotes CONCLUSIONS:
T15 1740-2012 Sentence denotes Dexamethasone treatment is effective in controlling the premature pubarche, hypoglycemia, hypertension, and hypokalemia in this child case, wherein arginine 714 plays a key role in the proper formation of the ligand-binding pocket and the AF-2 surface of the GR alpha LBD.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 42-47 OrganismTaxon denotes human NCBItxid:9606

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
7169 42-47 OrganismTaxon denotes human NCBITaxon:9606
7170 48-71 GeneOrGeneProduct denotes glucocorticoid receptor NCBIGene:2908
7171 91-116 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance MESH:C564221
7172 196-221 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance MESH:C564221
7173 314-329 ChemicalEntity denotes glucocorticoids MESH:D005938
7174 358-381 GeneOrGeneProduct denotes glucocorticoid receptor NCBIGene:2908
7175 383-385 GeneOrGeneProduct denotes GR NCBIGene:2908
7176 471-488 ChemicalEntity denotes mineralocorticoid MESH:D008901
7177 504-512 ChemicalEntity denotes androgen MESH:D000728
7178 601-608 OrganismTaxon denotes PATIENT NCBITaxon:9606
7179 666-691 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance MESH:C564221
7180 706-713 OrganismTaxon denotes patient NCBITaxon:9606
7181 748-755 DiseaseOrPhenotypicFeature denotes seizure MESH:D012640
7182 772-784 DiseaseOrPhenotypicFeature denotes hypoglycemia MESH:D007003
7183 789-800 DiseaseOrPhenotypicFeature denotes hypokalemia MESH:D007008
7184 815-827 DiseaseOrPhenotypicFeature denotes hypertension MESH:D006973
7185 832-850 DiseaseOrPhenotypicFeature denotes premature pubarche MESH:C567552
7186 860-873 ChemicalEntity denotes dexamethasone MESH:D003907
7187 941-948 OrganismTaxon denotes patient NCBITaxon:9606
7188 951-953 GeneOrGeneProduct denotes GR NCBIGene:2908
7189 988-1023 SequenceVariant denotes (G-->A) at nucleotide position 2141 c|SUB|G|2141|A
7190 1068-1116 SequenceVariant denotes arginine by glutamine at amino acid position 714 c|SUB|R|714|Q
7191 1159-1167 GeneOrGeneProduct denotes GR alpha NCBIGene:2908
7192 1417-1450 GeneOrGeneProduct denotes p160 nuclear receptor coactivator NCBIGene:8648
7193 1516-1553 SequenceVariant denotes arginine by glutamine at position 714 c|SUB|R|714|Q
7194 1740-1753 ChemicalEntity denotes Dexamethasone MESH:D003907
7195 1796-1814 DiseaseOrPhenotypicFeature denotes premature pubarche MESH:C567552
7196 1816-1828 DiseaseOrPhenotypicFeature denotes hypoglycemia MESH:D007003
7197 1830-1842 DiseaseOrPhenotypicFeature denotes hypertension MESH:D006973
7198 1848-1859 DiseaseOrPhenotypicFeature denotes hypokalemia MESH:D007008
7199 1888-1900 SequenceVariant denotes arginine 714 c|Allele|R|714
7200 1999-2007 GeneOrGeneProduct denotes GR alpha NCBIGene:2908

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 91-116 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance 0014421
T2 196-221 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance 0014421
T3 236-240 DiseaseOrPhenotypicFeature denotes rare 0021136
T4 666-691 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance 0014421
T5 772-784 DiseaseOrPhenotypicFeature denotes hypoglycemia 0004946
T6 1816-1828 DiseaseOrPhenotypicFeature denotes hypoglycemia 0004946

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 989-994 SequenceVariant denotes G-->A

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 8-13 GeneOrGeneProduct denotes point
T3 14-22 GeneOrGeneProduct denotes mutation
T4 26-31 GeneOrGeneProduct denotes helix
T5 48-71 GeneOrGeneProduct denotes glucocorticoid receptor
T6 120-130 GeneOrGeneProduct denotes disrupting
T7 159-166 GeneOrGeneProduct denotes binding
T8 222-230 GeneOrGeneProduct denotes syndrome
T9 236-240 GeneOrGeneProduct denotes rare
T10 297-310 GeneOrGeneProduct denotes insensitivity
T11 338-350 GeneOrGeneProduct denotes by mutations
T12 358-381 GeneOrGeneProduct denotes glucocorticoid receptor
T13 383-385 GeneOrGeneProduct denotes GR
T14 414-423 GeneOrGeneProduct denotes cases are
T15 513-519 GeneOrGeneProduct denotes excess
T16 555-564 GeneOrGeneProduct denotes secretion
T17 572-599 GeneOrGeneProduct denotes adrenocorticotropic hormone
T18 626-631 GeneOrGeneProduct denotes new 2
T19 646-650 GeneOrGeneProduct denotes case
T20 692-700 GeneOrGeneProduct denotes syndrome
T21 748-755 GeneOrGeneProduct denotes seizure
T22 815-827 GeneOrGeneProduct denotes hypertension
T23 951-953 GeneOrGeneProduct denotes GR
T24 959-964 GeneOrGeneProduct denotes had a
T25 979-987 GeneOrGeneProduct denotes mutation
T26 1080-1089 GeneOrGeneProduct denotes glutamine
T27 1093-1103 GeneOrGeneProduct denotes amino acid
T28 1131-1138 GeneOrGeneProduct denotes binding
T29 1159-1161 GeneOrGeneProduct denotes GR
T30 1162-1167 GeneOrGeneProduct denotes alpha
T31 1206-1212 GeneOrGeneProduct denotes mutant
T32 1213-1221 GeneOrGeneProduct denotes receptor
T33 1249-1264 GeneOrGeneProduct denotes transactivation
T34 1265-1273 GeneOrGeneProduct denotes activity
T35 1279-1282 GeneOrGeneProduct denotes a 2
T36 1283-1287 GeneOrGeneProduct denotes fold
T37 1331-1341 GeneOrGeneProduct denotes attenuated
T38 1342-1357 GeneOrGeneProduct denotes transactivation
T39 1365-1375 GeneOrGeneProduct denotes activation
T40 1396-1403 GeneOrGeneProduct denotes reduced
T41 1404-1411 GeneOrGeneProduct denotes binding
T42 1417-1421 GeneOrGeneProduct denotes p160
T43 1422-1450 GeneOrGeneProduct denotes nuclear receptor coactivator
T44 1461-1466 GeneOrGeneProduct denotes based
T45 1528-1537 GeneOrGeneProduct denotes glutamine
T46 1614-1629 GeneOrGeneProduct denotes transactivation
T47 1630-1637 GeneOrGeneProduct denotes surface
T48 1649-1653 GeneOrGeneProduct denotes in a
T49 1664-1671 GeneOrGeneProduct denotes binding
T50 1830-1842 GeneOrGeneProduct denotes hypertension
T51 1874-1878 GeneOrGeneProduct denotes case
T52 1932-1941 GeneOrGeneProduct denotes formation
T53 1956-1963 GeneOrGeneProduct denotes binding
T54 1984-1991 GeneOrGeneProduct denotes surface
T55 1999-2001 GeneOrGeneProduct denotes GR
T56 2002-2007 GeneOrGeneProduct denotes alpha

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 26-31 GeneOrGeneProduct denotes helix
T3 48-71 GeneOrGeneProduct denotes glucocorticoid receptor
T4 159-166 GeneOrGeneProduct denotes binding
T5 222-230 GeneOrGeneProduct denotes syndrome
T6 236-240 GeneOrGeneProduct denotes rare
T7 358-381 GeneOrGeneProduct denotes glucocorticoid receptor
T8 383-385 GeneOrGeneProduct denotes GR
T9 572-599 GeneOrGeneProduct denotes adrenocorticotropic hormone
T10 626-631 GeneOrGeneProduct denotes new 2
T11 692-700 GeneOrGeneProduct denotes syndrome
T12 748-755 GeneOrGeneProduct denotes seizure
T13 815-827 GeneOrGeneProduct denotes hypertension
T14 951-953 GeneOrGeneProduct denotes GR
T15 1080-1089 GeneOrGeneProduct denotes glutamine
T16 1093-1103 GeneOrGeneProduct denotes amino acid
T17 1131-1138 GeneOrGeneProduct denotes binding
T18 1159-1161 GeneOrGeneProduct denotes GR
T19 1162-1167 GeneOrGeneProduct denotes alpha
T20 1206-1212 GeneOrGeneProduct denotes mutant
T21 1213-1221 GeneOrGeneProduct denotes receptor
T22 1283-1287 GeneOrGeneProduct denotes fold
T23 1331-1341 GeneOrGeneProduct denotes attenuated
T24 1396-1403 GeneOrGeneProduct denotes reduced
T25 1404-1411 GeneOrGeneProduct denotes binding
T26 1417-1421 GeneOrGeneProduct denotes p160
T27 1422-1450 GeneOrGeneProduct denotes nuclear receptor coactivator
T28 1528-1537 GeneOrGeneProduct denotes glutamine
T29 1630-1637 GeneOrGeneProduct denotes surface
T30 1664-1671 GeneOrGeneProduct denotes binding
T31 1830-1842 GeneOrGeneProduct denotes hypertension
T32 1956-1963 GeneOrGeneProduct denotes binding
T33 1984-1991 GeneOrGeneProduct denotes surface
T34 1999-2001 GeneOrGeneProduct denotes GR
T35 2002-2007 GeneOrGeneProduct denotes alpha

