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Search results 1 to 87 out of 87 for Rpgr

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Category: Publication
Type Details Score
Publication      
First Author: Stieger K
Year: 2014
Journal: MGI Direct Data Submission
Title: Direct Data Submission for Rpgr allele
Publication
First Author: Zhao Y
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis.
Volume: 100
Issue: 7
Pages: 3965-70
Publication
First Author: Hong DH
Year: 2005
Journal: Invest Ophthalmol Vis Sci
Title: A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo.
Volume: 46
Issue: 2
Pages: 435-41
Publication
First Author: Zhang X
Year: 2019
Journal: J Cell Physiol
Title: Disease mechanisms and neuroprotection by tauroursodeoxycholic acid in Rpgr knockout mice.
Volume: 234
Issue: 10
Pages: 18801-18812
Publication
First Author: Vervoort R
Year: 2000
Journal: Nat Genet
Title: Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.
Volume: 25
Issue: 4
Pages: 462-6
Publication
First Author: Brunner S
Year: 2008
Journal: Biol Reprod
Title: Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.
Volume: 79
Issue: 4
Pages: 608-17
Publication
First Author: Shu X
Year: 2005
Journal: Hum Mol Genet
Title: RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
Volume: 14
Issue: 9
Pages: 1183-97
Publication
First Author: Brunner S
Year: 2010
Journal: Invest Ophthalmol Vis Sci
Title: Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.
Volume: 51
Issue: 2
Pages: 1106-15
Publication
First Author: Sun X
Year: 2016
Journal: Proc Natl Acad Sci U S A
Title: Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations.
Volume: 113
Issue: 21
Pages: E2925-34
Publication
First Author: Otto EA
Year: 2005
Journal: Nat Genet
Title: Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Volume: 37
Issue: 3
Pages: 282-8
Publication
First Author: Rao KN
Year: 2016
Journal: Hum Mol Genet
Title: Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
Volume: 25
Issue: 20
Pages: 4533-4545
Publication
First Author: Kirschner R
Year: 1999
Journal: Hum Mol Genet
Title: RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
Volume: 8
Issue: 8
Pages: 1571-8
Publication
First Author: Hong DH
Year: 2001
Journal: J Biol Chem
Title: Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.
Volume: 276
Issue: 15
Pages: 12091-9
Publication
First Author: Chang B
Year: 2006
Journal: Hum Mol Genet
Title: 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.
Volume: 15
Issue: 11
Pages: 1847-57
Publication
First Author: Linari M
Year: 1999
Journal: Proc Natl Acad Sci U S A
Title: The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.
Volume: 96
Issue: 4
Pages: 1315-20
Publication
First Author: Thompson DA
Year: 2012
Journal: PLoS One
Title: Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
Volume: 7
Issue: 5
Pages: e35865
Publication
First Author: Hong DH
Year: 2004
Journal: Invest Ophthalmol Vis Sci
Title: Dominant, gain-of-function mutant produced by truncation of RPGR.
Volume: 45
Issue: 1
Pages: 36-41
Publication
First Author: Charng J
Year: 2016
Journal: Hum Mol Genet
Title: Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
Volume: 25
Issue: 24
Pages: 5444-5459
Publication  
First Author: Falasconi A
Year: 2019
Journal: Front Neurosci
Title: Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP.
Volume: 13
Pages: 991
Publication
First Author: Rao KN
Year: 2016
Journal: Biol Open
Title: The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo.
Volume: 5
Issue: 4
Pages: 424-8
Publication
First Author: Yao J
Year: 2011
Journal: Invest Ophthalmol Vis Sci
Title: XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina.
Volume: 52
Issue: 3
Pages: 1567-72
Publication
First Author: Kirschner R
Year: 2001
Journal: Hum Genet
Title: DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
Volume: 109
Issue: 3
Pages: 271-8
Publication
First Author: Wright RN
Year: 2011
Journal: Invest Ophthalmol Vis Sci
Title: Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.
