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116 results

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Page 1
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X. Vargas-Poussou R, et al. J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17. J Am Soc Nephrol. 2011. PMID: 21415153 Free PMC article.
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). ...In summary, missense mutations account for approxi …
Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, whic …
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH. Glaudemans B, et al. Eur J Hum Genet. 2012 Mar;20(3):263-70. doi: 10.1038/ejhg.2011.189. Epub 2011 Oct 19. Eur J Hum Genet. 2012. PMID: 22009145 Free PMC article.
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) g …
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with …
Gitelman syndrome.
Knoers NV, Levtchenko EN. Knoers NV, et al. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Orphanet J Rare Dis. 2008. PMID: 18667063 Free PMC article. Review.
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. ...Mutations in the solute carrier family12, member …
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alk …
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. Melander O, et al. Hypertension. 2000 Sep;36(3):389-94. doi: 10.1161/01.hyp.36.3.389. Hypertension. 2000. PMID: 10988270
We report 4 patients with Gitelman's syndrome from southern Sweden, all in whom we identified compound heterozygous mutations in the thiazide-sensitive NaCl-cotransporter gene (Gly439Ser, Gly731Arg, Gly741Arg, Thr304Pro, and 2745insAGCA), …
We report 4 patients with Gitelman's syndrome from southern Sweden, all in whom we identified compound heterozygous mutations …
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. Pollak MR, et al. J Am Soc Nephrol. 1996 Oct;7(10):2244-8. doi: 10.1681/ASN.V7102244. J Am Soc Nephrol. 1996. PMID: 8915985
A defect in distal renal tubular sodium chloride handling is thought to be responsible for the clinical phenotype of Gitelman's syndrome, a variant of Bartter's syndrome. To study the possible involvement of the renal thiazide-sensitive NaCl …
A defect in distal renal tubular sodium chloride handling is thought to be responsible for the clinical phenotype of Gitelman's sy …
Acquired gitelman syndrome.
Kim YK, Song HC, Kim YS, Choi EJ. Kim YK, et al. Electrolyte Blood Press. 2009 Jun;7(1):5-8. doi: 10.5049/EBP.2009.7.1.5. Epub 2009 Jun 30. Electrolyte Blood Press. 2009. PMID: 21468178 Free PMC article.
This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCCT). Acquired Gitelman syndrome has been reported and the majority has been associated with Sjogren's syndrome. The …
This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter …
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. Sabath E, et al. Am J Physiol Renal Physiol. 2004 Aug;287(2):F195-203. doi: 10.1152/ajprenal.00044.2004. Epub 2004 Apr 6. Am J Physiol Renal Physiol. 2004. PMID: 15068971 Free article.
Most of the missense mutations that have been described in the human SLC12A3 gene encoding the thiazide-sensitive Na(+)-Cl(-) cotransporter (TSC, NCC, or NCCT), as the cause of Gitelman disease, block TSC function by interfering with normal protein pro …
Most of the missense mutations that have been described in the human SLC12A3 gene encoding the thiazide-sensitive Na(+)-Cl(-) …
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. Monkawa T, et al. J Am Soc Nephrol. 2000 Jan;11(1):65-70. doi: 10.1681/ASN.V11165. J Am Soc Nephrol. 2000. PMID: 10616841 Clinical Trial.
Gitelman's syndrome (GS) is an autosomal recessive disorder characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter (TSC) gene mu …
Gitelman's syndrome (GS) is an autosomal recessive disorder characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, …
Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport.
Abuladze N, Yanagawa N, Lee I, Jo OD, Newman D, Hwang J, Uyemura K, Pushkin A, Modlin RL, Kurtz I. Abuladze N, et al. J Am Soc Nephrol. 1998 May;9(5):819-26. doi: 10.1681/ASN.V95819. J Am Soc Nephrol. 1998. PMID: 9596079
Genetic analysis has demonstrated complete linkage between the human thiazide-sensitive sodium chloride cotransporter gene (NCCT or TSC) and Gitelman's syndrome (GS). ...Furthermore, functional evidence is provided that the underlying cause of G …
Genetic analysis has demonstrated complete linkage between the human thiazide-sensitive sodium chloride cotransporter g …
Structure-function relationships in the renal NaCl cotransporter (NCC).
Moreno E, de Los Heros P, Plata C, Cutler C, Vega-Mateos A, Vázquez N, Gamba G. Moreno E, et al. Curr Top Membr. 2019;83:177-204. doi: 10.1016/bs.ctm.2019.01.003. Epub 2019 Feb 18. Curr Top Membr. 2019. PMID: 31196605 Review.
The thiazide-sensitive Na(+)-Cl(-) cotransporter (NCC) is the major pathway for salt reabsorption in the distal convoluted tubule, serves as a receptor for thiazide-type diuretics, and is involved in inherited diseases associated with abnormal blood pressure. …
The thiazide-sensitive Na(+)-Cl(-) cotransporter (NCC) is the major pathway for salt reabsorption in the distal convolu …
116 results