ArticleThe Journal of clinical investigation1993
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.
Article in The Journal of clinical investigation, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 151 citations in OpenAlex.
- A clinical and experimental investigation of liraglutide effects on the brain-kidney axis.Science advances · 2026Article
- V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology.Frontiers in endocrinology · 2023Review
- Elucidating Solution Structures of Cyclic Peptides Using Molecular Dynamics Simulations.Chemical reviews · 2021Review
- Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.European journal of pediatrics · 2018Article
- Roflumilast and aquaporin-2 regulation in rat renal inner medullary collecting duct.Physiological reports · 2017Article
- The Trafficking of the Water Channel Aquaporin-2 in Renal Principal Cells-a Potential Target for Pharmacological Intervention in Cardiovascular Diseases.Frontiers in pharmacology · 2016Review
- Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.Nature reviews. Nephrology · 2015Review
- Oxytocin and vasopressin: linking pituitary neuropeptides and their receptors to social neurocircuits.Frontiers in neuroscience · 2015Review
- 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
- Functional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level.Physiological genomics · 2013Article
- Renal tubular disorders.Clinical medicine (London, England) · 2012Article
- V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.The Journal of biological chemistry · 2012Article
- A case of nephrogenic diabetes insipidus with a novel missense mutation in the AVPR2 gene.Pediatric nephrology (Berlin, Germany) · 2007Article
- Nephrogenic syndrome of inappropriate antidiuresis.The New England journal of medicine · 2005Article
- Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus.Endocrine · 2004Article
- Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.The Journal of cell biology · 2003Article
- Thioacylation is required for targeting G-protein subunit G(o1alpha) to detergent-insoluble caveolin-containing membrane domains.The Biochemical journal · 2001Article
- Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus.Archives of disease in childhood · 1999Article
- Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride.Archives of disease in childhood · 1999Article
- An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.The Journal of clinical investigation · 1998Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations in the V2 receptor gene that maps to chromosome region Xq28. In 1969, Bode and Crawford suggested that most NDI patients in North America shared common ancestors of Ulster Scot immigrants who arrived in Halifax in 1761 on the ship Hopewell. A link between this family and a large Utah kindred was also suggested. DNA was obtained from 17 affected male patients from the "Hopewell" kindred and from four additional families from Nova Scotia and New Brunswick who shared the same Xq28 NDI haplotype. The Utah kindred and two families (Q2, Q3) from Quebec were also studied. The "Hopewell" mutation, W71X, is a single base substitution (G-->A) that changes codon 71 from TGG (tryptophan) to TGA (stop). The W71X mutation was found in affected members of the Hopewell and of the four satellite families. The W71X mutation is the cause of X-linked NDI for the largest number of related male patients living in North America. Other families (Utah, Q2 and Q3) that are historically and ethnically unrelated bear other mutations in the V2 receptor gene.
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