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PubMed:15471865 JSONTXT

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Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 88-96 http://purl.obolibrary.org/obo/MAT_0000491 denotes proximal
T2 184-195 http://purl.obolibrary.org/obo/MAT_0000373 denotes vertebrates
T3 201-207 http://purl.obolibrary.org/obo/MAT_0000119 denotes kidney
T4 278-286 http://purl.obolibrary.org/obo/MAT_0000491 denotes proximal
T5 489-497 http://purl.obolibrary.org/obo/MAT_0000491 denotes proximal
T6 903-906 http://purl.obolibrary.org/obo/MAT_0000140 denotes eye
T7 1936-1942 http://purl.obolibrary.org/obo/MAT_0000119 denotes kidney
T8 1944-1952 http://purl.obolibrary.org/obo/MAT_0000491 denotes proximal

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15471865-0#67#72#gene8671 67-72 gene8671 denotes NBCe1
15471865-0#73#79#gene8671 73-79 gene8671 denotes SLC4A4
15471865-0#88#113#diseaseC0268435 88-113 diseaseC0268435 denotes proximal tubular acidosis
15471865-0#118#126#diseaseC0017601 118-126 diseaseC0017601 denotes glaucoma
15471865-0#88#113#diseaseC0268435 88-113 diseaseC0268435 denotes proximal tubular acidosis
15471865-0#118#126#diseaseC0017601 118-126 diseaseC0017601 denotes glaucoma
15471865-3#30#35#gene8671 477-482 gene8671 denotes NBCe1
15471865-3#96#105#diseaseC0086543 543-552 diseaseC0086543 denotes cataracts
15471865-3#96#105#diseaseC0521707 543-552 diseaseC0521707 denotes cataracts
15471865-4#100#105#gene8671 861-866 gene8671 denotes NBCe1
15471865-4#162#180#diseaseC0025362 923-941 diseaseC0025362 denotes mental retardation
15471865-4#162#180#diseaseC3714756 923-941 diseaseC3714756 denotes mental retardation
15471865-5#79#84#gene8671 1022-1027 gene8671 denotes NBCe1
15471865-5#95#100#gene8671 1038-1043 gene8671 denotes NBCe1
15471865-5#37#49#diseaseC1857276 980-992 diseaseC1857276 denotes the syndrome
67#72#gene867188#113#diseaseC0268435 15471865-0#67#72#gene8671 15471865-0#88#113#diseaseC0268435 associated_with NBCe1,proximal tubular acidosis
67#72#gene8671118#126#diseaseC0017601 15471865-0#67#72#gene8671 15471865-0#118#126#diseaseC0017601 associated_with NBCe1,glaucoma
67#72#gene867188#113#diseaseC0268435 15471865-0#67#72#gene8671 15471865-0#88#113#diseaseC0268435 associated_with NBCe1,proximal tubular acidosis
67#72#gene8671118#126#diseaseC0017601 15471865-0#67#72#gene8671 15471865-0#118#126#diseaseC0017601 associated_with NBCe1,glaucoma
73#79#gene867188#113#diseaseC0268435 15471865-0#73#79#gene8671 15471865-0#88#113#diseaseC0268435 associated_with SLC4A4,proximal tubular acidosis
73#79#gene8671118#126#diseaseC0017601 15471865-0#73#79#gene8671 15471865-0#118#126#diseaseC0017601 associated_with SLC4A4,glaucoma
73#79#gene867188#113#diseaseC0268435 15471865-0#73#79#gene8671 15471865-0#88#113#diseaseC0268435 associated_with SLC4A4,proximal tubular acidosis
73#79#gene8671118#126#diseaseC0017601 15471865-0#73#79#gene8671 15471865-0#118#126#diseaseC0017601 associated_with SLC4A4,glaucoma
30#35#gene867196#105#diseaseC0086543 15471865-3#30#35#gene8671 15471865-3#96#105#diseaseC0086543 associated_with NBCe1,cataracts
30#35#gene867196#105#diseaseC0521707 15471865-3#30#35#gene8671 15471865-3#96#105#diseaseC0521707 associated_with NBCe1,cataracts
100#105#gene8671162#180#diseaseC0025362 15471865-4#100#105#gene8671 15471865-4#162#180#diseaseC0025362 associated_with NBCe1,mental retardation
100#105#gene8671162#180#diseaseC3714756 15471865-4#100#105#gene8671 15471865-4#162#180#diseaseC3714756 associated_with NBCe1,mental retardation
79#84#gene867137#49#diseaseC1857276 15471865-5#79#84#gene8671 15471865-5#37#49#diseaseC1857276 associated_with NBCe1,the syndrome
95#100#gene867137#49#diseaseC1857276 15471865-5#95#100#gene8671 15471865-5#37#49#diseaseC1857276 associated_with NBCe1,the syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 105-113 HP:0001941 denotes acidosis
TI2 118-126 HP:0000501 denotes glaucoma
AB1 489-520 HP:0002049 denotes proximal renal tubular acidosis
AB2 529-537 HP:0000501 denotes glaucoma
AB3 543-552 HP:0000518 denotes cataracts
AB4 2010-2018 HP:0000501 denotes glaucoma

