255 related articles for article (PubMed ID: 12039972)
1. 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; Willems PH; Knoers NV; Bindels RJ
J Am Soc Nephrol; 2002 Jun; 13(6):1442-8. PubMed ID: 12039972
[TBL] [Abstract][Full Text] [Related]
2. Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome.
Kunchaparty S; Palcso M; Berkman J; Velázquez H; Desir GV; Bernstein P; Reilly RF; Ellison DH
Am J Physiol; 1999 Oct; 277(4):F643-9. PubMed ID: 10516289
[TBL] [Abstract][Full Text] [Related]
3. 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; Vandewalle A; van den Heuvel LP; Knoers NV; Bindels RJ
Nephrol Dial Transplant; 2004 May; 19(5):1069-76. PubMed ID: 15102966
[TBL] [Abstract][Full Text] [Related]
4. Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease.
Sabath E; Meade P; Berkman J; de los Heros P; Moreno E; Bobadilla NA; Vázquez N; Ellison DH; Gamba G
Am J Physiol Renal Physiol; 2004 Aug; 287(2):F195-203. PubMed ID: 15068971
[TBL] [Abstract][Full Text] [Related]
5. Abnormal reabsorption of Na+/CI- by the thiazide-inhibitable transporter of the distal convoluted tubule in Gitelman's syndrome.
Colussi G; Rombolà G; Brunati C; De Ferrari ME
Am J Nephrol; 1997; 17(2):103-11. PubMed ID: 9096439
[TBL] [Abstract][Full Text] [Related]
6. Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.
Reissinger A; Ludwig M; Utsch B; Prömse A; Baulmann J; Weisser B; Vetter H; Kramer HJ; Bokemeyer D
Kidney Blood Press Res; 2002; 25(6):354-62. PubMed ID: 12590198
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.
Starremans PG; Kersten FF; Knoers NV; van den Heuvel LP; Bindels RJ
J Am Soc Nephrol; 2003 Jun; 14(6):1419-26. PubMed ID: 12761241
[TBL] [Abstract][Full Text] [Related]
8. Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome.
Loffing J; Vallon V; Loffing-Cueni D; Aregger F; Richter K; Pietri L; Bloch-Faure M; Hoenderop JG; Shull GE; Meneton P; Kaissling B
J Am Soc Nephrol; 2004 Sep; 15(9):2276-88. PubMed ID: 15339977
[TBL] [Abstract][Full Text] [Related]
9. [Gitelman's syndrome: an important differential diagnosis of hypokalemia].
Kurschat C; Heering P; Grabensee B
Dtsch Med Wochenschr; 2003 May; 128(22):1225-8. PubMed ID: 12772080
[TBL] [Abstract][Full Text] [Related]
10. The molecular basis of inherited hypokalemic alkalosis: Bartter's and Gitelman's syndromes.
Simon DB; Lifton RP
Am J Physiol; 1996 Nov; 271(5 Pt 2):F961-6. PubMed ID: 8945989
[TBL] [Abstract][Full Text] [Related]
11. Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman's syndrome.
Yoo TH; Lee SH; Yoon K; Baek H; Chung JH; Lee T; Ihm C; Kim M
Am J Kidney Dis; 2003 Dec; 42(6):E11-6. PubMed ID: 14655226
[TBL] [Abstract][Full Text] [Related]
12. Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis.
Fukuyama S; Okudaira S; Yamazato S; Yamazato M; Ohta T
Kidney Int; 2003 Sep; 64(3):808-16. PubMed ID: 12911530
[TBL] [Abstract][Full Text] [Related]
13. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter.
Lin SH; Cheng NL; Hsu YJ; Halperin ML
Am J Kidney Dis; 2004 Feb; 43(2):304-12. PubMed ID: 14750096
[TBL] [Abstract][Full Text] [Related]
14. From bench to bedside: diagnosis of Gitelman's syndrome -- defect of sodium-chloride cotransporter in renal tissue.
Jang HR; Lee JW; Oh YK; Na KY; Joo KW; Jeon US; Cheong HI; Kim J; Han JS
Kidney Int; 2006 Aug; 70(4):813-7. PubMed ID: 16837915
[No Abstract] [Full Text] [Related]
15. Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
Lin SH; Shiang JC; Huang CC; Yang SS; Hsu YJ; Cheng CJ
J Clin Endocrinol Metab; 2005 May; 90(5):2500-7. PubMed ID: 15687331
[TBL] [Abstract][Full Text] [Related]
16. The structural unit of the thiazide-sensitive NaCl cotransporter is a homodimer.
de Jong JC; Willems PH; Mooren FJ; van den Heuvel LP; Knoers NV; Bindels RJ
J Biol Chem; 2003 Jul; 278(27):24302-7. PubMed ID: 12704198
[TBL] [Abstract][Full Text] [Related]
17. N-Glycosylation at two sites critically alters thiazide binding and activity of the rat thiazide-sensitive Na(+):Cl(-) cotransporter.
Hoover RS; Poch E; Monroy A; Vázquez N; Nishio T; Gamba G; Hebert SC
J Am Soc Nephrol; 2003 Feb; 14(2):271-82. PubMed ID: 12538726
[TBL] [Abstract][Full Text] [Related]
18. Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syrén ML; Tedeschi S; Cesareo L; Bellantuono R; Colussi G; Procaccio M; Alì A; Domenici R; Malberti F; Sprocati M; Sacco M; Miglietti N; Edefonti A; Sereni F; Casari G; Coviello DA; Bettinelli A
Hum Mutat; 2002 Jul; 20(1):78. PubMed ID: 12112667
[TBL] [Abstract][Full Text] [Related]
19. Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
Melander O; Orho-Melander M; Bengtsson K; Lindblad U; Râstam L; Groop L; Hulthén UL
Hypertension; 2000 Sep; 36(3):389-94. PubMed ID: 10988270
[TBL] [Abstract][Full Text] [Related]
20. The pathophysiological and molecular basis of Bartter's and Gitelman's syndromes.
Bhandari S
Postgrad Med J; 1999 Jul; 75(885):391-6. PubMed ID: 10474721
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
