MOLECULAR BIOLOGY OF DIABETES INSIPIDUS
| Autor: | T M Fujiwara, K Morgan, D G Bichet |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Receptors
Vasopressin medicine.medical_specialty X Chromosome DNA Mutational Analysis Molecular Sequence Data Genetic Carrier Screening Aquaporin Chromosome Disorders Genes Recessive Biology Aquaporins Oxytocin urologic and male genital diseases Ion Channels General Biochemistry Genetics and Molecular Biology Internal medicine Arginine vasopressin receptor 2 medicine Humans Amino Acid Sequence Protein Precursors Sex Chromosome Aberrations X chromosome Chromosome Aberrations Neurophysins Aquaporin 2 Base Sequence General Medicine medicine.disease Nephrogenic diabetes insipidus Aquaporin 6 Pedigree Arginine Vasopressin Endocrinology Diabetes insipidus Diabetes Insipidus hormones hormone substitutes and hormone antagonists Neurogenic diabetes insipidus |
| Zdroj: | Annual Review of Medicine. 46:331-343 |
| ISSN: | 1545-326X 0066-4219 |
| DOI: | 10.1146/annurev.med.46.1.331 |
| Popis: | ▪ Abstract 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. |
| Databáze: | OpenAIRE |
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