ReviewNature reviews. Nephrology2009
Inherited cerebrorenal syndromes.
Review in Nature reviews. Nephrology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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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
22 citing papers in PubMed, 45 citations in OpenAlex.
- Article
- The Crystalline Nephropathies.Kidney international reports · 2021Review
- Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.European journal of ophthalmology · 2020Article
- Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.Journal of neurodevelopmental disorders · 2020Article
- A Ciliary View of the Immunological Synapse.Cells · 2019Review
- Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.Molecular autism · 2018Article
- Digenic mutations of humanHuman genome variation · 2016Article
- Flow stimulated endocytosis in the proximal tubule.Current opinion in nephrology and hypertension · 2015Review
- Shear stress-dependent regulation of apical endocytosis in renal proximal tubule cells mediated by primary cilia.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- The cellular and physiological functions of the Lowe syndrome protein OCRL1.Traffic (Copenhagen, Denmark) · 2014Review
- Joubert syndrome: congenital cerebellar ataxia with the molar tooth.The Lancet. Neurology · 2013Review
- Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.PloS one · 2013Article
- Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish.Vision research · 2012Article
- Lowe syndrome: Between primary cilia assembly and Rac1-mediated membrane remodeling.Communicative & integrative biology · 2012Article
- OCRL1 modulates cilia length in renal epithelial cells.Traffic (Copenhagen, Denmark) · 2012Article
- OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.Human molecular genetics · 2012Article
- Craniovertebral junction abnormality in a case of Joubert syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Article
- Recognition of the F&H motif by the Lowe syndrome protein OCRL.Nature structural & molecular biology · 2011Article
- The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.Molecular biology of the cell · 2011Article
- Phosphatidylinositol-4-phosphate 5-kinases and phosphatidylinositol 4,5-bisphosphate synthesis in the brain.The Journal of biological chemistry · 2010Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abnormalities in the central nervous system and renal function are seen together in a variety of congenital syndromes. This Review examines the clinical presentation and the genetic basis of several such syndromes. The X-linked oculocerebrorenal syndrome of Lowe is characterized by developmental delay, blindness, renal tubular dysfunction, and progressive renal failure. This syndrome results from mutations in the OCRL gene, which encodes a phosphatase involved in endosomal trafficking. Mutations in OCRL also occur in Dent disease, which has a milder disease phenotype than Lowe syndrome. Patients with Joubert syndrome have cerebellar ataxia, pigmentary retinopathy, and nephronophthisis. Joubert syndrome is a genetically heterogeneous condition associated with mutations in at least five genes that encode ciliary proteins. Bardet-Biedl syndrome is a clinically variable condition associated with learning disabilities, progressive visual loss, obesity, polydactyly, hypogonadism, and cystic and fibrotic renal changes that can lead to renal failure. Most of the 12 genes mutated in Bardet-Biedl syndrome are also involved in ciliary function, as are the genes implicated in other 'ciliopathies' with similar phenotypes, including Meckel syndrome.
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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.