Dominant-negative diabetes insipidus and other endocrinopathies.
نویسنده
چکیده
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.
منابع مشابه
Hypophysis and Hypothalamus
3 Diseases ................................................................................. 17 3.1 Anterior Pituitary Deficiency................................................ 17 3.2 Central Diabetes Insipidus .................................................... 21 3.3 Precocious or Delayed Puberty............................................. 23 3.4 Other Endocrinopathies .......................
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عنوان ژورنال:
- The Journal of clinical investigation
دوره 112 11 شماره
صفحات -
تاریخ انتشار 2003