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 91-116 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T2 196-221 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T3 222-230 DiseaseOrPhenotypicFeature denotes syndrome D013577
T4 504-512 DiseaseOrPhenotypicFeature denotes androgen D014770
T5 666-691 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T6 692-700 DiseaseOrPhenotypicFeature denotes syndrome D013577
T7 736-755 DiseaseOrPhenotypicFeature denotes generalized seizure D012640
T8 772-784 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T9 789-800 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T10 815-827 DiseaseOrPhenotypicFeature denotes hypertension D006973
T11 1816-1828 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T12 1830-1842 DiseaseOrPhenotypicFeature denotes hypertension D006973
T13 1848-1859 DiseaseOrPhenotypicFeature denotes hypokalemia D007008

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 48-71 GeneOrGeneProduct denotes glucocorticoid receptor
T2 358-381 GeneOrGeneProduct denotes glucocorticoid receptor
T3 383-385 GeneOrGeneProduct denotes GR
T4 572-599 GeneOrGeneProduct denotes adrenocorticotropic hormone
T5 626-631 GeneOrGeneProduct denotes new 2
T6 951-953 GeneOrGeneProduct denotes GR
T7 1159-1161 GeneOrGeneProduct denotes GR
T8 1162-1167 GeneOrGeneProduct denotes alpha
T9 1417-1421 GeneOrGeneProduct denotes p160
T10 1422-1450 GeneOrGeneProduct denotes nuclear receptor coactivator
T11 1999-2001 GeneOrGeneProduct denotes GR
T12 2002-2007 GeneOrGeneProduct denotes alpha

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 91-116 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance 0014421
T2 196-221 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance 0014421
T3 222-230 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T4 666-691 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance 0014421
T5 692-700 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T6 772-784 DiseaseOrPhenotypicFeature denotes hypoglycemia 0004946
T7 789-800 DiseaseOrPhenotypicFeature denotes hypokalemia 0003019
T8 815-827 DiseaseOrPhenotypicFeature denotes hypertension 0005044
T9 1386-1388 DiseaseOrPhenotypicFeature denotes AF 0004981
T10 1609-1611 DiseaseOrPhenotypicFeature denotes AF 0004981
T11 1816-1828 DiseaseOrPhenotypicFeature denotes hypoglycemia 0004946
T12 1830-1842 DiseaseOrPhenotypicFeature denotes hypertension 0005044
T13 1848-1859 DiseaseOrPhenotypicFeature denotes hypokalemia 0003019
T14 1868-1873 DiseaseOrPhenotypicFeature denotes child 0017015
T15 1979-1981 DiseaseOrPhenotypicFeature denotes AF 0004981

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 91-116 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T2 196-221 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T3 222-230 DiseaseOrPhenotypicFeature denotes syndrome D013577
T4 666-691 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T5 692-700 DiseaseOrPhenotypicFeature denotes syndrome D013577
T6 736-755 DiseaseOrPhenotypicFeature denotes generalized seizure D012640
T7 772-784 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T8 789-800 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T9 815-827 DiseaseOrPhenotypicFeature denotes hypertension D006973
T10 832-850 DiseaseOrPhenotypicFeature denotes premature pubarche DISEASE
T11 1796-1814 DiseaseOrPhenotypicFeature denotes premature pubarche DISEASE
T12 1816-1828 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T13 1830-1842 DiseaseOrPhenotypicFeature denotes hypertension D006973
T14 1848-1859 DiseaseOrPhenotypicFeature denotes hypokalemia D007008

