ArticleEuropean journal of human genetics : EJHG2009
Nephronophthisis.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 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
40 citing papers in PubMed, 64 citations in OpenAlex.
- Clinical impact of genetic testing in inherited kidney diseases.Clinical kidney journal · 2026Article
- Whole exome sequencing identified a novel compound heterozygous mutation ofFrontiers in pediatrics · 2026Article
- The interplay between the cardiovascular system and pediatric congenital or acquired kidney diseases.Pediatric nephrology (Berlin, Germany) · 2025Review
- Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy.Journal of cell science · 2025Article
- Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.BMC nephrology · 2025Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1Clinical and translational medicine · 2025Article
- Genetic and radiological aspects of pediatric renal cystic disease: A case seriesBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Diverse retinal-kidney phenotypes associated withJournal of rare diseases (Berlin, Germany) · 2024Article
- Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.Pediatric nephrology (Berlin, Germany) · 2023Article
- Reducing GEF-H1 Expression Inhibits Renal Cyst Formation, Inflammation, and Fibrosis via RhoA Signaling in Nephronophthisis.International journal of molecular sciences · 2023Article
- Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.BMC pediatrics · 2022Article
- Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases.British journal of biomedical science · 2022Review
- Case Report: A Novel In-Frame Deletion ofFrontiers in genetics · 2021Article
- Exploring the Spectrum of Kidney Ciliopathies.Diagnostics (Basel, Switzerland) · 2020Review
- Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric PatientIranian biomedical journal · 2020Article
- Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules.Scientific reports · 2020Article
- Review
- Ciliary Genes in Renal Cystic Diseases.Cells · 2020Review
- Therapeutic perspectives for structural and functional abnormalities of cilia.Cellular and molecular life sciences : CMLS · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure. NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and related disorders) and Senior-Loken syndrome. Recent molecular genetic advances have allowed identification of several genes underlying NPHP. Most of these genes express their protein products, named nephrocystins, in primary cilial/basal body structures. Some nephrocystins are part of adherens junction and focal adhesion kinase protein complexes. This shared localization suggests that common pathogenic mechanisms within the kidney underlie this disease. Functional studies implicate nephrocystins in planar cell polarity pathways, which may be crucial for renal development and maintenance of tubular architecture.
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.