PubMed:21937424 JSON TXT

Annnotations TAB JSON ListView MergeView

sentences

Id	Subject	Object	Predicate	Lexical cue
T1	0-145	Sentence	denotes	The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
T2	146-283	Sentence	denotes	Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) and are linked to the autoimmune disease systemic lupus erythematosus.
T3	284-395	Sentence	denotes	The TREX1 protein is a dimeric 3' DNA exonuclease that degrades DNA to prevent inappropriate immune activation.
T4	396-577	Sentence	denotes	One of the most common TREX1 mutations, R114H, causes AGS as a homozygous and compound heterozygous mutation and is found as a heterozygous mutation in systemic lupus erythematosus.
T5	578-825	Sentence	denotes	The TREX1 proteins containing R114H and the insertion mutations aspartate at position 201 (D201ins) and alanine at position 124 (A124ins), found in compound heterozygous AGS with R114H, were prepared and the DNA degradation activities were tested.
T6	826-957	Sentence	denotes	The homodimer TREX1(R114H/R114H) exhibits a 23-fold reduced single-stranded DNA (ssDNA) exonuclease activity relative to TREX1(WT).
T7	958-1079	Sentence	denotes	The TREX1(D201ins/D201ins) and TREX1(A124ins/A124ins) exhibit more than 10,000-fold reduced ssDNA degradation activities.
T8	1080-1291	Sentence	denotes	However, the TREX1(R114H/D201ins) and TREX1(R114H/A124ins) compound heterodimers exhibit activities 10-fold greater than the TREX1(R114H/R114H) homodimer during ssDNA and double-stranded DNA (dsDNA) degradation.
T9	1292-1587	Sentence	denotes	These higher levels of activities measured in the TREX1(R114H/D201ins) and TREX1(R114H/A124ins) compound heterodimers are attributed to Arg-114 residues of TREX1(D201ins) and TREX1(A124ins) positioned at the dimer interface contributing to the active sites of the opposing TREX1(R114H) protomer.
T10	1588-1719	Sentence	denotes	This interpretation is further supported by exonuclease activities measured for TREX1 enzymes containing R114A and R114K mutations.
T11	1720-1956	Sentence	denotes	These biochemical data provide direct evidence for TREX1 residues in one protomer contributing to DNA degradation catalyzed in the opposing protomer and help to explain the dimeric TREX1 structure required for full catalytic competency.

DisGeNET

Id	Subject	Object	Predicate	Lexical cue
T0	4-9	gene:11277	denotes	TREX1
T1	40-66	disease:C0796126	denotes	Aicardi-Goutières syndrome
T2	4-9	gene:11277	denotes	TREX1
T3	71-76	disease:C0024141	denotes	lupus
T4	4-9	gene:11277	denotes	TREX1
T5	71-76	disease:C0024138	denotes	lupus
T6	4-9	gene:11277	denotes	TREX1
T7	71-76	disease:C0024131	denotes	lupus
T8	4-9	gene:11277	denotes	TREX1
T9	71-76	disease:C0409974	denotes	lupus
T10	4-9	gene:11277	denotes	TREX1
T11	40-66	disease:C0393591	denotes	Aicardi-Goutières syndrome
T12	163-168	gene:11277	denotes	TREX1
T13	254-282	disease:C0024141	denotes	systemic lupus erythematosus
T14	163-168	gene:11277	denotes	TREX1
T15	235-253	disease:C0004364	denotes	autoimmune disease
T16	163-168	gene:11277	denotes	TREX1
T17	180-206	disease:C0796126	denotes	Aicardi-Goutières syndrome
T18	419-424	gene:11277	denotes	TREX1
T19	548-576	disease:C0024141	denotes	systemic lupus erythematosus
T20	582-587	gene:11277	denotes	TREX1
T21	748-751	disease:C0796126	denotes	AGS
R1	T0	T1	associated_with	TREX1,Aicardi-Goutières syndrome
R2	T2	T3	associated_with	TREX1,lupus
R3	T4	T5	associated_with	TREX1,lupus
R4	T6	T7	associated_with	TREX1,lupus
R5	T8	T9	associated_with	TREX1,lupus
R6	T10	T11	associated_with	TREX1,Aicardi-Goutières syndrome
R7	T12	T13	associated_with	TREX1,systemic lupus erythematosus
R8	T14	T15	associated_with	TREX1,autoimmune disease
R9	T16	T17	associated_with	TREX1,Aicardi-Goutières syndrome
R10	T18	T19	associated_with	TREX1,systemic lupus erythematosus
R11	T20	T21	associated_with	TREX1,AGS

