ReviewNephrology (Carlton, Vic.)2018
Nephronophthisis: A review of genotype-phenotype correlation.
Review in Nephrology (Carlton, Vic.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Systematic review of outcomes reported in clinical research on nephronophthisis: how do they align with SONG Kids priorities?Pediatric nephrology (Berlin, Germany) · 2026Pooled it
- A Rare Genetic Association of anJournal of medical cases · 2026Article
- A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.CEN case reports · 2026Article
- Renal Tubule-Specific Deletion of Nephrocystin 3International journal of molecular sciences · 2026Article
- From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation.Clinical nephrology. Case studies · 2026Article
- Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.Renal failure · 2025Article
- Advances in Imaging Techniques for Mammalian/Human Ciliated Cell's Cilia: Insights into Structure, Function, and Dynamics.Biology · 2025Review
- INVS Mutation-Related NPHP2 Nephronophthisis With Glomerulocystic Disease: A Case Report.Kidney medicine · 2025Article
- Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies.Kidney international reports · 2025Article
- Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.Pediatric nephrology (Berlin, Germany) · 2024Article
- Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review.BMC pediatrics · 2024Review
- Case report of a child with nephronophthisis from South Africa.BMC pediatrics · 2024Article
- Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4.Journal of clinical laboratory analysis · 2024Article
- Genetic and radiological aspects of pediatric renal cystic disease: A case seriesBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Ocular manifestations of renal ciliopathies.Pediatric nephrology (Berlin, Germany) · 2024Review
- Article
- Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.Molecular genetics & genomic medicine · 2024Review
- Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies.Nature reviews. Nephrology · 2024Review
- [C/EBPβ mediates expressions of downstream inflammatory factors of the tumor necrosis factor-Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2024Article
- Patient-derived and gene-edited pluripotent stem cells lackingFrontiers in cell and developmental biology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end-stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%-20% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed.
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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.