An X-linked NDI mutation reveals a requirement for cell surface V2R expression.

doi:10.1210/mend.11.6.9919

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Article

An X-linked NDI mutation reveals a requirement for cell surface V2R expression.

Molecular endocrinology (Baltimore, Md.) - 1 Jun 1997

Sadeghi H M, Innamorati G, Birnbaumer M

Abstract excerpt

Function and biochemical properties of the V2 vasopressin receptor (V2R) mutant R337ter, identified in patients suffering from X-linked recessive nephrogenic diabetes insipidus, were investigated by expression in COS.M6 or HEK293 cells. Binding assays and measurements of adenylyl cyclase activity...

Topics

Adenylyl Cyclases
Amino Acid Sequence
Animals
Arginine Vasopressin
COS Cells
Cell Line
Diabetes Insipidus, Nephrogenic
Genes, Recessive
Humans
Molecular Sequence Data
Mutation
Receptors, Vasopressin
Sequence Deletion
X Chromosome

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