ArticleInternational journal of nephrology2011
Nephronophthisis: a genetically diverse ciliopathy.
Article in International journal of nephrology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 54 citations in OpenAlex.
- Detection of the NPHP4 c.2999_3005del (p.Asn1000SerfsTer4) variant in an Iranian family with nephronophthisis-4.Molecular genetics and genomics : MGG · 2026Article
- A novelJournal of neuromuscular diseases · 2026Article
- Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant.Genetics and molecular biology · 2026Article
- 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
- Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review.Children (Basel, Switzerland) · 2024Article
- Article
- Primary cilia and actin regulatory pathways in renal ciliopathies.Frontiers in nephrology · 2023Review
- Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management.International journal of nephrology and renovascular disease · 2023Review
- PCP Protein Inversin Regulates Testis Function Through Changes in Cytoskeletal Organization of Actin and Microtubules.Endocrinology · 2022Article
- Bex1 is essential for ciliogenesis and harbours biomolecular condensate-forming capacity.BMC biology · 2022Article
- Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.Genes · 2021Review
- Paraneoplastic focal segmental glomerulosclerosis associated with gastrointestinal stromal tumor with cutaneous metastasis: A case report.World journal of clinical cases · 2021Article
- Bilateral primary renal diffuse large B-cell lymphoma: a rare presentation of paediatric renal disease mimicking juvenile nephronophthisis.BMJ case reports · 2020Article
- Metabolic perturbations caused by depletion of nephronophthisis factor Anks6 in mIMCD3 cells.Metabolomics : Official journal of the Metabolomic Society · 2019Article
- Review
- Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate.Scientific reports · 2018Article
- A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.American journal of human genetics · 2018Article
- A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.Human molecular genetics · 2017Article
- Juvenile nephronophthisis and dysthyroidism: a rare association.CEN case reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts. Importantly, NPHP is associated with extra renal manifestations in 10-15% of patients. The most frequent extrarenal association is retinal degeneration, leading to blindness. Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. In this paper, we discuss the latest understanding in the molecular and cellular pathogenesis of NPHP. We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families.
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.