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Genetic basis of nephrogenic diabetes insipidus.
Hureaux M, Vargas-Poussou R. Hureaux M, et al. Mol Cell Endocrinol. 2023 Jan 15;560:111825. doi: 10.1016/j.mce.2022.111825. Epub 2022 Nov 30. Mol Cell Endocrinol. 2023. PMID: 36460218 Review.
Hereditary forms are caused by molecular defects in the genes encoding either of the two main renal effectors of the arginine vasopressin pathway: the AVPR2 gene, which encodes for the type 2 vasopressin receptor, or the AQP2 gene, which encodes for the water channel aquap …
Hereditary forms are caused by molecular defects in the genes encoding either of the two main renal effectors of the arginine vasopressin pa …
Updates and Perspectives on Aquaporin-2 and Water Balance Disorders.
Noda Y, Sasaki S. Noda Y, et al. Int J Mol Sci. 2021 Nov 30;22(23):12950. doi: 10.3390/ijms222312950. Int J Mol Sci. 2021. PMID: 34884753 Free PMC article. Review.
Antidiuretic hormone vasopressin is an upstream regulator of AQP2. Its binding to the vasopressin V2 receptor promotes AQP2 targeting to the apical membrane and thus enables water reabsorption. Tolvaptan, a vasopressin V2 receptor antagon …
Antidiuretic hormone vasopressin is an upstream regulator of AQP2. Its binding to the vasopressin V2 receptor promotes …
Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.
Manoel D, Mohammed I, Hussain K, Saraiva LR. Manoel D, et al. Am J Physiol Endocrinol Metab. 2025 Nov 1;329(5):E764-E773. doi: 10.1152/ajpendo.00325.2025. Epub 2025 Oct 10. Am J Physiol Endocrinol Metab. 2025. PMID: 41071673 Free article.
Vasopressin plays a central endocrine role in water homeostasis by activating the arginine vasopressin receptor 2 (AVPR2) receptor in renal collecting duct cells. Mutations in AVPR2 are a leading cause of X-linked nephrogenic diabetes ins …
Vasopressin plays a central endocrine role in water homeostasis by activating the arginine vasopressin receptor 2 …
AVPR2 is a potential prognostic biomarker and correlated with immune infiltration in head and neck squamous cell carcinoma.
Mao L, Pan Z, Chen W, Hu W, Chen X, Dai H. Mao L, et al. BMC Med Genomics. 2023 Mar 30;16(1):67. doi: 10.1186/s12920-023-01500-3. BMC Med Genomics. 2023. PMID: 36998036 Free PMC article.
Future studies are needed to explore the role of AVPR2 and tumour-infiltrating B cells in HNSCC. CONCLUSIONS: The AVPR2 gene may be a prognostic biomarker of HNSCC. Moreover, AVPR2 may play a role in HNSCC immune modulation, and the regulation of tumour-infil …
Future studies are needed to explore the role of AVPR2 and tumour-infiltrating B cells in HNSCC. CONCLUSIONS: The AVPR2 gene m …
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Carcavilla A, Pereda A, Miyado M, Fukami M, Kato F, Sengoku T, Ogata K, Clemente M, Valenzuela I, Mantovani G, Cappa M, Cavarzere P, Vado Y, González-Casado I, Ogata T, Perez de Nanclares G. Carcavilla A, et al. Eur J Endocrinol. 2025 Mar 27;192(4):364-372. doi: 10.1093/ejendo/lvaf006. Eur J Endocrinol. 2025. PMID: 40172207
The baseline luciferase studies in the arginine vasopressin receptor 2 (AVPR2)-AVP system revealed mildly but significantly higher activity for p....Protein structural analyses suggest that the 3 variants could have distinct effects on the inter …
The baseline luciferase studies in the arginine vasopressin receptor 2 (AVPR2)-AVP system revealed mildly …
Galphas and Galphaq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.
