ReviewJournal of the American Society of Nephrology : JASN2009
Nephronophthisis: disease mechanisms of a ciliopathy.
Review in Journal of the American Society of Nephrology : JASN, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 189 papers.
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Who cites it
189 citing papers in PubMed, 370 citations in OpenAlex.
- Hepatic manifestations of ciliopathies: genetic causes and clinical update.European journal of pediatrics · 2026Review
- Modeling Complex Developmental Disease: The Case of Polycystic Kidney Disease.Journal of developmental biology · 2026Review
- A Rare Genetic Association of anJournal of medical cases · 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
- The interplay between the cardiovascular system and pediatric congenital or acquired kidney diseases.Pediatric nephrology (Berlin, Germany) · 2025Review
- Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.Journal of medical case reports · 2025Article
- iPSC-based drug discovery identified the Hippo signaling pathway as a therapeutic target in the fibrosis of NPHP1-deficient nephronophthisis.Stem cell research & therapy · 2025Article
- Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman.Journal of medical cases · 2025Article
- Diseases of the primary cilia: a clinical characteristics review.Pediatric nephrology (Berlin, Germany) · 2025Review
- Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.Human molecular genetics · 2025Article
- Identification and bioinformatics analysis of cilia-associated gene families inFrontiers in microbiology · 2025Article
- IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.American journal of ophthalmology · 2024Article
- Case report of a child with nephronophthisis from South Africa.BMC pediatrics · 2024Article
- Extracellular vesicles in kidney development and pediatric kidney diseases.Pediatric nephrology (Berlin, Germany) · 2024Review
- Nephronophthisis: a pathological and genetic perspective.Pediatric nephrology (Berlin, Germany) · 2024Review
- A case report of intrahepatic bile duct dilatation caused byTranslational pediatrics · 2024Article
- Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis.Annals of pediatric endocrinology & metabolism · 2023Article
129 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is based on the finding that all proteins mutated in cystic kidney diseases of humans or animal models are expressed in primary cilia or centrosomes of renal epithelial cells. Primary cilia are sensory organelles that connect mechanosensory, visual, and other stimuli to mechanisms of epithelial cell polarity and cell-cycle control. Mutations in NPHP genes cause defects in signaling mechanisms that involve the noncanonical Wnt signaling pathway and the sonic hedgehog signaling pathway, resulting in defects of planar cell polarity and tissue maintenance. The ciliary theory explains the multiple organ involvement in NPHP, which includes retinal degeneration, cerebellar hypoplasia, liver fibrosis, situs inversus, and mental retardation. Positional cloning of dozens of unknown genes that cause NPHP will elucidate further signaling mechanisms involved. Nephrocystins are highly conserved in evolution, thereby allowing the use of animal models to develop future therapeutic approaches.
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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.