Volume: 52
Issue: 8
Pages: 5189-201
Publication
First Author: Huang WC
Year: 2012
Journal: Invest Ophthalmol Vis Sci
Title: RPGR-associated retinal degeneration in human X-linked RP and a murine model.
Volume: 53
Issue: 9
Pages: 5594-608
Publication
First Author: Wu Z
Year: 2015
Journal: Hum Mol Genet
Title: A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.
Volume: 24
Issue: 14
Pages: 3956-70
Publication  
First Author: Schlegel J
Year: 2019
Journal: Transl Res
Title: Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features.
Volume: 203
Pages: 57-72
Publication
First Author: Zeiss CJ
Year: 2000
Journal: Hum Mol Genet
Title: Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).
Volume: 9
Issue: 4
Pages: 531-7
Publication  
First Author: Murga-Zamalloa CA
Year: 2010
Journal: Mol Vis
Title: Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.
Volume: 16
Pages: 1373-81
Publication  
First Author: Thorson MT
Year: 2023
Journal: Front Mol Neurosci
Title: Nrl:CreERT2 mouse model to induce mosaic gene expression in rod photoreceptors.
Volume: 16
Pages: 1161127
Publication
First Author: Yan D
Year: 1998
Journal: J Biol Chem
Title: Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr).
Volume: 273
Issue: 31
Pages: 19656-63
Publication
First Author: Khanna H
Year: 2005
Journal: J Biol Chem
Title: RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.
Volume: 280
Issue: 39
Pages: 33580-7
Publication
First Author: Megaw R
Year: 2017
Journal: Nat Commun
Title: Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models.
Volume: 8
Issue: 1
Pages: 271
Publication
First Author: Rao KN
Year: 2016
Journal: Hum Mol Genet
Title: Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.
Volume: 25
Issue: 7
Pages: 1345-56
Publication
First Author: Hong DH
Year: 2000
Journal: Proc Natl Acad Sci U S A
Title: A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).
Volume: 97
Issue: 7
Pages: 3649-54
Publication
First Author: Wright RN
Year: 2012
Journal: Invest Ophthalmol Vis Sci
Title: RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.
Volume: 53
Issue: 3
Pages: 1519-29
Publication
First Author: Rao KN
Year: 2016
Journal: Hum Mol Genet
Title: Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.
Volume: 25
Issue: 10
Pages: 2005-2012
Publication
First Author: Dharmat R
Year: 2018
Journal: J Cell Biol
Title: SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
Volume: 217
Issue: 8
Pages: 2851-2865
Publication
First Author: Khanna H
Year: 2009
Journal: Nat Genet
Title: A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Volume: 41
Issue: 6
Pages: 739-45
Publication
First Author: Chang B
Year: 2002
Journal: Vision Res
Title: Retinal degeneration mutants in the mouse.
Volume: 42
Issue: 4
Pages: 517-25
Publication
First Author: Orlans HO
Year: 2019
Journal: Invest Ophthalmol Vis Sci
Title: Filtration of Short-Wavelength Light Provides Therapeutic Benefit in Retinitis Pigmentosa Caused by a Common Rhodopsin Mutation.
Volume: 60
Issue: 7
Pages: 2733-2742
Publication
First Author: Müller B
Year: 2022
Journal: Invest Ophthalmol Vis Sci
Title: Characterization of Double-Strand Break Repair Protein Ku80 Location Within the Murine Retina.
Volume: 63
Issue: 6
Pages: 22
Publication
First Author: Chang B
Year: 2005
Journal: Vis Neurosci
Title: Mouse models of ocular diseases.
Volume: 22
Issue: 5
Pages: 587-93
Publication  
First Author: Won J
Year: 2011
Journal: J Ophthalmol
Title: Mouse model resources for vision research.
Volume: 2011
Pages: 391384
Publication
First Author: Zou J
Year: 2011
Journal: Invest Ophthalmol Vis Sci
Title: Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors.
Volume: 52
Issue: 5
Pages: 2343-51
Publication
First Author: Omori Y
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival.
