ArticleAmerican journal of human genetics1994
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00004360 (Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus), which is not on this map. Cited by 41 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Who cites it
41 citing papers in PubMed, 152 citations in OpenAlex.
- Novel AVPR2 mutations in congenital nephrogenic diabetes insipidus: clinical characteristics and genetic analysis.Frontiers in pediatrics · 2025Article
- Genetic analysis of nephrogenic diabetes insipidus patients: A study on the Iranian population.Molecular genetics & genomic medicine · 2024Article
- Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.BMC medical genomics · 2024Article
- Exploring the diversity of AVPR2 in Primates and its evolutionary implications.Genetics and molecular biology · 2023Article
- Refractory Massive Ascites: An Unusual Presentation of Nephrogenic Diabetes Insipidus.Kidney international reports · 2022Article
- Article
- Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases.Frontiers in endocrinology · 2022Review
- Functional Rescue of a Nephrogenic Diabetes Insipidus Causing Mutation in the V2 Vasopressin Receptor by Specific Antagonist and Agonist Pharmacochaperones.Frontiers in pharmacology · 2022Article
- Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.European journal of pediatrics · 2018Article
- Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to theCase reports in pediatrics · 2018Article
- Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.European journal of pediatrics · 2015Article
- Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.Nature reviews. Nephrology · 2015Review
- A Rare Case of Congenital Diabetes Insipidus.Frontiers in medicine · 2015Article
- X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy.Balkan journal of medical genetics : BJMG · 2014Article
- Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.Clinical and experimental nephrology · 2013Article
- Article
- Congenital nephrogenic diabetes insipidus: the current state of affairs.Pediatric nephrology (Berlin, Germany) · 2012Review
- Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.Endocrine · 2012Article
- V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.The Journal of biological chemistry · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 4 countries.
Funding
Abstract
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine-vaso-pressin V2 receptor responses due to mutations in the AVPR2 gene in Xq28. We analyzed 31 independent NDI families to determine the nature and recurrence of AVPR2 mutations. Twenty-one new putative disease-causing mutations were identified: 113delCT, 253del35, 255de19, 274insG, V88M, R106C, 402delCT, C112R, Y124X, S126F, W164S, S167L, 684delTA, 804insG, W284X, A285P, W293X, R337X, and three large deletions or gene rearrangements. Five other mutations--R113W, Y128S, R137H, R181C, and R202C--that previously had been reported in other families were detected. There was evidence for recurrent mutation for four mutations (R113W, R137H, S167L, and R337X). Eight de novo mutation events were detected (274insG, R106C, Y128S, 167L [twice], R202C, 684delTA, and R337X). The origins were maternal (one), grandmaternal (one), and grandpaternal (six). In the 31 NDI families and 6 families previously reported by us, there is evidence both for mutation hot spots for nucleotide substitutions and for small deletions and insertions. More than half (58%) of the nucleotide substitutions in 26 families could be a consequence of 5-methyl-cytosine deamination at a CpG dinucleotide. Most of the small deletions and insertions could be attributed to slipped mispairing during DNA replication.
Indexed as
Identifiers
8037205PMC1918376W1539827644What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.