Associated Papers
First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus.
Chen X et al.
American Journal of Medical Genetics. Part A, 2024
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.
Morello JP et al.
Biochemistry, 2001
Clinical utility of direct mutation testing for congenital nephrogenic diabetes insipidus in families.
Wildin RS et al.
Pediatrics, 1999
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
Ala Y et al.
Journal of the American Society of Nephrology : Jasn, 1998
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides.
Shoji Y et al.
Human Mutation, 1998
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes.
Sadeghi H et al.
Molecular Endocrinology (baltimore, Md.), 1997
Detection of skewed X-inactivation in two female carriers of vasopressin type 2 receptor gene mutation.
Nomura Y et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Molecular and cellular defects in nephrogenic diabetes insipidus.
Knoers NV et al.
Current Opinion in Nephrology and Hypertension, 1996
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
Tsukaguchi H et al.
The Journal of Clinical Investigation, 1995
Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus.
Tsukaguchi H et al.
Kidney International, 1995
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
Bichet DG et al.
American Journal of Human Genetics, 1994