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Clinical practice guideline on diagnosis and treatment of hyponatraemia.
Hyponatraemia, defined as a serum sodium concentration <135 mmol/l, is the most common disorder of body fluid and electrolyte balance encountered in clinical practice. It can lead to a wide spectrumExpand
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A Peptide Derived from a β2-Adrenergic Receptor Transmembrane Domain Inhibits Both Receptor Dimerization and Activation*
One of the assumptions of the mobile receptor hypothesis as it relates to G protein-coupled receptors is that the stoichiometry of receptor, G protein, and effector is 1:1:1 (Bourne, H. R., Sanders,Expand
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Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.
Over 150 mutations within the coding sequence of the V2 vasopressin receptor (V2R) gene are known to cause nephrogenic diabetes insipidus (NDI). A large number of these mutant receptors fail to foldExpand
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Agalsidase-Beta Therapy for Advanced Fabry Disease
Context Fabry disease is an X-linked storage disorder characterized by deficient lysosomal enzyme activity and excessive deposition of glycosphingolipids in vascular endothelial cells. ContributionExpand
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Urinary excretion of aquaporin-2 in patients with diabetes insipidus.
BACKGROUND Urine-concentrating ability is regulated by vasopressin. Recently, the specific water-channel protein of the renal collecting duct, known as aquaporin-2, was cloned. However, it is notExpand
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Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.
In many mendelian diseases, some mutations result in the synthesis of misfolded proteins that cannot reach a transport-competent conformation. In X-linked nephrogenic diabetes insipidus, most of theExpand
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Oral tolvaptan is safe and effective in chronic hyponatremia.
Vasopressin antagonists increase the serum sodium concentration in patients who have euvolemia and hypervolemia with hyponatremia in the short term (</=30 days), but their safety and efficacy withExpand
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Molecular biology of hereditary diabetes insipidus.
The identification, characterization, and mutational analysis of three different genes-the arginine vasopressin gene (AVP), the arginine vasopressin receptor 2 gene (AVPR2), and theExpand
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Hyponatremia in cirrhosis: From pathogenesis to treatment
A disturbance in body water homeostasis is a common feature of advanced cirrhosis.1-4 This disturbance is always associated with the existence of ascites and is characterized by an inability toExpand
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Functional rescue of the constitutively internalized V2 vasopressin receptor mutant R137H by the pharmacological chaperone action of SR49059.
In most cases, nephrogenic diabetes insipidus results from mutations in the V2 vasopressin receptor (V2R) gene that cause intracellular retention of improperly folded receptors. We previouslyExpand
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