Novel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees.

The Trafficking of the Water Channel Aquaporin-2 in Renal Principal Cells-a Potential Target for Pharmacological Intervention in Cardiovascular Diseases. Front Pharmacol (2016) 0.78

Isoforms of Spectrin and Ankyrin Reflect the Functional Topography of the Mouse Kidney. PLoS One (2016) 0.76

Influence of mesenchymal stem cells on expression of AQP1 and AQP2 in rats with nephropathy induced by adriamycin. Int J Clin Exp Med (2015) 0.75

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat (2000) 13.25

Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics (2009) 4.31

The structure of aquaporins. Q Rev Biophys (2006) 1.90

Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol (2005) 1.57

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol (2006) 1.48

Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol (1999) 1.33

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J Cell Physiol (2008) 1.33

Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport. J Am Soc Nephrol (1992) 1.29

Aquaporins in kidney pathophysiology. Nat Rev Nephrol (2010) 1.18

Aquaporin 2 mutations in nephrogenic diabetes insipidus. Semin Nephrol (2008) 1.15

Bypassing vasopressin receptor signaling pathways in nephrogenic diabetes insipidus. Semin Nephrol (2008) 1.07

Congenital nephrogenic diabetes insipidus: the current state of affairs. Pediatr Nephrol (2012) 1.04

Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. Nephron Physiol (2006) 1.02

Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus. Endocr J (2003) 0.98

Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus. Am J Med Genet (1996) 0.97

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2. Clin Exp Nephrol (2012) 0.87

Characterization of AQP-2 gene mutation (R254Q) in a family with dominant nephrogenic DI. Pediatr Int (2013) 0.83

Nephrogenic diabetes insipidus: identification of the genetic defect. Pediatr Nephrol (1993) 0.82

Structure-function relationships in aquaporins. Semin Nephrol (2006) 0.79

Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus. Int J Clin Exp Med (2010) 0.79

A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus. J Pediatr Endocrinol Metab (2011) 0.78