2001 Fiscal Year Final Research Report Summary
Phypiology and pathophysiology of Na-HCO3 cotransporter
| Project/Area Number |
12671024
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | The University of Tokyo |
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Principal Investigator |
SEKI George Faculty of Medicin, The University of Tokyo, Assistant, 医学部・附属病院, 助手 (30206619)
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| Co-Investigator(Kenkyū-buntansha) |
NOIRI Eisei Faculty of Medicin, The University of Tokyo, Assistant, 医学部・附属病院, 助手 (00301820)
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| Project Period (FY) |
2000 – 2001
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| Keywords | NBC-1 / RTA / Cataracts / glaucoma / band keratepathy |
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| Research Abstract |
Mutations in Na-HCO3 cotransporter (NBC-1) cause proximal renal tubular acidosis with ocular abnormalities. We have examined the localization of NBC-1 in the eye, and found that NBC-1 is present in the corneal endothelium, ciliary epithelium, trabecular meshwork, and lens epithelium. We also found NBC-1 activity in human lens epithelial cells. These findings could explain the occurrence of ocular abnormalities associated with NBC-1 inactivation.
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[Publications] Hara C, Satoh H, Usui T, Kunimi M, Noiri E, Tsukamoto K, Taniguchi S, Uwatoko S, Goto A, Racusen LC, Inatomi J, Endou H, Fujita T, SeKi G.: "Intracellular pH regulatory mechanism in a human renal proximal cell line (HKC-8) : evidence for Na+/H+ exchanger, CI-/HC03- exchanger and Na+-HC03- cotransporter"Pflugers Arch. Vol. 440. 713-720 (2000)
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[Publications] lgarashi T, Inatomi J, Sekine T, Seki G, Shimadzu M, Tozawa F, Takeshima Y, Takumi T, Takahashi T, Yoshikawa N, Nakamura H, Endou H.: "Novel nonsense mutation in the Na+/HC03- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma"J Am Soc Nephrol. 12. 713-718 (2001)
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[Publications] Usui T, Hara M, Satoh H, Moriyama N, Kagaya H, Amano S, Oshika T, Ishii Y, Ibaraki N, Kara C, Kunimi M, Noiri E, Tsukamoto K, Inatomi J, Kawakami H, Endou H, Igarashi T, Goto A, Fujita T, Araie M, Seki G.: "Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis"J Clin Invest.. Vol. 108. 107-115 (2001)
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