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 91-116 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T2 196-221 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T3 666-691 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T4 736-755 DiseaseOrPhenotypicFeature denotes generalized seizure D012640
T5 772-784 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T6 789-800 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T7 815-827 DiseaseOrPhenotypicFeature denotes hypertension D006973
T8 832-850 DiseaseOrPhenotypicFeature denotes premature pubarche DISEASE
T9 1796-1814 DiseaseOrPhenotypicFeature denotes premature pubarche DISEASE
T10 1816-1828 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T11 1830-1842 DiseaseOrPhenotypicFeature denotes hypertension D006973
T12 1848-1859 DiseaseOrPhenotypicFeature denotes hypokalemia D007008

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 48-62 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T2 91-105 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T3 196-210 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T4 314-329 ChemicalEntity denotes glucocorticoids http://purl.obolibrary.org/obo/CHEBI_24261
T5 358-372 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T6 471-488 ChemicalEntity denotes mineralocorticoid http://purl.obolibrary.org/obo/CHEBI_25354
T7 504-512 ChemicalEntity denotes androgen ChemicalEntity
T8 572-599 ChemicalEntity denotes adrenocorticotropic hormone http://purl.obolibrary.org/obo/CHEBI_3892
T9 666-680 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T10 860-873 ChemicalEntity denotes dexamethasone D003907|http://purl.obolibrary.org/obo/CHEBI_41879
T12 1068-1076 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T15 1080-1089 ChemicalEntity denotes glutamine http://purl.obolibrary.org/obo/CHEBI_28300
T16 1516-1524 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T19 1528-1537 ChemicalEntity denotes glutamine http://purl.obolibrary.org/obo/CHEBI_28300
T20 1609-1613 ChemicalEntity denotes AF-2 D005668|http://purl.obolibrary.org/obo/CHEBI_15660
T22 1740-1753 ChemicalEntity denotes Dexamethasone http://purl.obolibrary.org/obo/CHEBI_41879
T23 1888-1896 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T26 1979-1983 ChemicalEntity denotes AF-2 D005668|http://purl.obolibrary.org/obo/CHEBI_15660

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 42-47 OrganismTaxon denotes human
T2 601-608 OrganismTaxon denotes PATIENT
T3 706-713 OrganismTaxon denotes patient

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T26 1979-1983 ChemicalEntity denotes AF-2 http://purl.obolibrary.org/obo/CHEBI_15660|D005668
T23 1888-1896 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T22 1740-1753 ChemicalEntity denotes Dexamethasone http://purl.obolibrary.org/obo/CHEBI_41879
T20 1609-1613 ChemicalEntity denotes AF-2 http://purl.obolibrary.org/obo/CHEBI_15660|D005668
T19 1528-1537 ChemicalEntity denotes glutamine http://purl.obolibrary.org/obo/CHEBI_28300
T16 1516-1524 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T15 1080-1089 ChemicalEntity denotes glutamine http://purl.obolibrary.org/obo/CHEBI_28300
T12 1068-1076 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T10 860-873 ChemicalEntity denotes dexamethasone http://purl.obolibrary.org/obo/CHEBI_41879|D003907
T9 666-680 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T8 572-599 ChemicalEntity denotes adrenocorticotropic hormone http://purl.obolibrary.org/obo/CHEBI_3892
T7 504-512 ChemicalEntity denotes androgen ChemicalEntity
T6 471-488 ChemicalEntity denotes mineralocorticoid http://purl.obolibrary.org/obo/CHEBI_25354
T5 358-372 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T4 314-329 ChemicalEntity denotes glucocorticoids http://purl.obolibrary.org/obo/CHEBI_24261
T3 196-210 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T2 91-105 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T1 48-62 ChemicalEntity denotes glucocorticoid http://purl.obolibrary.org/obo/CHEBI_24261
T56936 2002-2007 GeneOrGeneProduct denotes alpha
T11 1999-2001 GeneOrGeneProduct denotes GR
T7920 1422-1450 GeneOrGeneProduct denotes nuclear receptor coactivator
T58131 1417-1421 GeneOrGeneProduct denotes p160
T53039 1162-1167 GeneOrGeneProduct denotes alpha
T62388 1159-1161 GeneOrGeneProduct denotes GR
T71033 951-953 GeneOrGeneProduct denotes GR
T82120 626-631 GeneOrGeneProduct denotes new 2
T31110 572-599 GeneOrGeneProduct denotes adrenocorticotropic hormone
T51525 383-385 GeneOrGeneProduct denotes GR
T49901 358-381 GeneOrGeneProduct denotes glucocorticoid receptor
T79551 48-71 GeneOrGeneProduct denotes glucocorticoid receptor
T51646 1848-1859 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T30859 1830-1842 DiseaseOrPhenotypicFeature denotes hypertension D006973
T40768 1816-1828 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T10456 1796-1814 DiseaseOrPhenotypicFeature denotes premature pubarche DISEASE
T1223 832-850 DiseaseOrPhenotypicFeature denotes premature pubarche DISEASE
T73851 815-827 DiseaseOrPhenotypicFeature denotes hypertension D006973
T2792 789-800 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T62507 772-784 DiseaseOrPhenotypicFeature denotes hypoglycemia D007003
T68047 736-755 DiseaseOrPhenotypicFeature denotes generalized seizure D012640
T69186 666-691 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T60050 196-221 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T26499 91-116 DiseaseOrPhenotypicFeature denotes glucocorticoid resistance C564221
T89580 706-713 OrganismTaxon denotes patient
T57401 601-608 OrganismTaxon denotes PATIENT
T11468 42-47 OrganismTaxon denotes human
T45194 989-994 SequenceVariant denotes G-->A

