MOLECULAR BIOLOGY OF DIABETES INSIPIDUS

The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene ( prepro-AVP-NPII ), the arginine-vasopressin receptor 2 gene ( AVPR2 ), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2 ), provide t...

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Bibliographic Details
Published in:Annual review of medicine 1995-01, Vol.46 (1), p.331-343
Main Authors: Fujiwara, M.Sc, T. Mary, Morgan, Ph.D, Kenneth, Bichet, M.D, Daniel G
Format: Article
Language:English
Subjects:
Amino Acid Sequence
antidiuretic hormone
aquaporin
Aquaporin 2
Aquaporin 6
Aquaporins
arginine vasopressin
Arginine Vasopressin - genetics
Base Sequence - genetics
Biological and medical sciences
Chromosome Aberrations - genetics
Chromosome Disorders
Diabetes Insipidus - genetics
DNA Mutational Analysis
Endocrinopathies
Genes, Recessive
Genetic Carrier Screening
Humans
Hypothalamus. Hypophysis. Epiphysis (diseases)
Ion Channels - genetics
Medical sciences
Molecular Sequence Data
mutation
Neurophysins - genetics
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Oxytocin
Pedigree
Protein Precursors - genetics
receptor
Receptors, Vasopressin - genetics
Sex Chromosome Aberrations - genetics
X Chromosome
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Summary:The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene ( prepro-AVP-NPII ), the arginine-vasopressin receptor 2 gene ( AVPR2 ), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2 ), provide the basis for our understanding of three different hereditary forms of diabetes insipidus: autosomal dominant neurogenic diabetes insipidus, X-linked nephrogenic diabetes insipidus, and autosomal recessive nephrogenic diabetes insipidus, respectively. These advances provide diagnostic tools for physicians caring for these patients.
ISSN:0066-4219
1545-326X
DOI:10.1146/annurev.med.46.1.331