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A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. , de Mattia F., Hum Mol Genet. December 15, 2004; 13 (24): 3045-56.
Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum. , Buck TM., Am J Physiol Cell Physiol. November 1, 2004; 287 (5): C1292-9.
Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity. , Kamsteeg EJ., Biochem Biophys Res Commun. April 6, 2001; 282 (3): 683-90.
Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus. , Marr N., Pflugers Arch. April 1, 2001; 442 (1): 73-7.
cDNA and genomic cloning of mouse aquaporin-2: functional analysis of an orthologous mutant causing nephrogenic diabetes insipidus. , Yang B., Genomics. April 1, 1999; 57 (1): 79-83.
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. , Mulders SM., J Clin Invest. July 1, 1998; 102 (1): 57-66.
Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. , Tamarappoo BK., J Clin Invest. May 15, 1998; 101 (10): 2257-67.
Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. , Canfield MC., Hum Mol Genet. October 1, 1997; 6 (11): 1865-71.
Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. , Deen PM., J Clin Invest. May 1, 1995; 95 (5): 2291-6.