ReviewJournal of genetics2009
RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
Review in Journal of genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 31 citations in OpenAlex.
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- Identification of circular RNAs hosted by theRNA biology · 2023Article
- The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.International journal of molecular sciences · 2022Article
- A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.NPJ genomic medicine · 2022Article
- Structure and dynamics of photoreceptor sensory cilia.Pflugers Archiv : European journal of physiology · 2021Review
- Insights into photoreceptor ciliogenesis revealed by animal models.Progress in retinal and eye research · 2019Review
- Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.Experimental eye research · 2018Article
- Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Experimental eye research · 2016Review
- Advances in gene therapy technologies to treat retinitis pigmentosa.Clinical ophthalmology (Auckland, N.Z.) · 2014Review
- Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.International journal of ophthalmology · 2014Article
- Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Vision research · 2012Review
- Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Cilia · 2012Article
- Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye.International Journal of Ophthalmic Pathology · 2012Article
- Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.Human mutation · 2011Article
- Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.The Journal of biological chemistry · 2011Article
- Ciliopathies: an expanding disease spectrum.Pediatric nephrology (Berlin, Germany) · 2011Review
- Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.Human molecular genetics · 2011Article
- Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.Human molecular genetics · 2010Article
- Cilia in cell signaling and human disorders.Protein & cell · 2010Review
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 2 institutions in 1 country.
Funding
Abstract
Dysfunction of primary cilia due to mutations in cilia-centrosomal proteins is associated with pleiotropic disorders. The primary (or sensory) cilium of photoreceptors mediates polarized trafficking of proteins for efficient phototransduction. Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein mutated in >70% of X-linked RP cases and 10%-20% of simplex RP males. Accumulating evidence indicates that RPGR may facilitate the orchestration of multiple ciliary protein complexes. Disruption of these complexes due to mutations in component proteins is an underlying cause of associated photoreceptor degeneration. Here, we highlight the recent developments in understanding the mechanism of cilia-dependent photoreceptor degeneration due to mutations in RPGR and PGR-interacting proteins in severe genetic diseases, including retinitis pigmentosa, Leber congenital amaurosis (LCA), Joubert syndrome, and Senior-Loken syndrome, and explore the physiological relevance of photoreceptor ciliary protein complexes.
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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.