Surgical stress-induced transient nephrogenic diabetes insipidus (NDI) associated with decreased Vasopressin receptor2 (AVPR2) expression linked to nonsense-mediated mRNA decay and incomplete skewed X-inactivation in a female patient with a heterozygous AVPR2 mutation (c. 89-90 delAC).
Demura
Masashi
M
Takeda
Yoshiyu
Y
Yoneda
Takashi
T
Oda
Nobushige
N
Bando
Yukihiro
Y
Mabuchi
Hiroshi
H
D018389:Codon, Nonsense; D003919:Diabetes Insipidus / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007044:Hysterectomy; D008875:Middle Aged; D011183:Postoperative Complications; D017483:Receptors, Vasopressin / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D018389:Codon, Nonsense; D017483:Receptors, Vasopressin