Related references
Note: Only part of the references are listed.Spectrum of Mutations in Gitelman Syndrome
Rosa Vargas-Poussou et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney
Leping Shao et al.
AMERICAN JOURNAL OF NEPHROLOGY (2008)
A thiazide test for the diagnosis of renal tubular hypokalemic disorders
Giacomo Colussi et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: relevance to therapy of nephrogenic diabetes insipidus
J. H. Robben et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2007)
The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion
Diana Pacheco-Alvarez et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Affinity-defining domains in the Na-Cl cotransporter -: A different location for Cl- and thiazide binding
Erika Moreno et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters
G Gamba
PHYSIOLOGICAL REVIEWS (2005)
Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease
E Sabath et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2004)
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
DA Koolen et al.
JOURNAL OF MEDICAL GENETICS (2004)
The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure - The JNC 7 Report
AV Chobanian et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2003)
N-glycosylation at two sites critically alters thiazide binding and activity of the rat thiazide-sensitive Na+:Cl- cotransporter
RS Hoover et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome
JC De Jong et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2002)
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
DN Cruz et al.
KIDNEY INTERNATIONAL (2001)
The zyxin-related protein TRIP6 interacts with PDZ motifs in the adaptor protein RIL and the protein tyrosine phosphatase PTP-BL
E Cuppen et al.
EUROPEAN JOURNAL OF CELL BIOLOGY (2000)
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension
O Melander et al.
HYPERTENSION (2000)