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-174 Sentence denotes A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.
TextSentencer_T2 175-183 Sentence denotes CONTEXT:
TextSentencer_T3 184-392 Sentence denotes Generalized glucocorticoid resistance syndrome is a rare familial or sporadic condition characterized by partial insensitivity to glucocorticoids, caused by mutations in the glucocorticoid receptor (GR) gene.
TextSentencer_T4 393-600 Sentence denotes Most of the reported cases are adults, demonstrating symptoms associated with mineralocorticoid and/or adrenal androgen excess caused by compensatively increased secretion of the adrenocorticotropic hormone.
TextSentencer_T5 601-609 Sentence denotes PATIENT:
TextSentencer_T6 610-701 Sentence denotes We identified a new 2-yr-old female case of generalized glucocorticoid resistance syndrome.
TextSentencer_T7 702-801 Sentence denotes The patient (TJ) presented with a generalized seizure associated with hypoglycemia and hypokalemia.
TextSentencer_T8 802-927 Sentence denotes She also had hypertension and premature pubarche, whereas dexamethasone effectively suppressed these clinical manifestations.
TextSentencer_T9 928-936 Sentence denotes RESULTS:
TextSentencer_T10 937-1168 Sentence denotes The patient's GR gene had a heterozygotic mutation (G-->A) at nucleotide position 2141 (exon 8), which resulted in substitution of arginine by glutamine at amino acid position 714 in the ligand-binding domain (LBD) of the GR alpha.
TextSentencer_T11 1169-1320 Sentence denotes Molecular analysis revealed that the mutant receptor had significantly impaired transactivation activity with a 2-fold reduction in affinity to ligand.
TextSentencer_T12 1321-1451 Sentence denotes It showed attenuated transactivation of the activation function (AF)-2 and reduced binding to a p160 nuclear receptor coactivator.
TextSentencer_T13 1452-1726 Sentence denotes Computer-based structural analysis revealed that replacement of arginine by glutamine at position 714 transmitted a conformational change to the LBD and the AF-2 transactivation surface, resulting in a decreased binding affinity to ligand and to the LXXLL coactivator motif.
TextSentencer_T14 1727-1739 Sentence denotes CONCLUSIONS:
TextSentencer_T15 1740-2012 Sentence denotes Dexamethasone treatment is effective in controlling the premature pubarche, hypoglycemia, hypertension, and hypokalemia in this child case, wherein arginine 714 plays a key role in the proper formation of the ligand-binding pocket and the AF-2 surface of the GR alpha LBD.
T1 0-174 Sentence denotes A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain.
T2 175-183 Sentence denotes CONTEXT:
T3 184-392 Sentence denotes Generalized glucocorticoid resistance syndrome is a rare familial or sporadic condition characterized by partial insensitivity to glucocorticoids, caused by mutations in the glucocorticoid receptor (GR) gene.
T4 393-600 Sentence denotes Most of the reported cases are adults, demonstrating symptoms associated with mineralocorticoid and/or adrenal androgen excess caused by compensatively increased secretion of the adrenocorticotropic hormone.
T5 601-609 Sentence denotes PATIENT:
T6 610-701 Sentence denotes We identified a new 2-yr-old female case of generalized glucocorticoid resistance syndrome.
T7 702-801 Sentence denotes The patient (TJ) presented with a generalized seizure associated with hypoglycemia and hypokalemia.
T8 802-927 Sentence denotes She also had hypertension and premature pubarche, whereas dexamethasone effectively suppressed these clinical manifestations.
T9 928-936 Sentence denotes RESULTS:
T10 937-1168 Sentence denotes The patient's GR gene had a heterozygotic mutation (G-->A) at nucleotide position 2141 (exon 8), which resulted in substitution of arginine by glutamine at amino acid position 714 in the ligand-binding domain (LBD) of the GR alpha.
T11 1169-1320 Sentence denotes Molecular analysis revealed that the mutant receptor had significantly impaired transactivation activity with a 2-fold reduction in affinity to ligand.
T12 1321-1451 Sentence denotes It showed attenuated transactivation of the activation function (AF)-2 and reduced binding to a p160 nuclear receptor coactivator.
T13 1452-1726 Sentence denotes Computer-based structural analysis revealed that replacement of arginine by glutamine at position 714 transmitted a conformational change to the LBD and the AF-2 transactivation surface, resulting in a decreased binding affinity to ligand and to the LXXLL coactivator motif.
T14 1727-1739 Sentence denotes CONCLUSIONS:
T15 1740-2012 Sentence denotes Dexamethasone treatment is effective in controlling the premature pubarche, hypoglycemia, hypertension, and hypokalemia in this child case, wherein arginine 714 plays a key role in the proper formation of the ligand-binding pocket and the AF-2 surface of the GR alpha LBD.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 48-71 gene:2908 denotes glucocorticoid receptor
T1 91-116 disease:C1841972 denotes glucocorticoid resistance
R1 T0 T1 associated_with glucocorticoid receptor,glucocorticoid resistance

