| 1 | CROCC, NEK4, RPGRIP1, RPGRIP1L
|
| The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
|
| Coene KL, Mans DA, Boldt K, Gloeckner CJ, van Reeuwijk J, Bolat E, Roosing S, Letteboer SJ, Peters TA, Cremers FP, Ueffing M, Roepman R.
|
| Hum Mol Genet 20(18):3592-605. doi: 10.1093/hmg/ddr280. Epub 2011 Jun 17.
2011
|
| 2 | AIPL1, LCA5, RPGRIP1
|
| Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
|
| McKibbin M, Ali M, Mohamed MD, Booth AP, Bishop F, Pal B, Springell K, Raashid Y, Jafri H, Inglehearn CF.
|
| Arch Ophthalmol 128(1):107-13.PMID: 20065226 2010
|
| 3 | RPGRIP1
|
| Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of leber congenital amaurosis.
|
| Pawlyk BS, Bulgakov OV, Liu X, Xu X, Adamian M, Sun X, Khani SC, Berson EL, Sandberg MA, