| 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. |
| 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: |
| 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. |
| 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. |
| 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: |
| 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. |
| 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. |
| 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. |
| 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: |
| 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. |
| 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. |
| 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. |
| 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. |
| 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: |
| 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. |
| 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. |