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PubMed:18408010 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 86-89 DiseaseOrPhenotypicFeature denotes ion 0044688
T2 514-541 DiseaseOrPhenotypicFeature denotes long QT syndrome and type 1 0100316
T3 542-558 DiseaseOrPhenotypicFeature denotes Brugada syndrome 0015263
T4 583-593 DiseaseOrPhenotypicFeature denotes arrhythmia 0007263
T5 594-603 DiseaseOrPhenotypicFeature denotes syndromes 0002254
T6 879-908 DiseaseOrPhenotypicFeature denotes intestinal pseudo-obstruction 0002803
T7 1006-1009 DiseaseOrPhenotypicFeature denotes ion 0044688
T8 1637-1640 DiseaseOrPhenotypicFeature denotes can 0012833
T9 1688-1717 DiseaseOrPhenotypicFeature denotes intestinal pseudo-obstruction 0002803

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-48 Sentence denotes A mutation in telethonin alters Nav1.5 function.
TextSentencer_T2 49-162 Sentence denotes Excitable cells express a variety of ion channels that allow rapid exchange of ions with the extracellular space.
TextSentencer_T3 163-263 Sentence denotes Opening of Na(+) channels in excitable cells results in influx of Na(+) and cellular depolarization.
TextSentencer_T4 264-401 Sentence denotes The function of Na(v)1.5, an Na(+) channel expressed in the heart, brain, and gastrointestinal tract, is altered by interacting proteins.
TextSentencer_T5 402-469 Sentence denotes The pore-forming alpha-subunit of this channel is encoded by SCN5A.
TextSentencer_T6 470-604 Sentence denotes Genetic perturbations in SCN5A cause type 3 long QT syndrome and type 1 Brugada syndrome, two distinct heritable arrhythmia syndromes.
TextSentencer_T7 605-840 Sentence denotes Mutations in SCN5A are also associated with increased prevalence of gastrointestinal symptoms, suggesting that the Na(+) channel plays a role in normal gastrointestinal physiology and that alterations in its function may cause disease.
TextSentencer_T8 841-1039 Sentence denotes We collected blood from patients with intestinal pseudo-obstruction (a disease associated with abnormal motility in the gut) and screened for mutations in SCN5A and ion channel-interacting proteins.
TextSentencer_T9 1040-1156 Sentence denotes A 42-year-old male patient was found to have a mutation in the gene TCAP, encoding for the small protein telethonin.
TextSentencer_T10 1157-1314 Sentence denotes Telethonin was found to be expressed in the human gastrointestinal smooth muscle, co-localized with Na(v)1.5, and co-immunoprecipitated with sodium channels.
TextSentencer_T11 1315-1493 Sentence denotes Expression of mutated telethonin, when co-expressed with SCN5A in HEK 293 cells, altered steady state activation kinetics of SCN5A, resulting in a doubling of the window current.
TextSentencer_T12 1494-1606 Sentence denotes These results suggest a new role for telethonin, namely that telethonin is a sodium channel-interacting protein.
TextSentencer_T13 1607-1718 Sentence denotes Also, mutations in telethonin can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction.
T1 0-48 Sentence denotes A mutation in telethonin alters Nav1.5 function.
T2 49-162 Sentence denotes Excitable cells express a variety of ion channels that allow rapid exchange of ions with the extracellular space.
T3 163-263 Sentence denotes Opening of Na(+) channels in excitable cells results in influx of Na(+) and cellular depolarization.
T4 264-401 Sentence denotes The function of Na(v)1.5, an Na(+) channel expressed in the heart, brain, and gastrointestinal tract, is altered by interacting proteins.
T5 402-469 Sentence denotes The pore-forming alpha-subunit of this channel is encoded by SCN5A.
T6 470-604 Sentence denotes Genetic perturbations in SCN5A cause type 3 long QT syndrome and type 1 Brugada syndrome, two distinct heritable arrhythmia syndromes.
T7 605-840 Sentence denotes Mutations in SCN5A are also associated with increased prevalence of gastrointestinal symptoms, suggesting that the Na(+) channel plays a role in normal gastrointestinal physiology and that alterations in its function may cause disease.
T8 841-1039 Sentence denotes We collected blood from patients with intestinal pseudo-obstruction (a disease associated with abnormal motility in the gut) and screened for mutations in SCN5A and ion channel-interacting proteins.
T9 1040-1156 Sentence denotes A 42-year-old male patient was found to have a mutation in the gene TCAP, encoding for the small protein telethonin.
T10 1157-1314 Sentence denotes Telethonin was found to be expressed in the human gastrointestinal smooth muscle, co-localized with Na(v)1.5, and co-immunoprecipitated with sodium channels.
T11 1315-1493 Sentence denotes Expression of mutated telethonin, when co-expressed with SCN5A in HEK 293 cells, altered steady state activation kinetics of SCN5A, resulting in a doubling of the window current.
T12 1494-1606 Sentence denotes These results suggest a new role for telethonin, namely that telethonin is a sodium channel-interacting protein.
T13 1607-1718 Sentence denotes Also, mutations in telethonin can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 324-329 http://purl.obolibrary.org/obo/MAT_0000036 denotes heart
T2 331-336 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T3 854-859 http://purl.obolibrary.org/obo/MAT_0000083 denotes blood
T4 854-859 http://purl.obolibrary.org/obo/MAT_0000315 denotes blood
T5 879-889 http://purl.obolibrary.org/obo/MAT_0000043 denotes intestinal
T6 961-964 http://purl.obolibrary.org/obo/MAT_0000043 denotes gut
T7 1054-1058 http://purl.obolibrary.org/obo/MAT_0000029 denotes male
T8 1224-1237 http://purl.obolibrary.org/obo/MAT_0000303 denotes smooth muscle
T9 1231-1237 http://purl.obolibrary.org/obo/MAT_0000025 denotes muscle
T10 1688-1698 http://purl.obolibrary.org/obo/MAT_0000043 denotes intestinal