PubmedHPO

Id	Subject	Object	Predicate	Lexical cue
T1	235-245	HP_0002960	denotes	autoimmune
T2	235-253	HP_0002960	denotes	autoimmune disease
T3	254-282	HP_0002725	denotes	systemic lupus erythematosus
T4	548-576	HP_0002725	denotes	systemic lupus erythematosus

Allie

Id	Subject	Object	Predicate	Lexical cue
SS1_21937424_1_0	180-206	expanded	denotes	Aicardi-Goutières syndrome
SS2_21937424_1_0	208-211	abbr	denotes	AGS
SS1_21937424_5_0	886-905	expanded	denotes	single-stranded DNA
SS2_21937424_5_0	907-912	abbr	denotes	ssDNA
SS1_21937424_7_0	1251-1270	expanded	denotes	double-stranded DNA
SS2_21937424_7_0	1272-1277	abbr	denotes	dsDNA
AE1_21937424_1_0	SS1_21937424_1_0	SS2_21937424_1_0	abbreviatedTo	Aicardi-Goutières syndrome,AGS
AE1_21937424_5_0	SS1_21937424_5_0	SS2_21937424_5_0	abbreviatedTo	single-stranded DNA,ssDNA
AE1_21937424_7_0	SS1_21937424_7_0	SS2_21937424_7_0	abbreviatedTo	double-stranded DNA,dsDNA

DisGeNET5_variant_disease

Id	Subject	Object	Predicate	Lexical cue
21937424-0#22#27#geners72556554	22-27	geners72556554	denotes	R114H
21937424-0#40#66#diseaseC0393591	40-66	diseaseC0393591	denotes	Aicardi-Goutières syndrome
21937424-0#40#66#diseaseC0796126	40-66	diseaseC0796126	denotes	Aicardi-Goutières syndrome
21937424-0#71#76#diseaseC0024131	71-76	diseaseC0024131	denotes	lupus
21937424-0#71#76#diseaseC0024138	71-76	diseaseC0024138	denotes	lupus
21937424-0#71#76#diseaseC0024141	71-76	diseaseC0024141	denotes	lupus
21937424-0#71#76#diseaseC0409974	71-76	diseaseC0409974	denotes	lupus
22#27#geners7255655440#66#diseaseC0393591	21937424-0#22#27#geners72556554	21937424-0#40#66#diseaseC0393591	associated_with	R114H,Aicardi-Goutières syndrome
22#27#geners7255655440#66#diseaseC0796126	21937424-0#22#27#geners72556554	21937424-0#40#66#diseaseC0796126	associated_with	R114H,Aicardi-Goutières syndrome
22#27#geners7255655471#76#diseaseC0024131	21937424-0#22#27#geners72556554	21937424-0#71#76#diseaseC0024131	associated_with	R114H,lupus
22#27#geners7255655471#76#diseaseC0024138	21937424-0#22#27#geners72556554	21937424-0#71#76#diseaseC0024138	associated_with	R114H,lupus
22#27#geners7255655471#76#diseaseC0024141	21937424-0#22#27#geners72556554	21937424-0#71#76#diseaseC0024141	associated_with	R114H,lupus
22#27#geners7255655471#76#diseaseC0409974	21937424-0#22#27#geners72556554	21937424-0#71#76#diseaseC0409974	associated_with	R114H,lupus

