ArticleJournal of the American Society of Nephrology : JASN2019
Germline-Derived Gain-of-Function Variants of Gs
Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 38 citations in OpenAlex.
- Nephrogenic Syndrome of Inappropriate Antidiuresis: Case Report and Genetic Perspectives.Nephrology (Carlton, Vic.) · 2026Article
- Spuriously Elevated Free Thyroxine Due to Fibrin Interference in a Patient Receiving Apixaban: A Case Report and Literature Review.Internal medicine (Tokyo, Japan) · 2026Review
- De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.Journal of human genetics · 2026Article
- A novel OPHN1 variant associated with cyclic strabismus but in the absence of OPHN1 syndrome.Scientific reports · 2026Article
- Familial hyponatremia conditioned by the R137C mutation with constitutive activation of the vasopressin receptor.Journal of applied genetics · 2025Article
- Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.Clinical epigenetics · 2024Article
- Article
- Intractable hyponatremia complicated by a reset osmostat: a case report.Journal of medical case reports · 2023Article
- V2 vasopressin receptor mutations: future personalized therapy based on individual molecular biology.Frontiers in endocrinology · 2023Review
- Differential diagnosis between syndrome of inappropriate antidiuretic hormone secretion and cerebral/renal salt wasting syndrome in children over 1 year: proposal for a simple algorithm.Pediatric nephrology (Berlin, Germany) · 2022Review
- A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.Orphanet journal of rare diseases · 2022Article
- ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.Clinical epigenetics · 2021Article
- Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.Clinical epigenetics · 2021Article
- Modulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling.Cellular signalling · 2020Review
- Article
- GNAS: A New Nephrogenic Cause of Inappropriate Antidiuresis.Journal of the American Society of Nephrology : JASN · 2019Article
Corrections and comments
- Commented on by
Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe stimulatory G-protein
methodsWe performed whole-exome sequencing in two families with dominantly inherited nephrogenic syndrome of inappropriate antidiuresis (NSIAD) as a salient phenotype after excluding a gain-of-function variant of
resultsWhole-exome sequencing revealed two
conclusionsThis study shows that germline-derived gain-of-function rare variants of
Indexed as
Identifiers
What 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.