Dominant-negative diabetes insipidus and other endocrinopathies.
other · Level V
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- Record sourced from PubMed, PMID 14660740.
- Also identified by PMC identifier 281655.
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Abstract
Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin (AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.
Medical subject headings
- Arginine Vasopressin
- Diabetes Insipidus, Neurogenic
- Hypothalamus
- Mutation
- Neurons
- Protein Precursors