DisGeNET5_gene_disease

Id	Subject	Object	Predicate	Lexical cue
21937424-0#4#9#gene11277	4-9	gene11277	denotes	TREX1
21937424-0#40#66#diseaseC0393591	40-66	diseaseC0393591	denotes	Aicardi-Goutières syndrome
21937424-0#40#66#diseaseC0796126	40-66	diseaseC0796126	denotes	Aicardi-Goutières syndrome
21937424-0#71#76#diseaseC0024131	71-76	diseaseC0024131	denotes	lupus
21937424-0#71#76#diseaseC0024138	71-76	diseaseC0024138	denotes	lupus
21937424-0#71#76#diseaseC0024141	71-76	diseaseC0024141	denotes	lupus
21937424-0#71#76#diseaseC0409974	71-76	diseaseC0409974	denotes	lupus
21937424-1#17#22#gene11277	163-168	gene11277	denotes	TREX1
21937424-1#89#107#diseaseC0004364	235-253	diseaseC0004364	denotes	autoimmune disease
4#9#gene1127740#66#diseaseC0393591	21937424-0#4#9#gene11277	21937424-0#40#66#diseaseC0393591	associated_with	TREX1,Aicardi-Goutières syndrome
4#9#gene1127740#66#diseaseC0796126	21937424-0#4#9#gene11277	21937424-0#40#66#diseaseC0796126	associated_with	TREX1,Aicardi-Goutières syndrome
4#9#gene1127771#76#diseaseC0024131	21937424-0#4#9#gene11277	21937424-0#71#76#diseaseC0024131	associated_with	TREX1,lupus
4#9#gene1127771#76#diseaseC0024138	21937424-0#4#9#gene11277	21937424-0#71#76#diseaseC0024138	associated_with	TREX1,lupus
4#9#gene1127771#76#diseaseC0024141	21937424-0#4#9#gene11277	21937424-0#71#76#diseaseC0024141	associated_with	TREX1,lupus
4#9#gene1127771#76#diseaseC0409974	21937424-0#4#9#gene11277	21937424-0#71#76#diseaseC0409974	associated_with	TREX1,lupus
17#22#gene1127789#107#diseaseC0004364	21937424-1#17#22#gene11277	21937424-1#89#107#diseaseC0004364	associated_with	TREX1,autoimmune disease

tmVarCorpus

Id	Subject	Object	Predicate	Lexical cue
T1	22-27	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T2	436-441	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T3	608-613	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T4	669-676	ProteinMutation:p\|INS\|201\|D	denotes	D201ins
T5	707-714	ProteinMutation:p\|INS\|124\|A	denotes	A124ins
T6	757-762	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T7	846-851	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T8	852-857	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T9	968-975	ProteinMutation:p\|INS\|201\|D	denotes	D201ins
T10	976-983	ProteinMutation:p\|INS\|201\|D	denotes	D201ins
T11	995-1002	ProteinMutation:p\|INS\|124\|A	denotes	A124ins
T12	1003-1010	ProteinMutation:p\|INS\|124\|A	denotes	A124ins
T13	1099-1104	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T14	1105-1112	ProteinMutation:p\|INS\|201\|D	denotes	D201ins
T15	1124-1129	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T16	1130-1137	ProteinMutation:p\|INS\|124\|A	denotes	A124ins
T17	1211-1216	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T18	1217-1222	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T19	1348-1353	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T20	1354-1361	ProteinMutation:p\|INS\|201\|D	denotes	D201ins
T21	1373-1378	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T22	1379-1386	ProteinMutation:p\|INS\|124\|A	denotes	A124ins
T23	1454-1461	ProteinMutation:p\|INS\|201\|D	denotes	D201ins
T24	1473-1480	ProteinMutation:p\|INS\|124\|A	denotes	A124ins
T25	1571-1576	ProteinMutation:p\|SUB\|R\|114\|H	denotes	R114H
T26	1693-1698	ProteinMutation:p\|SUB\|R\|114\|A	denotes	R114A
T27	1703-1708	ProteinMutation:p\|SUB\|R\|114\|K	denotes	R114K

HP-phenotype

Id	Subject	Object	Predicate	Lexical cue	hp_id
T1	235-253	Phenotype	denotes	autoimmune disease	HP:0002960
T2	254-282	Phenotype	denotes	systemic lupus erythematosus	HP:0002725
T3	548-576	Phenotype	denotes	systemic lupus erythematosus	HP:0002725

mondo_disease

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	40-66	Disease	denotes	Aicardi-Goutières syndrome	http://purl.obolibrary.org/obo/MONDO_0018866
T2	71-76	Disease	denotes	lupus	http://purl.obolibrary.org/obo/MONDO_0004670
T3	180-206	Disease	denotes	Aicardi-Goutières syndrome	http://purl.obolibrary.org/obo/MONDO_0018866
T4	208-211	Disease	denotes	AGS	http://purl.obolibrary.org/obo/MONDO_0018866
T5	235-253	Disease	denotes	autoimmune disease	http://purl.obolibrary.org/obo/MONDO_0007179
T6	254-282	Disease	denotes	systemic lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0007915
T7	450-453	Disease	denotes	AGS	http://purl.obolibrary.org/obo/MONDO_0018866
T8	548-576	Disease	denotes	systemic lupus erythematosus	http://purl.obolibrary.org/obo/MONDO_0007915
T9	748-751	Disease	denotes	AGS	http://purl.obolibrary.org/obo/MONDO_0018866