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Dominant-negative diabetes insipidus and other endocrinopathies
John A. Phillips III
John A. Phillips III
Published December 1, 2003
Citation Information: J Clin Invest. 2003;112(11):1641-1643. https://doi.org/10.1172/JCI20441.
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Commentary

Dominant-negative diabetes insipidus and other endocrinopathies

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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.

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John A. Phillips III

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