Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2

Aquaporin 2: From its discovery to molecular structure and medical implications

(2012) Sei Sasaki   MOLECULAR ASPECTS OF MEDICINE

Familial forms of diabetes insipidus: clinical and molecular characteristics

(2011) Muriel Babey et al.   Nature Reviews Endocrinology

Aquaporins in kidney pathophysiology

(2010) Yumi Noda et al.   Nature Reviews Nephrology

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation

(2009) Paul JM Savelkoul et al.   HUMAN MUTATION

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

(2008) Masaya Fujimoto et al.   BMC Medical Genetics

Correlation between Clinical Phenotypes and X-inactivation Patterns in Six Female Carriers with Heterozygote Vasopressin Type 2 Receptor Gene Mutations

(2008) Mari SATOH et al.   ENDOCRINE JOURNAL

AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

(2008) Elias Spanakis et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Aquaporin 2 Mutations in Nephrogenic Diabetes Insipidus

(2008) Anne J.M. Loonen et al.   SEMINARS IN NEPHROLOGY