메뉴 건너뛰기




Volumn 9, Issue 5, 1998, Pages 819-826

Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: Evidence for abnormal thiazide-sensitive NaCl cotransport

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

EID: 0031970696     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (41)

References (23)
  • 1
    • 0013976561 scopus 로고
    • A new familial disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman HJ, Graham JB, Welt LG: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235, 1966
    • (1966) Trans Assoc Am Physicians , vol.79 , pp. 221-235
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 2
    • 0014678452 scopus 로고
    • A familial disorder characterized by hypokalemia and hypomagnesemia
    • Gitelman HJ, Graham JB, Welt LG: A familial disorder characterized by hypokalemia and hypomagnesemia. Ann NY Acad Sci 162: 856-864, 1969
    • (1969) Ann NY Acad Sci , vol.162 , pp. 856-864
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 3
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
    • Simon DB, Nelson-Williams C, Bia MJ: Gitelman's variant of Bartter's syndrome, inherited hypokalaemic is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30, 1996
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1    Nelson-Williams, C.2    Bia, M.J.3
  • 4
    • 0030410932 scopus 로고    scopus 로고
    • Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred
    • Pollak MR, Delaney VB, Graham RM, Hebert SC: Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred. J Am Soc Nephrol 7: 2244-2248, 1996
    • (1996) J Am Soc Nephrol , vol.7 , pp. 2244-2248
    • Pollak, M.R.1    Delaney, V.B.2    Graham, R.M.3    Hebert, S.C.4
  • 5
    • 0029778992 scopus 로고    scopus 로고
    • Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome
    • Karolyi L, Ziegler A, Pollak M: Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome. Pediatr Nephrol 10: 551-554, 1996
    • (1996) Pediatr Nephrol , vol.10 , pp. 551-554
    • Karolyi, L.1    Ziegler, A.2    Pollak, M.3
  • 6
    • 0029764485 scopus 로고    scopus 로고
    • Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families
    • Lemmink HH, van den Heuvel LP, van Dijk HA: Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families. Pediatr Nephrol 10: 403-407, 1996
    • (1996) Pediatr Nephrol , vol.10 , pp. 403-407
    • Lemmink, H.H.1    Van Den Heuvel, L.P.2    Van Dijk, H.A.3
  • 7
    • 0030583146 scopus 로고    scopus 로고
    • Identification of a cDNa encoding a thiazide-sensitive sodiumchloride cotransporter from the human and its mRNa expression in various tissues
    • Chang H, Tashiro K, Hirai M, Ikeda K, Kurokawa K, Fujita T: Identification of a cDNA encoding a thiazide-sensitive sodiumchloride cotransporter from the human and its mRNA expression in various tissues. Biochem Biophys Res Commun 223: 324-328, 1996
    • (1996) Biochem Biophys Res Commun , vol.223 , pp. 324-328
    • Chang, H.1    Tashiro, K.2    Hirai, M.3    Ikeda, K.4    Kurokawa, K.5    Fujita, T.6
  • 8
    • 0030218857 scopus 로고    scopus 로고
    • Molecular cloning, expression pattern and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter
    • Mastroianni N, De Fusco M, Zollo M: Molecular cloning, expression pattern and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter. Genomics 35: 486-493, 1996
    • (1996) Genomics , vol.35 , pp. 486-493
    • Mastroianni, N.1    De Fusco, M.2    Zollo, M.3
  • 9
    • 0027405688 scopus 로고
    • Primary structure and functional expression of a cDNa encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter
    • Gamba G, Saltzberg SN, Lombardi M: Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter. Proc Natl Acad Sci USA 90: 2749-2753, 1993
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 2749-2753
    • Gamba, G.1    Saltzberg, S.N.2    Lombardi, M.3
  • 10
    • 0028201013 scopus 로고
    • Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney
    • Gamba G, Miyanoshita A, Lombardi M, Lytton J, Lee WS, Hediger MA, Hebert SC: Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem 1994: 17713-17722, 1994
    • (1994) J Biol Chem , vol.1994 , pp. 17713-17722
    • Gamba, G.1    Miyanoshita, A.2    Lombardi, M.3    Lytton, J.4    Lee, W.S.5    Hediger, M.A.6    Hebert, S.C.7
  • 11
    • 0029189663 scopus 로고
    • Expression of the thiazide-sensitive Na-Cl cotransporter in rat and human kidney