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 489-520 ORDO:47159 denotes proximal renal tubular acidosis
AB2 522-526 ORDO:47159 denotes pRTA
AB3 886-890 ORDO:47159 denotes pRTA

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-157 Sentence denotes A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
TextSentencer_T2 158-353 Sentence denotes In humans and terrestrial vertebrates, the kidney controls systemic pH in part by absorbing filtered bicarbonate in the proximal tubule via an electrogenic Na+/HCO3- cotransporter (NBCe1/SLC4A4).
TextSentencer_T3 354-446 Sentence denotes Recently, human genetics revealed that NBCe1 is the major renal contributor to this process.
TextSentencer_T4 447-600 Sentence denotes Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S.
TextSentencer_T5 601-739 Sentence denotes H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.
TextSentencer_T6 740-746 Sentence denotes Genet.
TextSentencer_T7 747-760 Sentence denotes 23, 264-266).
TextSentencer_T8 761-942 Sentence denotes We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation.
TextSentencer_T9 943-1063 Sentence denotes To understand the pathophysiology of the syndrome, we expressed wild-type (WT) NBCe1 and S427L-NBCe1 in Xenopus oocytes.
TextSentencer_T10 1064-1179 Sentence denotes Function was evaluated by measuring intracellular pH (HCO3- transport) and membrane currents using microelectrodes.
TextSentencer_T11 1180-1313 Sentence denotes HCO3- -elicited currents for S427L were approximately 10% of WT NBCe1, and CO2-induced acidification was approximately 4-fold faster.
TextSentencer_T12 1314-1407 Sentence denotes Na+ -dependent HCO3- transport (currents and acidification) was also approximately 10% of WT.
TextSentencer_T13 1408-1662 Sentence denotes Current-voltage (I-V) analysis reveals that S427L has no reversal potential in HCO3-, indicating that under physiological ion gradient conditions, NaHCO3 could not move out of cells as is needed for renal HCO3- absorption and ocular pressure homeostasis.
TextSentencer_T14 1663-1768 Sentence denotes I-V analysis without Na+ further shows that the S427L-mediated NaHCO3 efflux mode is depressed or absent.
TextSentencer_T15 1769-2020 Sentence denotes These experiments reveal that voltage- and Na+ -dependent transport by S427L-hkNBCe1 is unfavorably altered, thereby causing both insufficient HCO3- absorption by the kidney (proximal RTA) and inappropriate anterior chamber fluid transport (glaucoma).
T1 0-157 Sentence denotes A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.
T2 158-353 Sentence denotes In humans and terrestrial vertebrates, the kidney controls systemic pH in part by absorbing filtered bicarbonate in the proximal tubule via an electrogenic Na+/HCO3- cotransporter (NBCe1/SLC4A4).
T3 354-446 Sentence denotes Recently, human genetics revealed that NBCe1 is the major renal contributor to this process.
T4 447-600 Sentence denotes Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S.
T5 601-739 Sentence denotes H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.
T6 740-746 Sentence denotes Genet.
T7 747-760 Sentence denotes 23, 264-266).
T8 761-942 Sentence denotes We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation.
T9 943-1063 Sentence denotes To understand the pathophysiology of the syndrome, we expressed wild-type (WT) NBCe1 and S427L-NBCe1 in Xenopus oocytes.
T10 1064-1179 Sentence denotes Function was evaluated by measuring intracellular pH (HCO3- transport) and membrane currents using microelectrodes.
T11 1180-1313 Sentence denotes HCO3- -elicited currents for S427L were approximately 10% of WT NBCe1, and CO2-induced acidification was approximately 4-fold faster.
T12 1314-1407 Sentence denotes Na+ -dependent HCO3- transport (currents and acidification) was also approximately 10% of WT.
T13 1408-1662 Sentence denotes Current-voltage (I-V) analysis reveals that S427L has no reversal potential in HCO3-, indicating that under physiological ion gradient conditions, NaHCO3 could not move out of cells as is needed for renal HCO3- absorption and ocular pressure homeostasis.
T14 1663-1768 Sentence denotes I-V analysis without Na+ further shows that the S427L-mediated NaHCO3 efflux mode is depressed or absent.
T15 1769-2020 Sentence denotes These experiments reveal that voltage- and Na+ -dependent transport by S427L-hkNBCe1 is unfavorably altered, thereby causing both insufficient HCO3- absorption by the kidney (proximal RTA) and inappropriate anterior chamber fluid transport (glaucoma).

