Abstract

References
1.
Birnbaumer
M
Seibold
A
Gilbert
S
Ishido
M
Barberis
C
Antaramian
A
Molecular cloning of the receptor for human antidiuretic hormone . Nature
1992 ; 357 : 333 –5 .
2.
Carty
H
Ratcliffe
J.
The shaken infant syndrome . BMJ
1995 ; 310 : 344 –5 .
3.
Fujiwara
TM
Morgan
K
Bichet
DG.
Molecular biology of diabetes insipidus . Annu Rev Med.
1995 ; 46 : 331 –43 .
4.
Pan
Y
Wilson
P
Gitschier
J.
The effect of eight V2 vasopressin receptor mutations on stimulation of adenylyl cyclase and binding to vasopressin . J Biol Chem
1994 ; 269 : 31
933 –7 .
5.
Rosenthal
W
Antaramian
A
Gilbert
S
Birnbaumer
M.
Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase . J Biol Chem
1993 ; 268 : 13
030 –3 .
6.
Tsukaguchi
H
Matsubara
H
Taketani
S
Mori
Y
Seido
T
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus . J Clin Invest
1995 ; 96 : 2043 –50 .
7.
Uttley
WS
Thistlethwaite
D.
Failure to detect the carrier in congenital nephrogenic diabetes insipidus . Arch Dis Child
1972 ; 47 : 137 –9 .
8.
Van Lieburg
AF
Verdijk
MAJ
Schoute
F
Ligtenberg
MJL
van Oost
BA
Waldhauser
F
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation . Hum Genet
1995 ; 96 : 70 –8 .
9.
Nomura
Y
Onigata
K
Nagashima
T
Yutani
S
Mochizuki
H
Nagashima
K
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation . J Clin Endocrinol Metab
1997 ; 82 : 3434 –7 .
10.
Naumova
AK
Plenge
RM
Bird
LM
Leppert
M
Morgan
K
Heritability of X chromosome — inactivation phenotype in a large family . Am J Hum Genet
1996 ; 58 : 1111 –9 .
11.
Mulders
SM
Bichet
DG
Rijss
JPL
Kamsteeg
EJ
Arthus
MF
Lonergan
M
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex . J Clin Invest
1998 ; 102 : 57 –66 .
