[cite web | title = Entrez Gene: RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57096| accessdate = ] ] PBB_Summary
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References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Boylan JP, Wright AF |title=Identification of a novel protein interacting with RPGR. |journal=Hum. Mol. Genet. |volume=9 |issue= 14 |pages= 2085–93 |year= 2000 |pmid= 10958647 |doi=
*cite journal | author=Roepman R, Bernoud-Hubac N, Schick DE, "et al." |title=The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. |journal=Hum. Mol. Genet. |volume=9 |issue= 14 |pages= 2095–105 |year= 2000 |pmid= 10958648 |doi=
*cite journal | author=Hong DH, Yue G, Adamian M, Li T |title=Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. |journal=J. Biol. Chem. |volume=276 |issue= 15 |pages= 12091–9 |year= 2001 |pmid= 11104772 |doi= 10.1074/jbc.M009351200
*cite journal | author=Dryja TP, Adams SM, Grimsby JL, "et al." |title=Null RPGRIP1 alleles in patients with Leber congenital amaurosis. |journal=Am. J. Hum. Genet. |volume=68 |issue= 5 |pages= 1295–8 |year= 2001 |pmid= 11283794 |doi=
*cite journal | author=Gerber S, Perrault I, Hanein S, "et al." |title=Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. |journal=Eur. J. Hum. Genet. |volume=9 |issue= 8 |pages= 561–71 |year= 2001 |pmid= 11528500 |doi= 10.1038/sj.ejhg.5200689
*cite journal | author=Mavlyutov TA, Zhao H, Ferreira PA |title=Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. |journal=Hum. Mol. Genet. |volume=11 |issue= 16 |pages= 1899–907 |year= 2003 |pmid= 12140192 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Hameed A, Abid A, Aziz A, "et al." |title=Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. |journal=J. Med. Genet. |volume=40 |issue= 8 |pages= 616–9 |year= 2003 |pmid= 12920076 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Shu X, Fry AM, Tulloch B, "et al." |title=RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. |journal=Hum. Mol. Genet. |volume=14 |issue= 9 |pages= 1183–97 |year= 2005 |pmid= 15772089 |doi= 10.1093/hmg/ddi129
*cite journal | author=Lu X, Guruju M, Oswald J, Ferreira PA |title=Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. |journal=Hum. Mol. Genet. |volume=14 |issue= 10 |pages= 1327–40 |year= 2005 |pmid= 15800011 |doi= 10.1093/hmg/ddi143
*cite journal | author=Lu X, Ferreira PA |title=Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 6 |pages= 1882–90 |year= 2005 |pmid= 15914599 |doi= 10.1167/iovs.04-1286
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Booij JC, Florijn RJ, ten Brink JB, "et al." |title=Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. |journal=J. Med. Genet. |volume=42 |issue= 11 |pages= e67 |year= 2006 |pmid= 16272259 |doi= 10.1136/jmg.2005.035121
*cite journal | author=Roepman R, Letteboer SJ, Arts HH, "et al." |title=Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 51 |pages= 18520–5 |year= 2006 |pmid= 16339905 |doi= 10.1073/pnas.0505774102
*cite journal | author=Jacobson SG, Cideciyan AV, Aleman TS, "et al." |title=Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. |journal=Ophthalmology |volume=114 |issue= 5 |pages= 895–8 |year= 2007 |pmid= 17306875 |doi= 10.1016/j.ophtha.2006.10.028
*cite journal | author=Arts HH, Doherty D, van Beersum SE, "et al." |title=Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. |journal=Nat. Genet. |volume=39 |issue= 7 |pages= 882–8 |year= 2007 |pmid= 17558407 |doi= 10.1038/ng2069
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