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PubMed:15471865 JSONTXT 28 Projects

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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.
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).
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.
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.
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.
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.
T6 740-746 Sentence denotes Genet.
TextSentencer_T7 747-760 Sentence denotes 23, 264-266).
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.
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.
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.
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.
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.
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.
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.
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).
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).