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Volumn 28, Issue 10, 2005, Pages 805-809

Functional confirmation of Gitelman's syndrome mutations in Japanese

Author keywords

Blood pressure; Gitelman's syndrome; SLC12A3

Indexed keywords

COMPLEMENTARY DNA; SODIUM 22; SODIUM CHLORIDE COTRANSPORTER; COTRANSPORTER; DRUG RECEPTOR; SLC12A3 PROTEIN, HUMAN; SODIUM;

EID: 33644867836     PISSN: 09169636     EISSN: 13484214     Source Type: Journal    
DOI: 10.1291/hypres.28.805     Document Type: Article
Times cited : (14)

References (14)
  • 1
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
    • Simon DB, Nelson-Williams C, Bia MJ, et al: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996; 12: 24-30.
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3
  • 2
    • 0035571328 scopus 로고    scopus 로고
    • Mutations in the Na-Cl cotransporter reduce blood pressure in human
    • Cruz DN, Simon DB, Nelson-Williams C, et al: Mutations in the Na-Cl cotransporter reduce blood pressure in human. Hypertension 2001; 37: 1458-1464.
    • (2001) Hypertension , vol.37 , pp. 1458-1464
    • Cruz, D.N.1    Simon, D.B.2    Nelson-Williams, C.3
  • 3
    • 3042684727 scopus 로고    scopus 로고
    • A high prevalence of Gitelman's syndrome mutations in Japanese
    • Tago N, Kokubo Y, Inamoto N, et al: A high prevalence of Gitelman's syndrome mutations in Japanese. Hypertens Res 2004; 27: 327-331.
    • (2004) Hypertens Res , vol.27 , pp. 327-331
    • Tago, N.1    Kokubo, Y.2    Inamoto, N.3
  • 4
    • 2442598041 scopus 로고    scopus 로고
    • Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line
    • De Jong JC, Willems PH, Goossens M, et al: Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line. Nephrol Dial Transplant 2004; 19: 1069-1076.
    • (2004) Nephrol Dial Transplant , vol.19 , pp. 1069-1076
    • De Jong, J.C.1    Willems, P.H.2    Goossens, M.3
  • 5
    • 0033672987 scopus 로고    scopus 로고
    • Potential of carotid enlargement as a useful indicator affected by high blood pressure in a large general population of a Japanese city: The Suita study
    • Mannami T, Baba S, Ogata J: Potential of carotid enlargement as a useful indicator affected by high blood pressure in a large general population of a Japanese city: the Suita study. Stroke 2000; 31: 2958-2965.
    • (2000) Stroke , vol.31 , pp. 2958-2965
    • Mannami, T.1    Baba, S.2    Ogata, J.3
  • 6
    • 12444346898 scopus 로고    scopus 로고
    • Epidemiological evidence of an association between SLC6A2 gene polymorphism and hypertension
    • Ono K, Iwanaga Y, Mannami T, et al: Epidemiological evidence of an association between SLC6A2 gene polymorphism and hypertension. Hypertens Res 2003; 26: 685-689.
    • (2003) Hypertens Res , vol.26 , pp. 685-689
    • Ono, K.1    Iwanaga, Y.2    Mannami, T.3
  • 7
    • 0036143895 scopus 로고    scopus 로고
    • Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension
    • Iwai N, Katsuya T, Mannami T, et al: Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension. Circulation 2002; 105: 41-47.
    • (2002) Circulation , vol.105 , pp. 41-47
    • Iwai, N.1    Katsuya, T.2    Mannami, T.3
  • 8
    • 1142275234 scopus 로고    scopus 로고
    • Association between hypertension and the α-adducin, β1-adrenoreceptor and G-protein β3 subunit genes in the Japanese population; the Suita Study
    • Shioji K, Kokubo Y, Mannami T, et al: Association between hypertension and the α-adducin, β1-adrenoreceptor and G-protein β3 subunit genes in the Japanese population; the Suita Study. Hypertens Res 2004; 27: 31-37.
    • (2004) Hypertens Res , vol.27 , pp. 31-37
    • Shioji, K.1    Kokubo, Y.2    Mannami, T.3
  • 9
    • 0037137478 scopus 로고    scopus 로고
    • Human disorders in N-glycosylation and animal models
    • Freeze HH: Human disorders in N-glycosylation and animal models. Biochim Biophys Acta 2002; 1573: 388-393.
    • (2002) Biochim Biophys Acta , vol.1573 , pp. 388-393
    • Freeze, H.H.1
  • 10
    • 0036014925 scopus 로고    scopus 로고
    • Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome
    • De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, et al: Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 2002; 13: 1442-1448.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 1442-1448
    • De Jong, J.C.1    Van Der Vliet, W.A.2    Van Den Heuvel, L.P.3
  • 11
    • 0033982893 scopus 로고    scopus 로고
    • Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome
    • Monkawa T, Kurihara I, Kobayashi K, Hayashi M, Saruta T: Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome. J Am Soc Nephrol 2000; 11: 65-70.
    • (2000) J Am Soc Nephrol , vol.11 , pp. 65-70
    • Monkawa, T.1    Kurihara, I.2    Kobayashi, K.3    Hayashi, M.4    Saruta, T.5
  • 12
    • 0041429622 scopus 로고    scopus 로고
    • Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkarosis
    • Fukuyama S, Okudaira S, Yamazato S, Yamazato M, Ohta T: Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkarosis. Kidney Int 2003; 64: 808-816.
    • (2003) Kidney Int , vol.64 , pp. 808-816
    • Fukuyama, S.1    Okudaira, S.2    Yamazato, S.3    Yamazato, M.4    Ohta, T.5
  • 13
    • 3242664214 scopus 로고    scopus 로고
    • Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome
    • Maki N, Komatsuda A, Wakui H, et al: Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome. Nephrol Dial Transplant 2004; 19: 1761-1766.
    • (2004) Nephrol Dial Transplant , vol.19 , pp. 1761-1766
    • Maki, N.1    Komatsuda, A.2    Wakui, H.3
  • 14
    • 15544384004 scopus 로고    scopus 로고
    • Molecular physiology and pathophysiology of electroneutral cation-chroride cotransporters
    • Gamba G: Molecular physiology and pathophysiology of electroneutral cation-chroride cotransporters. Physiol Rev 2005; 85: 423-493.
    • (2005) Physiol Rev , vol.85 , pp. 423-493
    • Gamba, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.