    • Obermuller N, Bernstein P, Velasquez H: Expression of the thiazide-sensitive Na-Cl cotransporter in rat and human kidney. Am J Physiol 269: F900-F910, 1995
    • (1995) Am J Physiol , vol.269
    • Obermuller, N.1    Bernstein, P.2    Velasquez, H.3
  • 12
    • 0029832885 scopus 로고    scopus 로고
    • Localization of the thiazide sensitive Na-Cl cotransporter, rTSCl, in the rat kidney
    • Plotkin MD, Kaplan MR, Verlander JW: Localization of the thiazide sensitive Na-Cl cotransporter, rTSCl, in the rat kidney. Kidney Int 50: 174-183, 1996
    • (1996) Kidney Int , vol.50 , pp. 174-183
    • Plotkin, M.D.1    Kaplan, M.R.2    Verlander, J.W.3
  • 13
    • 0031033262 scopus 로고    scopus 로고
    • Expression of the sodium-chloride cotransporter in osteoblast-like cells: Effect of thiazide diuretics
    • Barry EL, Gesek FA, Kaplan MR, Hebert SC, Friedman PA: Expression of the sodium-chloride cotransporter in osteoblast-like cells: Effect of thiazide diuretics. Am J Physiol 272: C109-C116 1997
    • (1997) Am J Physiol , vol.272
    • Barry, E.L.1    Gesek, F.A.2    Kaplan, M.R.3    Hebert, S.C.4    Friedman, P.A.5
  • 14
    • 0029972220 scopus 로고    scopus 로고
    • Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome
    • Mastroianni N, Bettinelli A, Bianchetti M: Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet 59: 1019-1026, 1996
    • (1996) Am J Hum Genet , vol.59 , pp. 1019-1026
    • Mastroianni, N.1    Bettinelli, A.2    Bianchetti, M.3
  • 15
    • 10544232272 scopus 로고    scopus 로고
    • Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome
    • Takeuchi K, Kure S, Kato T: Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. J Clin Endocrinol Metab 81: 4496-4499, 1996
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4496-4499
    • Takeuchi, K.1    Kure, S.2    Kato, T.3
  • 16
    • 0026512508 scopus 로고
    • Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes
    • Bettinelli A, Bianchetti MG, Girardin E: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38-43, 1992
    • (1992) J Pediatr , vol.120 , pp. 38-43
    • Bettinelli, A.1    Bianchetti, M.G.2    Girardin, E.3
  • 17
    • 0023765041 scopus 로고
    • Bartter's syndrome: A review of 28 patients followed for 10 years
    • Rudin A: Bartter's syndrome: A review of 28 patients followed for 10 years. Acta Med Scand 224: 165-171, 1988
    • (1988) Acta Med Scand , vol.224 , pp. 165-171
    • Rudin, A.1
  • 18
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159, 1987
    • (1987) Anal Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 19
    • 0017390556 scopus 로고
    • A rapid, sensitive and versatile assay for protein using Coomassie brilliant blue G250
    • Sedmark JJ, Grossberg SE: A rapid, sensitive and versatile assay for protein using Coomassie brilliant blue G250. Anal Biochem 79: 544-552, 1977
    • (1977) Anal Biochem , vol.79 , pp. 544-552
    • Sedmark, J.J.1    Grossberg, S.E.2
  • 20
    • 0029382603 scopus 로고
    • Finding splice sites within a wilderness of RNA
    • Black DL: Finding splice sites within a wilderness of RNA. RNA 1: 763-771, 1995
    • (1995) RNA , vol.1 , pp. 763-771
    • Black, D.L.1
  • 21
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotansporter NKCC2
    • Simon DB, Karet FE, Hamdan JM, Dipietro S, Sanjad S, Lifton RP: Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotansporter NKCC2. Nat Genet 13: 183-188, 1996
    • (1996) Nat Genet , vol.13 , pp. 183-188
    • Simon, D.B.1    Karet, F.E.2    Hamdan, J.M.3    Dipietro, S.4    Sanjad, S.5    Lifton, R.P.6
  • 22
    • 57249093654 scopus 로고    scopus 로고
    • A carboxyterminal mutation of mouse thiazide-sensitive Na-Cl cotransporter abolishes function
    • Kunchaparty S, Ali N, Bernstein PL, Desir GV, Ellison DH: A carboxyterminal mutation of mouse thiazide-sensitive Na-Cl cotransporter abolishes function [Abstract]. J Am Soc Nephrol 7: 1284, 1996
    • (1996) J Am Soc Nephrol , vol.7 , pp. 1284
    • Kunchaparty, S.1    Ali, N.2    Bernstein, P.L.3    Desir, G.V.4    Ellison, D.H.5
  • 23
    • 0028246680 scopus 로고
    • Identification of two mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
    • Ogasawara M, Matsubara Y, Mikami H, Narisawa K: Identification of two mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum Mol Genet 3: 867-872, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 867-872
    • Ogasawara, M.1    Matsubara, Y.2    Mikami, H.3    Narisawa, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.