| scholarly article | Q13442814 |
| P50 | author | Hemant Khanna | Q83233957 |
| P2093 | author name string | Manisha Anand | |
| P2860 | cites work | The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase | Q22001446 |
| The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly | Q24293516 | ||
| RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin | Q24298139 | ||
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways | Q24302034 | ||
| Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species | Q24302112 | ||
| UNC119 is required for G protein trafficking in sensory neurons | Q24305723 | ||
| A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Q24309499 | ||
| CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium | Q24310530 | ||
| A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis | Q24311615 | ||
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 | Q24336477 | ||
| Cep97 and CP110 suppress a cilia assembly program | Q24338361 | ||
| Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome | Q24338514 | ||
| Null RPGRIP1 alleles in patients with Leber congenital amaurosis | Q24533477 | ||
| RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins | Q24533513 | ||
| CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease | Q24568058 | ||
| A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa | Q24612935 | ||
| Characterization of mouse IFT complex B | Q24646024 | ||
| In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse | Q24671808 | ||
| A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3) | Q24676561 | ||
| Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis | Q24678616 | ||
| Intraflagellar transport: the eyes have it | Q24682770 | ||
| The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller | Q27748937 | ||
| Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8. | Q27919719 | ||
| Syntaxin 3 and SNAP-25 pairing, regulated by omega-3 docosahexaenoic acid, controls the delivery of rhodopsin for the biogenesis of cilia-derived sensory organelles, the rod outer segments | Q27967650 | ||
| Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? | Q27967655 | ||
| MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis | Q28000044 | ||
| A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition | Q28000057 | ||
| Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). | Q28114957 | ||
| RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa | Q28139362 | ||
| The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors | Q28144488 | ||
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome | Q28239026 | ||
| Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr) | Q28277493 | ||
| A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) | Q28282762 | ||
| Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration | Q28287923 | ||
| Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 | Q28290670 | ||
| Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney | Q28577596 | ||
| Massive light-driven translocation of transducin between the two major compartments of rod cells: a novel mechanism of light adaptation | Q28577839 | ||
| The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors | Q28585678 | ||
| The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis | Q28586876 | ||
| The vertebrate primary cilium in development, homeostasis, and disease | Q29614609 | ||
| Ciliopathies | Q29614821 | ||
| Proteomic analysis of a eukaryotic cilium | Q29614823 | ||
| The primary cilium as the cell's antenna: signaling at a sensory organelle | Q29615165 | ||
| The primary cilium as a complex signaling center | Q29615254 | ||
| The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia | Q29615741 | ||
| Cyclic nucleotide-gated ion channels | Q29615754 | ||
| Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response | Q29617051 | ||
| The proteome of the mouse photoreceptor sensory cilium complex | Q29619586 | ||
| Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells | Q29620499 | ||
| The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. | Q30499095 | ||
| A proteomic analysis of human cilia: identification of novel components | Q30841923 | ||
| Identification of a novel protein interacting with RPGR. | Q30910751 | ||
| Nephronophthisis: disease mechanisms of a ciliopathy | Q33594278 | ||
| Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods | Q33944067 | ||
| Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families | Q34265929 | ||
| Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells | Q34994553 | ||
| Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome | Q35032831 | ||
| The vertebrate primary cilium is a sensory organelle | Q35041118 | ||
| Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies | Q35150162 | ||
| RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections | Q35443339 | ||
| Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa | Q35751018 | ||
| An overview of Leber congenital amaurosis: a model to understand human retinal development | Q35825163 | ||
| Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments. | Q35829073 | ||
| Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | Q36023714 | ||
| Turnover of rod photoreceptor outer segments. II. Membrane addition and loss in relationship to light | Q36198726 | ||
| Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies | Q36496174 | ||
| Kinetics of rod outer segment renewal in the developing mouse retina | Q36527784 | ||
| Piecing together a ciliome | Q36543698 | ||
| Trafficking of membrane-associated proteins to cone photoreceptor outer segments requires the chromophore 11-cis-retinal | Q36925860 | ||
| Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors | Q37167508 | ||
| Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development | Q37471763 | ||
| Rab GEFs and GAPs | Q37751479 | ||
| Transmembrane assemblage of the photoreceptor connecting cilium and motile cilium transition zone contain a common immunologic epitope | Q38342639 | ||
| Mammalian cones: disc shedding, phagocytosis, and renewal | Q39873893 | ||
| The major cell populations of the mouse retina. | Q40838448 | ||
| Clinical findings and common symptoms in retinitis pigmentosa | Q41278116 | ||
| Rab proteins and post-Golgi trafficking of rhodopsin in photoreceptor cells | Q41732265 | ||
| Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa | Q42631280 | ||
| Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration | Q42675161 | ||
| Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes | Q43231821 | ||
| Ultrastructural changes during degeneration of photoreceptors and pigment epithelium in the Ozark cave salamander | Q44017932 | ||
| Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers | Q44198725 | ||
| Recoverin undergoes light-dependent intracellular translocation in rod photoreceptors | Q46551334 | ||
| Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas | Q46753643 | ||
| Increasing evidence for syndromic phenotypes associated with RPGR mutations | Q47835468 | ||
| RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia | Q47889303 | ||
| RPGR mutation analysis and disease: an update | Q50459877 | ||
| Intraflagellar transport. | Q52123376 | ||
| Turnover of mouse photoreceptor outer segments in constant light and darkness | Q66925393 | ||
| A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities | Q67737740 | ||
| X-linked retinitis pigmentosa. Profile of clinical findings | Q68091227 | ||
| The renewal of diffusely distributed protein in the outer segments of rods and cones | Q69093755 | ||
| Retinitis pigmentosa and the question of photoreceptor connecting cilium defects | Q71919451 | ||
| Passage of newly formed protein through the connecting cilium of retinal rods in the frog | Q72137882 | ||
| Human cilia proteome contains homolog of zebrafish polycystic kidney disease gene qilin | Q80972374 | ||
| Arrestin translocation is induced at a critical threshold of visual signaling and is superstoichiometric to bleached rhodopsin | Q82372903 | ||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | photoreceptor protein | Q7187894 |
| P304 | page(s) | 541-551 | |
| P577 | publication date | 2012-05-07 | |
| P1433 | published in | Expert Opinion on Therapeutic Targets | Q5421214 |
| P1476 | title | Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases | |
| P478 | volume | 16 |
| Q92987560 | ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder |
| Q53826878 | ARL2BP, a protein linked to Retinitis Pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure. |
| Q28263322 | Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition |
| Q28292199 | Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration |
| Q37047492 | Ciliary signaling cascades in photoreceptors |
| Q42495096 | Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation |
| Q37336144 | Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. |
| Q40134387 | Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis |
| Q37136391 | Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. |
| Q38915580 | Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations |
| Q34193510 | Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse |
| Q36676811 | Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina |
| Q26778955 | Photoreceptor Sensory Cilium: Traversing the Ciliary Gate |
| Q45864431 | Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. |
| Q91966626 | Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia |
| Q42370401 | Stem cells with a view: a look inside a retinal ciliopathy |
| Q38879791 | Structural and molecular bases of rod photoreceptor morphogenesis and disease. |
| Q64071564 | Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina |
| Q37488595 | Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye. |
| Q36961405 | The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo |
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