Dominant-negative diabetes insipidus and other endocrinopathies
AUTOR(ES)
Phillips, John A.
FONTE
American Society for Clinical Investigation
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=281655Documentos Relacionados
- A Dominant-Negative fur Mutation in Bradyrhizobium japonicum
- Dominant-negative inhibition of prion replication in transgenic mice
- Dominant-negative Inhibitors of the Clostridium perfringens ϵ-Toxin*
- Dominant-negative inhibitors of EBNA-1 of Epstein-Barr virus.
- Fragments of ATM which have dominant-negative or complementing activity.