Volume: 107
Issue: 52
Pages: 22671-6
Publication
First Author: Blewitt ME
Year: 2008
Journal: Nat Genet
Title: SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation.
Volume: 40
Issue: 5
Pages: 663-9
Publication  
First Author: Collin GB
Year: 2020
Journal: Cells
Title: Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Volume: 9
Issue: 4
Publication
First Author: Chaya T
Year: 2014
Journal: EMBO J
Title: ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport.
Volume: 33
Issue: 11
Pages: 1227-42
Publication
First Author: Cobellis G
Year: 2005
Journal: Nucleic Acids Res
Title: Tagging genes with cassette-exchange sites.
Volume: 33
Issue: 4
Pages: e44
Publication        
First Author: Cyagen Biosciences Inc.
Year: 2022
Title: Cyagen Biosciences Website.
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication
First Author: Rachel RA
Year: 2012
Journal: Cilia
Title: Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.
Volume: 1
Issue: 1
Pages: 22
Publication  
First Author: Patil H
Year: 2012
Journal: Cell Death Dis
Title: Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.
Volume: 3
Pages: e355
Publication
First Author: Patil H
Year: 2012
Journal: Biol Open
Title: Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.
Volume: 1
Issue: 2
Pages: 140-60
Publication
First Author: Mavlyutov TA
Year: 2002
Journal: Hum Mol Genet
Title: Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
Volume: 11
Issue: 16
Pages: 1899-907
Publication
First Author: Roepman R
Year: 2000
Journal: Hum Mol Genet
Title: The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
Volume: 9
Issue: 14
Pages: 2095-105
Publication  
First Author: Li T
Year: 2014
Journal: Cold Spring Harb Perspect Med
Title: Leber congenital amaurosis caused by mutations in RPGRIP1.
Volume: 5
Issue: 4
Publication
First Author: Wang W
Year: 1999
Journal: Gene
Title: Molecular characterization and mapping of canine cGMP-phosphodiesterase delta subunit (PDE6D).
Volume: 236
Issue: 2
Pages: 325-32
Publication
First Author: Zhang H
Year: 2004
Journal: J Biol Chem
Title: Photoreceptor cGMP phosphodiesterase delta subunit (PDEdelta) functions as a prenyl-binding protein.
Volume: 279
Issue: 1
Pages: 407-13
Publication
First Author: Day JP
Year: 2008
Journal: Biochem J
Title: Regulation of a Drosophila melanogaster cGMP-specific phosphodiesterase by prenylation and interaction with a prenyl-binding protein.
Volume: 414
Issue: 3
Pages: 363-74
Publication
First Author: Wätzlich D
Year: 2013
Journal: EMBO Rep
Title: The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo.
Volume: 14
Issue: 5
Pages: 465-72
Publication
First Author: Mookherjee S
Year: 2015
Journal: Hum Mol Genet
Title: Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.
Volume: 24
Issue: 22
Pages: 6446-58
Publication
First Author: Lu J
Year: 2022
Journal: Sci Rep
Title: Spata7 is required for maintenance of the retinal connecting cilium.
Volume: 12
Issue: 1
Pages: 5575
Publication
First Author: Hu S
Year: 2020
Journal: Invest Ophthalmol Vis Sci
Title: In Vivo CRISPR/Cas9-Mediated Genome Editing Mitigates Photoreceptor Degeneration in a Mouse Model of X-Linked Retinitis Pigmentosa.
Volume: 61
Issue: 4
Pages: 31
Publication
First Author: Pawlyk BS
Year: 2005
Journal: Invest Ophthalmol Vis Sci
Title: Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.
Volume: 46
Issue: 9
Pages: 3039-45
Publication
First Author: Jobling AI
Year: 2018
Journal: J Neurosci
Title: The Role of the Microglial Cx3cr1 Pathway in the Postnatal Maturation of Retinal Photoreceptors.
Volume: 38
Issue: 20
Pages: 4708-4723