2. Aquaporin-2, a Vasopressin-Sensitive Water Channel, and Nephrogenic Diabetes Insipidus

Internal Medicine

Volumn 37, Issue 2, 1998, Pages 215-217

  Kuwahara, Michio ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Autosomal recessive nephrogenic insipidus; Compound heterozygote; Point mutation; Water permeability

Indexed keywords

AQP2 PROTEIN, HUMAN; AQUAPORIN; AQUAPORIN 2; AQUAPORIN 6; ION CHANNEL; RECOMBINANT PROTEIN; VASOPRESSIN DERIVATIVE; WATER;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CASE REPORT; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; IN VITRO STUDY; MALE; METABOLISM; MOLECULAR GENETICS; NEPHROGENIC DIABETES INSIPIDUS; OOCYTE; PEDIGREE; POINT MUTATION; XENOPUS;

AMINO ACID SEQUENCE; ANIMALS; AQUAPORIN 2; AQUAPORIN 6; AQUAPORINS; DIABETES INSIPIDUS, NEPHROGENIC; FEMALE; HETEROZYGOTE; HUMANS; ION CHANNELS; MALE; MOLECULAR SEQUENCE DATA; OOCYTES; PEDIGREE; POINT MUTATION; RECOMBINANT PROTEINS; VASOPRESSINS; WATER; XENOPUS;

EID: 0031989356     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.37.215     Document Type: Conference Paper

References (4)

1. Fujiwara TM, Morgan K, Eichet DG. Molecular biology of diabetes insipidus. Annu Rev Med 46: 331, 1995.
2. Deen PMT, Verdijk MA, Knoers NVAM, et al. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264: 92, 1994.
3. van Lieburg AF, Verdijk MA, Knoers VVAM, et al. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet 55: 648, 1994.
4. Mulders SM, Knoers NVAM, van Lieburg AF, et al. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J Am Soc Nephrol 8: 242, 1997.