ArticleJournal of the American Society of Nephrology : JASN2018
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Article in Journal of the American Society of Nephrology : JASN, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 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
63 citing papers in PubMed, 109 citations in OpenAlex.
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Whole exome sequencing identifies three novel variants and establishes the molecular diagnosis of ATP6V0A4-related distal renal tubular acidosis in a lebanese infant.Molecular biology reports · 2026Article
- Molecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Observational
- Hmx2 and Dmrt2 Coordinate the Differentiation of Intercalated Cell Subtypes in Kidney.Journal of the American Society of Nephrology : JASN · 2026Article
- The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.EBioMedicine · 2026Article
- Article
- XLH Matters 2024 GCC Edition: Insights and Recommendations to Improve Outcomes for People Living With XLH in the Gulf Region.Clinical medicine insights. Endocrinology and diabetes · 2026Article
- Kidney stone disease: risk factors, pathophysiology and management.Nature reviews. Nephrology · 2025Review
- Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.Molecular medicine (Cambridge, Mass.) · 2025Article
- Distal renal tubular acidosis and WDR72: some answers, more questions.Pediatric nephrology (Berlin, Germany) · 2025Article
- Recent Developments in the Treatment of Pediatric Distal Renal Tubular Acidosis.Paediatric drugs · 2024Review
- Primary Distal Renal Tubular Acidosis: Toward an Optimal Correction of Metabolic Acidosis.Clinical journal of the American Society of Nephrology : CJASN · 2024Review
- The evolving landscape of monogenic nephrolithiasis and therapeutic innovations.Nature reviews. Urology · 2024Review
- Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.Neuroradiology · 2024Article
- Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.Bone reports · 2024Article
- Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.Biochemical genetics · 2024Article
- Genetic susceptibility of urolithiasis: comprehensive results from genome-wide analysis.World journal of urology · 2024Article
- State of knowledge on ammonia handling by the kidney.Pflugers Archiv : European journal of physiology · 2024Review
- Monogenic features of urolithiasis: A comprehensive review.Asian journal of urology · 2024Review
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 8 institutions in 4 countries.
Funding
Abstract
Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription factor FOXI1. In two unrelated consanguineous families, we identified three patients with novel homozygous missense mutations in
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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.