ArticleEndocrine2012
Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
Article in Endocrine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in theInternational journal of molecular sciences · 2025Article
- Investigation of Fibrillar Aggregates Formed by Pathogenic Pre-pro-vasopressin Mutants that Cause ADNDI.The Journal of clinical endocrinology and metabolism · 2025Article
- A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.International medical case reports journal · 2025Article
- Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.Molecular genetics & genomic medicine · 2024Article
- 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.BioMed research international · 2022Article
- Functional analyses of three different mutations in the AVP-NPII gene causing familial neurohypophyseal diabetes insipidus.Endocrine · 2021Article
- Review
- Review
- Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.Cellular and molecular life sciences : CMLS · 2020Article
- Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.Endocrine connections · 2018Article
- Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.Nature reviews. Nephrology · 2015Review
- Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.European journal of pediatrics · 2015Article
- A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.Endocrine · 2014Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to identify mutations in three different genes, the arginine-vasopressin-neurophysin II (AVP-NPII) gene, the arginine-vasopressin receptor 2 (AVPR2) gene, and the vasopressin-sensitive water channel aquaporin-2 (AQP2) gene in Turkish patients affected by central diabetes insipidus or nephrogenic diabetes insipidus. This study included 15 patients from unrelated families. Prospective clinical data were collected for all patients including the patients underwent a water deprivation-desmopressin test. The coding regions of the AVPR2, AQP2, and AVP-NPII genes were amplified by polymerase chain reaction and submitted to direct sequence analysis. Of the 15 patients with diabetes insipidus referred to Gulhane Military Medical Academy, Department of Endocrinology and Metabolism, eight patients have AVPR2 mutations, five patients have AQP2 mutations and two patients have AVP-NPII mutations. Of the patients, which have AVPR2 mutations, one is compound heterozygous for AVPR2 gene. Seven of these mutations are novel. Comparison of the clinical outcomes of these mutations may facilitate in understanding the functions of AVP-NPII, AQP2, and AVPR2 genes in future studies.
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