From gene to disease; from vasopressin V2 receptor and aquaporin-2 to nephrogenic diabetes insipidus;Van gen naar ziekte; van vasopressine-V2-receptor en aquaporine 2 naar nefrogene diabetes insipidus

Nederlands Tijdschrift voor Geneeskunde

Volumn 144, Issue 50, 2000, Pages 2402-2404

  Knoers, N V A M ^a   Deen, P M T ^a  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; VASOPRESSIN V2 RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; ENDOPLASMIC RETICULUM; GENETIC PREDISPOSITION; GOLGI COMPLEX; HUMAN; KIDNEY CONCENTRATING CAPACITY; MEMBRANE VESICLE; NEPHROGENIC DIABETES INSIPIDUS; PROTEIN TRANSPORT;

AQUAPORIN 2; AQUAPORIN 6; AQUAPORINS; ARGININE VASOPRESSIN; CHROMOSOMES, HUMAN, PAIR 12; DIABETES INSIPIDUS, NEPHROGENIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); MUTATION; RECEPTORS, VASOPRESSIN; X CHROMOSOME;

EID: 0034627370     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus
2. Nephrogenic diabetes insipidus
3. Aquaporin molecular biology and clinical abnormalities of the water transport channels
4. Molecular cloning of the receptor for human antidiuretic hormone
5. Isolation of human aquaporin-CD gene
6. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex
7. An impaired routing of wildtype aquaporin2 after tetramerization with an aquaporin2 mutant explains dominant nephrogenic diabetes insipidus