Allie

Id Subject Object Predicate Lexical cue
SS1_20335448_2_0 358-381 expanded denotes glucocorticoid receptor
SS2_20335448_2_0 383-385 abbr denotes GR
SS1_20335448_9_0 1124-1145 expanded denotes ligand-binding domain
SS2_20335448_9_0 1147-1150 abbr denotes LBD
SS1_20335448_11_0 1365-1384 expanded denotes activation function
SS2_20335448_11_0 1386-1388 abbr denotes AF
AE1_20335448_2_0 SS1_20335448_2_0 SS2_20335448_2_0 abbreviatedTo glucocorticoid receptor,GR
AE1_20335448_9_0 SS1_20335448_9_0 SS2_20335448_9_0 abbreviatedTo ligand-binding domain,LBD
AE1_20335448_11_0 SS1_20335448_11_0 SS2_20335448_11_0 abbreviatedTo activation function,AF

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20335448-0#48#71#gene2908 48-71 gene2908 denotes glucocorticoid receptor
20335448-0#79#116#diseaseC1841972 79-116 diseaseC1841972 denotes generalized glucocorticoid resistance
48#71#gene290879#116#diseaseC1841972 20335448-0#48#71#gene2908 20335448-0#79#116#diseaseC1841972 associated_with glucocorticoid receptor,generalized glucocorticoid resistance

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 26-31 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 26-31 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 736-755 HP:0002197 denotes generalized seizure
AB2 772-784 HP:0001943 denotes hypoglycemia
AB3 789-800 HP:0002900 denotes hypokalemia
AB4 815-827 HP:0000822 denotes hypertension
AB5 832-850 HP:0012411 denotes premature pubarche
AB6 1796-1814 HP:0012411 denotes premature pubarche
AB7 1816-1828 HP:0001943 denotes hypoglycemia
AB8 1830-1842 HP:0000822 denotes hypertension
AB9 1848-1859 HP:0002900 denotes hypokalemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 196-221 ORDO:786 denotes glucocorticoid resistance
TI1 91-116 ORDO:786 denotes glucocorticoid resistance
AB2 666-691 ORDO:786 denotes glucocorticoid resistance

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 988-1023 DNAMutation:c|SUB|G|2141|A denotes (G-->A) at nucleotide position 2141