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 201-207 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T2 1936-1942 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T3 903-906 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye
PD-UBERON-AE-B_T4 184-195 http://purl.obolibrary.org/obo/UBERON_3010224 denotes vertebrates
PD-UBERON-AE-B_T5 278-293 http://purl.obolibrary.org/obo/UBERON_0004134 denotes proximal tubule

DisGeNET

Id Subject Object Predicate Lexical cue
T0 73-79 gene:8671 denotes SLC4A4
T1 118-126 disease:C0017601 denotes glaucoma
T2 67-72 gene:8671 denotes NBCe1
T3 118-126 disease:C0017601 denotes glaucoma
T4 477-482 gene:8671 denotes NBCe1
T5 543-552 disease:C0521707 denotes cataracts
T6 477-482 gene:8671 denotes NBCe1
T7 543-552 disease:C0086543 denotes cataracts
T8 477-482 gene:8671 denotes NBCe1
T9 522-526 disease:C0268435 denotes pRTA
T10 477-482 gene:8671 denotes NBCe1
T11 489-520 disease:C0268435 denotes proximal renal tubular acidosis
T12 861-866 gene:8671 denotes NBCe1
T13 923-941 disease:C0025362 denotes mental retardation
R1 T0 T1 associated_with SLC4A4,glaucoma
R2 T2 T3 associated_with NBCe1,glaucoma
R3 T4 T5 associated_with NBCe1,cataracts
R4 T6 T7 associated_with NBCe1,cataracts
R5 T8 T9 associated_with NBCe1,pRTA
R6 T10 T11 associated_with NBCe1,proximal renal tubular acidosis
R7 T12 T13 associated_with NBCe1,mental retardation

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 88-96 Body_part denotes proximal http://purl.obolibrary.org/obo/MAT_0000491
T2 184-195 Body_part denotes vertebrates http://purl.obolibrary.org/obo/MAT_0000373
T3 201-207 Body_part denotes kidney http://purl.obolibrary.org/obo/MAT_0000119
T4 278-286 Body_part denotes proximal http://purl.obolibrary.org/obo/MAT_0000491
T5 489-497 Body_part denotes proximal http://purl.obolibrary.org/obo/MAT_0000491
T6 903-906 Body_part denotes eye http://purl.obolibrary.org/obo/MAT_0000140
T7 1936-1942 Body_part denotes kidney http://purl.obolibrary.org/obo/MAT_0000119
T8 1944-1952 Body_part denotes proximal http://purl.obolibrary.org/obo/MAT_0000491

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 105-113 Disease denotes acidosis http://purl.obolibrary.org/obo/MONDO_0006022
T2 118-126 Disease denotes glaucoma http://purl.obolibrary.org/obo/MONDO_0005041
T3 489-520 Disease denotes proximal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008369
T4 522-526 Disease denotes pRTA http://purl.obolibrary.org/obo/MONDO_0008369
T5 529-537 Disease denotes glaucoma http://purl.obolibrary.org/obo/MONDO_0005041
T6 543-552 Disease denotes cataracts http://purl.obolibrary.org/obo/MONDO_0005129
T7 886-890 Disease denotes pRTA http://purl.obolibrary.org/obo/MONDO_0008369
T8 923-941 Disease denotes mental retardation http://purl.obolibrary.org/obo/MONDO_0001071
T9 2010-2018 Disease denotes glaucoma http://purl.obolibrary.org/obo/MONDO_0005041

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 118-126 OrganismTaxon denotes glaucoma 5882
T2 364-369 OrganismTaxon denotes human 9606
T3 529-537 OrganismTaxon denotes glaucoma 5882
T4 1047-1054 OrganismTaxon denotes Xenopus 262014|8353
T6 2010-2018 OrganismTaxon denotes glaucoma 5882

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 201-207 Body_part denotes kidney http://purl.obolibrary.org/obo/UBERON_0002113
T2 278-293 Body_part denotes proximal tubule http://purl.obolibrary.org/obo/UBERON_0004134
T3 903-906 Body_part denotes eye http://purl.obolibrary.org/obo/UBERON_0000019|http://purl.obolibrary.org/obo/UBERON_0000970|http://purl.obolibrary.org/obo/UBERON_0010230
T6 1100-1113 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622
T7 1139-1147 Body_part denotes membrane http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158
T10 1936-1942 Body_part denotes kidney http://purl.obolibrary.org/obo/UBERON_0002113
T11 1976-1992 Body_part denotes anterior chamber http://purl.obolibrary.org/obo/UBERON_0001766
T12 1993-1998 Body_part denotes fluid http://purl.obolibrary.org/obo/UBERON_0006314

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 88-113 Phenotype denotes proximal tubular acidosis HP:0002049
T2 118-126 Phenotype denotes glaucoma HP:0000501
T3 489-520 Phenotype denotes proximal renal tubular acidosis HP:0002049
T4 522-526 Phenotype denotes pRTA HP:0002049
T5 529-537 Phenotype denotes glaucoma HP:0000501
T6 543-552 Phenotype denotes cataracts HP:0000518
T7 886-890 Phenotype denotes pRTA HP:0002049
T8 923-941 Phenotype denotes mental retardation HP:0001249
T9 2010-2018 Phenotype denotes glaucoma HP:0000501

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 1055-1062 Cell denotes oocytes http://purl.obolibrary.org/obo/CL:0000023