> top > docs > PubMed:21850008 > annotations

PubMed:21850008 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-199 Sentence denotes Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
TextSentencer_T2 200-527 Sentence denotes The mutation pattern of mitochondrial DNA (mtDNA) in mainland Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) has been rarely reported, though previous data suggested that the mutation pattern of MELAS could be different among geographically localized populations.
TextSentencer_T3 528-716 Sentence denotes We presented the results of comprehensive mtDNA mutation analysis in 92 unrelated Chinese patients with MELAS (85 with classic MELAS and 7 with MELAS/Leigh syndrome (LS) overlap syndrome).
TextSentencer_T4 717-819 Sentence denotes The mtDNA A3243G mutation was the most common causal genotype in this patient group (79/92 and 85.9%).
TextSentencer_T5 820-880 Sentence denotes The second common gene mutation was G13513A (7/92 and 7.6%).
TextSentencer_T6 881-945 Sentence denotes Additionally, we identified T10191C (p.S45P) in ND3, A11470C (p.
TextSentencer_T7 946-1111 Sentence denotes K237N) in ND4, T13046C (p.M237T) in ND5 and a large-scale deletion (13025-13033:14417-14425) involving partial ND5 and ND6 subunits of complex I in one patient each.
TextSentencer_T8 1112-1186 Sentence denotes Among them, A11470C, T13046C and the single deletion were novel mutations.
TextSentencer_T9 1187-1310 Sentence denotes In summary, patients with mutations affecting mitochondrially encoded complex I (MTND) reached 12.0% (11/92) in this group.
TextSentencer_T10 1311-1419 Sentence denotes It is noteworthy that all seven patients with MELAS/LS overlap syndrome were associated with MTND mutations.
TextSentencer_T11 1420-1544 Sentence denotes Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome.
T1 0-199 Sentence denotes Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
T2 200-527 Sentence denotes The mutation pattern of mitochondrial DNA (mtDNA) in mainland Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) has been rarely reported, though previous data suggested that the mutation pattern of MELAS could be different among geographically localized populations.
T3 528-716 Sentence denotes We presented the results of comprehensive mtDNA mutation analysis in 92 unrelated Chinese patients with MELAS (85 with classic MELAS and 7 with MELAS/Leigh syndrome (LS) overlap syndrome).
T4 717-819 Sentence denotes The mtDNA A3243G mutation was the most common causal genotype in this patient group (79/92 and 85.9%).
T5 820-880 Sentence denotes The second common gene mutation was G13513A (7/92 and 7.6%).
T6 881-945 Sentence denotes Additionally, we identified T10191C (p.S45P) in ND3, A11470C (p.
T7 946-1111 Sentence denotes K237N) in ND4, T13046C (p.M237T) in ND5 and a large-scale deletion (13025-13033:14417-14425) involving partial ND5 and ND6 subunits of complex I in one patient each.
T8 1112-1186 Sentence denotes Among them, A11470C, T13046C and the single deletion were novel mutations.
T9 1187-1310 Sentence denotes In summary, patients with mutations affecting mitochondrially encoded complex I (MTND) reached 12.0% (11/92) in this group.
T10 1311-1419 Sentence denotes It is noteworthy that all seven patients with MELAS/LS overlap syndrome were associated with MTND mutations.
T11 1420-1544 Sentence denotes Our data emphasize the important role of MTND mutations in the pathogenicity of MELAS, especially MELAS/LS overlap syndrome.

Allie

Id Subject Object Predicate Lexical cue
SS1_21850008_1_0 224-241 expanded denotes mitochondrial DNA
SS2_21850008_1_0 243-248 abbr denotes mtDNA
SS1_21850008_1_1 298-364 expanded denotes myopathy, encephalopathy, lactic acidosis and stroke-like episodes
SS2_21850008_1_1 366-371 abbr denotes MELAS
SS1_21850008_2_0 678-692 expanded denotes Leigh syndrome
SS2_21850008_2_0 694-696 abbr denotes LS
SS1_21850008_7_0 1233-1266 expanded denotes mitochondrially encoded complex I
SS2_21850008_7_0 1268-1272 abbr denotes MTND
AE1_21850008_1_0 SS1_21850008_1_0 SS2_21850008_1_0 abbreviatedTo mitochondrial DNA,mtDNA
AE1_21850008_1_1 SS1_21850008_1_1 SS2_21850008_1_1 abbreviatedTo "myopathy, encephalopathy, lactic acidosis and stroke-like episodes",MELAS
AE1_21850008_2_0 SS1_21850008_2_0 SS2_21850008_2_0 abbreviatedTo Leigh syndrome,LS
AE1_21850008_7_0 SS1_21850008_7_0 SS2_21850008_7_0 abbreviatedTo mitochondrially encoded complex I,MTND

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 224-237 HP_0001427 denotes mitochondrial
T2 284-297 HP_0001427 denotes mitochondrial
T3 284-306 HP_0003737 denotes mitochondrial myopathy
T4 298-306 HP_0003198 denotes myopathy
T5 308-322 HP_0001298 denotes encephalopathy
T6 324-339 HP_0003128 denotes lactic acidosis
T7 331-339 HP_0001941 denotes acidosis
T8 344-364 HP_0002401 denotes stroke-like episodes
T9 344-350 HP_0001297 denotes stroke
T10 1233-1248 HP_0001427 denotes mitochondrially

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 284-306 HP:0003737 denotes mitochondrial myopathy
AB2 308-322 HP:0001298 denotes encephalopathy
TI1 118-140 HP:0003737 denotes mitochondrial myopathy
TI2 142-156 HP:0001298 denotes encephalopathy
AB3 344-364 HP:0002401 denotes stroke-like episodes
TI3 158-173 HP:0003128 denotes lactic acidosis
TI4 178-198 HP:0002401 denotes stroke-like episodes

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 998-1003 http://purl.obolibrary.org/obo/UBERON_0002542 denotes scale

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 284-364 ORDO:550 denotes mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
TI1 118-198 ORDO:550 denotes mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
AB2 459-464 ORDO:550 denotes MELAS
AB3 632-637 ORDO:550 denotes MELAS
AB4 655-660 ORDO:550 denotes MELAS
AB5 672-677 ORDO:550 denotes MELAS
AB6 1357-1362 ORDO:550 denotes MELAS
AB7 1500-1505 ORDO:550 denotes MELAS
AB8 1518-1523 ORDO:550 denotes MELAS

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 998-1003 http://purl.obolibrary.org/obo/UBERON_0002542 denotes scale

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 727-733 DNAMutation:m|SUB|A|3243|G denotes A3243G
T2 856-863 DNAMutation:m|SUB|G|13513|A denotes G13513A
T3 909-916 DNAMutation:m|SUB|T|10191|C denotes T10191C
T4 918-924 ProteinMutation:p|SUB|S|45|P denotes p.S45P
T5 934-941 DNAMutation:m|SUB|A|11470|C denotes A11470C
T6 943-951 ProteinMutation:p|SUB|K|237|N denotes p. K237N
T7 961-968 DNAMutation:m|SUB|T|13046|C denotes T13046C
T8 970-977 ProteinMutation:p|SUB|M|237|T denotes p.M237T
T9 1124-1131 DNAMutation:m|SUB|A|11470|C denotes A11470C
T10 1133-1140 DNAMutation:m|SUB|T|13046|C denotes T13046C