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Page 1
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 …
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 …
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG. Bichet DG. Eur J Endocrinol. 2020 Aug;183(2):R29-R40. doi: 10.1530/EJE-20-0114. Eur J Endocrinol. 2020. PMID: 32580146 Review.
For a geneticist, hereditary NDI is a rare disease with a prevalence of five per million males secondary to loss of function of the vasopressin V2 receptor, an X-linked gene, or loss of function of the water channel AQP2. ...A number of patients are still dia …
For a geneticist, hereditary NDI is a rare disease with a prevalence of five per million males secondary to loss of function of the vasop …
A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.
Zang L, Gong Y, Li Y, Dou J, Lyu Z, Su X, Zhang Y, Mu Y. Zang L, et al. Biomed Res Int. 2022 Jul 12;2022:7073158. doi: 10.1155/2022/7073158. eCollection 2022. Biomed Res Int. 2022. Retraction in: Biomed Res Int. 2024 Mar 20;2024:9753837. doi: 10.1155/2024/9753837. PMID: 35865667 Free PMC article. Retracted.
Genetic testing of mutations in the coding region of the aquaporin 2 (AQP2) gene and the arginine vasopressin receptor 2 (AVPR2) gene were carried out in 11 family members. Somatic DNA from 5 female family members was used to test for methylatio …
Genetic testing of mutations in the coding region of the aquaporin 2 (AQP2) gene and the arginine vasopressin receptor …
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C, Higgins PJ, Zhang W. Gao C, et al. Cells. 2020 Sep 26;9(10):2172. doi: 10.3390/cells9102172. Cells. 2020. PMID: 32993088 Free PMC article. Review.
The capacity to accumulate AQP2 in the apical plasma membrane in response to decreased fluid volume or increased plasma osmolality is critically regulated by the antidiuretic hormone AVP and its receptor 2 (AVPR2). Mutations in AVPR2 result in X-linked recessive NDI …
The capacity to accumulate AQP2 in the apical plasma membrane in response to decreased fluid volume or increased plasma osmolality is critic …
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 …
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 …
31 results