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 583-593 HP:0011675 denotes arrhythmia
AB2 879-908 HP:0004389 denotes intestinal pseudo-obstruction
AB3 1688-1717 HP:0004389 denotes intestinal pseudo-obstruction

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 542-558 ORDO:130 denotes Brugada syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 324-329 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart
PD-UBERON-AE-B_T2 331-336 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T3 406-410 http://purl.obolibrary.org/obo/UBERON_0008915 denotes pore
PD-UBERON-AE-B_T4 854-859 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T5 879-889 http://purl.obolibrary.org/obo/UBERON_0000160 denotes intestinal
PD-UBERON-AE-B_T6 1688-1698 http://purl.obolibrary.org/obo/UBERON_0000160 denotes intestinal

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 854-859 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 331-336 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T3 879-889 http://purl.obolibrary.org/obo/UBERON_0000160 denotes intestinal
PD-UBERON-AE-B_T4 1688-1698 http://purl.obolibrary.org/obo/UBERON_0000160 denotes intestinal
PD-UBERON-AE-B_T5 324-329 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart
PD-UBERON-AE-B_T6 406-410 http://purl.obolibrary.org/obo/UBERON_0008915 denotes pore

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 514-541 Disease denotes long QT syndrome and type 1 http://purl.obolibrary.org/obo/MONDO_0008646
T2 542-558 Disease denotes Brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263
T3 583-593 Disease denotes arrhythmia http://purl.obolibrary.org/obo/MONDO_0007263
T4 879-908 Disease denotes intestinal pseudo-obstruction http://purl.obolibrary.org/obo/MONDO_0002803
T5 1688-1717 Disease denotes intestinal pseudo-obstruction http://purl.obolibrary.org/obo/MONDO_0002803

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 514-530 Phenotype denotes long QT syndrome HP:0001657
T2 583-593 Phenotype denotes arrhythmia HP:0011675
T3 879-908 Phenotype denotes intestinal pseudo-obstruction HP:0004389
T4 1688-1717 Phenotype denotes intestinal pseudo-obstruction HP:0004389

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 1059-1066 OrganismTaxon denotes patient 9606
T2 1201-1206 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 142-161 Body_part denotes extracellular space http://purl.obolibrary.org/obo/GO_0005615
T2 163-170 Body_part denotes Opening http://purl.obolibrary.org/obo/UBERON_0004111
T3 324-329 Body_part denotes heart http://purl.obolibrary.org/obo/UBERON_0000948|http://purl.obolibrary.org/obo/UBERON_0007100|http://purl.obolibrary.org/obo/UBERON_0015228|http://purl.obolibrary.org/obo/UBERON_0015230
T7 331-336 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T9 342-364 Body_part denotes gastrointestinal tract http://purl.obolibrary.org/obo/UBERON_0005409
T10 406-410 Body_part denotes pore http://purl.obolibrary.org/obo/UBERON_0008915
T11 854-859 Body_part denotes blood http://purl.obolibrary.org/obo/UBERON_0000178
T12 961-964 Body_part denotes gut http://purl.obolibrary.org/obo/UBERON_0001007|http://purl.obolibrary.org/obo/UBERON_0001555|http://purl.obolibrary.org/obo/UBERON_0004907
T15 1224-1237 Body_part denotes smooth muscle http://purl.obolibrary.org/obo/UBERON_0001135

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 324-329 Body_part denotes heart http://purl.obolibrary.org/obo/MAT_0000036
T2 331-336 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098
T3 854-859 Body_part denotes blood http://purl.obolibrary.org/obo/MAT_0000083|http://purl.obolibrary.org/obo/MAT_0000315
T5 879-889 Body_part denotes intestinal http://purl.obolibrary.org/obo/MAT_0000043
T6 961-964 Body_part denotes gut http://purl.obolibrary.org/obo/MAT_0000043
T7 1054-1058 Body_part denotes male http://purl.obolibrary.org/obo/MAT_0000029
T8 1224-1237 Body_part denotes smooth muscle http://purl.obolibrary.org/obo/MAT_0000303
T9 1688-1698 Body_part denotes intestinal http://purl.obolibrary.org/obo/MAT_0000043