Research paperFunctional characterization of five V2 vasopressin receptor gene mutations
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Pediatric Disorders of Water Balance
2011, Pediatric Clinics of North AmericaCitation Excerpt :Of the 211 reported AVPR2 mutations causing XNDI, approximately half are missense, and 31 of these have been characterized functionally.12 Most AVPR2 missense mutations result in a translated but misfolded V2R protein that remains trapped in the endoplasmic reticulum.13–15 Pharmacologic chaperones can partially rescue the cell-surface expression and functional activity of misfolded mutant V2Rs that would otherwise be targeted for degradation.16–18
Pediatric Disorders of Water Balance
2009, Endocrinology and Metabolism Clinics of North AmericaCitation Excerpt :Of the 211 reported AVPR2 mutations causing XNDI, approximately half are missense, and 31 of these have been characterized functionally.12 Most AVPR2 missense mutations result in a translated but misfolded V2R protein that remains trapped in the endoplasmic reticulum.13–15 Pharmacologic chaperones can partially rescue the cell-surface expression and functional activity of misfolded mutant V2Rs that would otherwise be targeted for degradation.16–18
Diabetes Insipidus
2008, Comprehensive Pediatric Nephrology: Text with CD-ROMHereditary causes of nephrogenic diabetes insipidus
2008, Molecular and Genetic Basis of Renal DiseaseDiabetes Insipidus
2008, Comprehensive Pediatric NephrologyHereditary causes of nephrogenic diabetes insipidus
2007, Molecular and Genetic Basis of Renal Disease: A Companion to Brenner and Rector's The Kidney