Erdem Tuncdemir B. Erdem Tuncdemir B. J Recept Signal Transduct Res. 2022 Dec;42(6):573-579. doi: 10.1080/10799893.2022.2102651. Epub 2022 Jul 28. J Recept Signal Transduct Res. 2022. PMID: 35901021
Loss-of-function mutations of the arginine vasopressin receptor 2 gene (AVPR2) cause Nephrogenic diabetes insipidus (NDI). AVPR2 is a kind of G protein coupled receptor (GPCR) and mainly couples with Galphas protein leading to cAMP accumu …
Loss-of-function mutations of the arginine vasopressin receptor 2 gene (AVPR2) cause Nephrogenic diabetes …
GLP-1 receptor agonists in ADPKD: from metabolic rationale to phenotype-enriched translational testing.
Corrêa LMA, Brandão LKV, Delmiro Silva YR, Ferreira GD, Mazur GR, Arruda SLP. Corrêa LMA, et al. Transl Res. 2026 Sep;295:148-154. doi: 10.1016/j.trsl.2026.07.001. Epub 2026 Jul 12. Transl Res. 2026. PMID: 42398811 Free article. Review.
Autosomal dominant polycystic kidney disease (ADPKD) remains therapeutically anchored to vasopressin V2-receptor antagonism, yet progression heterogeneity and persistent unmet need increasingly suggest residual disease biology beyond cAMP-centered control. .. …
Autosomal dominant polycystic kidney disease (ADPKD) remains therapeutically anchored to vasopressin V2-receptor antago …
A novel AVPR2 gene mutation in a Chinese pedigree with nephrogenic diabetes insipidus.
Zhao Y, Li K, Chen C, Lv X, Wang Y, Ma L, Fu S, Liu J. Zhao Y, et al. Postgrad Med. 2024 Aug;136(6):683-690. doi: 10.1080/00325481.2024.2383555. Epub 2024 Jul 23. Postgrad Med. 2024. PMID: 39041787
Nephrogenic diabetes insipidus (NDI) is a rare genetic disorder primarily associated with mutations in the arginine vasopressin receptor 2 (AVPR2) gene or the aquaporin 2 (AQP2) gene, resulting in impaired water reabsorption in the renal tubules …
Nephrogenic diabetes insipidus (NDI) is a rare genetic disorder primarily associated with mutations in the arginine vasopressin …
Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the AQP2 Gene.
Padilla-Guzmán A, Ochoa-Jiménez VA, Forero-Delgadillo JM, Apraez-Murillo K, Pachajoa H, Restrepo JM. Padilla-Guzmán A, et al. Int J Mol Sci. 2025 Aug 1;26(15):7415. doi: 10.3390/ijms26157415. Int J Mol Sci. 2025. PMID: 40806548 Free PMC article.
Approximately 90% of NDI cases follow an X-linked inheritance pattern and are associated with pathogenic variants in the AVPR2 gene, which encodes the vasopressin receptor type 2. The remaining 10% are attributed to mutations in the AQP2 gene, which encodes aquaporin-2, an …
Approximately 90% of NDI cases follow an X-linked inheritance pattern and are associated with pathogenic variants in the AVPR2 gene, …
Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.
Li Q, Tian D, Cen J, Duan L, Xia W. Li Q, et al. J Endocrinol Invest. 2021 Dec;44(12):2777-2783. doi: 10.1007/s40618-021-01607-3. Epub 2021 Jun 8. J Endocrinol Invest. 2021. PMID: 34101133
AIMS: To investigate genotype and phenotype of congenital nephrogenic diabetes insipidus caused by AVPR2 mutations, which is rare and limitedly studied in Chinese population. METHODS: 88 subjects from 28 families with NDI in a department (Beijing, PUMCH) were screened for …
AIMS: To investigate genotype and phenotype of congenital nephrogenic diabetes insipidus caused by AVPR2 mutations, which is rare and …
31 results