Associated Papers
A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.
Mighell TL et al.
Nature Structural & Molecular Biology, 2025
Diagnosing a genetic disease in a donor-conceived child: case report and discussion of the ethical, legal, and practical issues.
Lemaire M et al.
Pediatric Nephrology (berlin, Germany), 2025
A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.
Li L et al.
International Medical Case Reports Journal, 2025
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.
Zmajkovicova K et al.
Blood Advances, 2024
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.
Ishida A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
Li Q et al.
Journal of Endocrinological Investigation, 2021
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.
Ding C et al.
American Journal of Medical Genetics. Part A, 2020
A need for a systematic genetic evaluation of hereditary polyuric patients.
Bichet DG et al.
Clinical Kidney Journal, 2016
Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.
Bockenhauer D et al.
Nature Reviews. Nephrology, 2015
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Diabetes insipidus: celebrating a century of vasopressin therapy.
Qureshi S et al.
Endocrinology, 2014
Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.
Fujimoto M et al.
Yonago Acta Medica, 2014
Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
Sasaki S et al.
Clinical and Experimental Nephrology, 2013
Phenotype variability in nephrogenic diabetes insipidus due to p.D85N mutation in the arginine vasopressin receptor 2 gene.
Morimoto T et al.
Nephrology (carlton, Vic.), 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.
Neocleous V et al.
Metabolism: Clinical and Experimental, 2012
A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.
Kobayashi D et al.
Ndt Plus, 2010
Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.
Faerch M et al.
Scandinavian Journal of Urology and Nephrology, 2010
Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus.
Faerch M et al.
American Journal of Physiology. Renal Physiology, 2009
AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.
Spanakis E et al.
Journal of Cellular Physiology, 2008
Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.
Faerch M et al.
Clinical Endocrinology, 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2006
[Congenital nephrogenic diabetes insipidus].
Morin D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2005
Intrafamilial phenotype variability in nephrogenic diabetes insipidus.
Kalenga K et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2002
The V2 vasopressin receptor mutations and fluid homeostasis.
Birnbaumer M
Cardiovascular Research, 2001
Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
Arthus MF et al.
Journal of the American Society of Nephrology : Jasn, 2000
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.
Morello JP et al.
The Journal of Clinical Investigation, 2000
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
Pasel K et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.
van Lieburg AF et al.
Journal of the American Society of Nephrology : Jasn, 1999
AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
Wildin RS et al.
Kidney International, 1998
The molecular basis of nephrogenic diabetes insipidus.
Oksche A et al.
Journal of Molecular Medicine (berlin, Germany), 1998
Congenital nephrogenic diabetes insipidus.
Bichet DG et al.
Journal of the American Society of Nephrology : Jasn, 1997
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes.
Sadeghi H et al.
Molecular Endocrinology (baltimore, Md.), 1997
Molecular analysis of X-linked nephrogenic diabetes insipidus.
Fujiwara TM et al.
European Journal of Endocrinology, 1996
Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
Wildin RS et al.
American Journal of Human Genetics, 1994
Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.
Knoers NV et al.
Kidney International, 1994
Vasopressin receptor mutations and nephrogenic diabetes insipidus.
Birnbaumer M
Archives of Medical Research, 0