ArticleMolecular and cellular pediatrics2015
Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function.
Article in Molecular and cellular pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Prenatal Diagnosis of Short Rib-Polydactyly Syndrome (SRPS),Clinical case reports · 2026Article
- Vinblastine Resistance Is Associated with Nephronophthisis 3-Mediated Primary Cilia via Intraflagellar Transport Protein 88 and Apoptosis-Antagonizing Transcription Factor.International journal of molecular sciences · 2024Article
- Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa.Pediatric nephrology (Berlin, Germany) · 2024Review
- HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1α Activation under Serum-Deprived Normoxic Condition.International journal of molecular sciences · 2022Article
- Cytopenia in autosomal dominant polycystic kidney disease (ADPKD): merely an association or a disease-related feature with prognostic implications?Pediatric nephrology (Berlin, Germany) · 2021Review
- Metabolic Changes in Polycystic Kidney Disease as a Potential Target for Systemic Treatment.International journal of molecular sciences · 2020Review
- Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases.Pediatric nephrology (Berlin, Germany) · 2020Article
- Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please.Frontiers in cell and developmental biology · 2020Review
- Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells.Scientific reports · 2019Article
- Hedgehog Signal and Genetic Disorders.Frontiers in genetics · 2019Review
- Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease.Histochemistry and cell biology · 2018Review
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.BMC nephrology · 2018Article
- Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mechanistic targets for (R)-roscovitine and (S)-CR8.American journal of physiology. Renal physiology · 2018Article
- Sensing the cilium, digital capture of ciliary data for comparative genomics investigations.Cilia · 2018Article
- Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.Nature cell biology · 2017Article
- Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.Nature genetics · 2017Article
- Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.Pediatric nephrology (Berlin, Germany) · 2017Article
- Mechanisms for nonmitotic activation of Aurora-A at cilia.Biochemical Society transactions · 2017Review
- The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Nature reviews. Nephrology · 2016Review
Corrections and comments
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Authors and funding
2 authors.
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Abstract
backgroundPrimary cilia are membrane-bound microtubule-based protuberances of the cell membrane projecting to the extracellular environment. While little attention was paid to this subcellular structure over a long time, recent research has highlighted multiple cellular functions of primary cilia and has brought cilia to the focus of medical and cell biological research.
findingsCilia are nowadays considered to be crucial cellular structures controlling diverse intracellular signaling cascades. Dysfunction of cilia leads to a pleiotropic group of diseases ranging from cystic kidney disease via neurologic disorders to metabolic phenotypes and cardiac malformations. According to the underlying cellular pathophysiology, these diverse disorders have been subsumed under the term "ciliopathies".
conclusionsThe work on rare human ciliopathies has strongly deepened our genetic and cell biological understanding of multiple diseases and cellular events thus ultimately leading to clinical trials of novel therapeutic approaches. This review focuses on some of the important developments in ciliopathy research.
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