Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis [PDF]
Biomedicines, 2021 Congenital nephrogenic diabetes insipidus (CNDI) is a genetic disorder caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 genes, rendering collecting duct cells insensitive to the peptide hormone arginine vasopressin ...
Ming-Chun Chen +8 more
doaj +5 more sources
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant. [PDF]
Clin Pediatr Endocrinol, 2022 . X-linked nephrogenic diabetes insipidus (NDI) is caused by variations in arginine vasopressin receptor 2 (AVPR2). Some patients show partial resistance to arginine vasopressin (AVP).
Ishida A +6 more
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Congenital nephrogenic diabetes insipidus arginine vasopressin receptor 2 gene mutation at new site: A case report. [PDF]
World J Clin Cases, 2022 BACKGROUND Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary disorder. It is associated with mutations in the arginine vasopressin receptor 2 (AVPR2) gene and aquaporin 2 (AQP2) gene, and approximately 270 different mutation sites ...
Yang LL +5 more
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Am J Physiol Renal Physiol, 2021 The renal arginine vasopressin receptor 2 (AVPR2) plays a crucial role in osmoregulation. Engagement of ligand with the AVPR2 results in aquaporin 2 movement to the apical membrane and water reabsorption from the urinary filtrate.
Abraham S +10 more
europepmc +4 more sources
Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus [PDF]
Scientific Reports, 2021 X-linked nephrogenic diabetes insipidus (X-linked NDI) is a rare inherited disease mainly caused by lost-of-function mutations in human AVPR2 gene encoding arginine vasopressin receptor 2 (V2R).
Lixia Wang +7 more
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Case Report: A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr273Met Mutation in Arginine Vasopressin Receptor 2 [PDF]
Frontiers in Pediatrics, 2021 Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary tubular dysfunction caused mainly by X-linked recessive inheritance of AVPR2 gene mutations.
Li Huang +9 more
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A novel deletion mutation of the arginine vasopressin receptor 2 gene in a Japanese infant with nephrogenic diabetes insipidus. [PDF]
Clin Pediatr Endocrinol, 2014 Arginine vasopressin (AVP) is released from the posterior pituitary. It controls water balance homeostasis. It binds to arginine vasopressin receptor 2 (AVPR2) on the basolateral membrane of the kidney collecting duct and triggers activation of Gs ...
Daitsu T, Igaki J, Goto M, Hasegawa Y.
europepmc +4 more sources
Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V). [PDF]
PLoS ONE, 2013 Arginine vasopressin (AVP) is released from the posterior pituitary and controls water homeostasis. AVP binding to vasopressin V2 receptors (V2Rs) located on kidney collecting duct epithelial cells triggers activation of Gs proteins, leading to increased
Stephen P Armstrong +4 more
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Comparative quantitation of aquaporin-2 and arginine vasopressin receptor-2 localizations among chronic kidney disease and healthy kidney in dogs [PDF]
Veterinary World, 2021 Background and Aim: Aquaporin-2 (AQP2) and arginine vasopressin receptor-2 (AVPR2) are proteins that control water homeostasis in principal cells. Chronic kidney disease (CKD) is defined as the impairment and irreversible loss of kidney function and/or ...
Pitchaya Matchimakul +3 more
doaj +3 more sources
Arginine vasopressin receptor 2 activation promotes microvascular permeability in sepsis. [PDF]
Pharmacol Res, 2021 Lopez E +11 more
europepmc +4 more sources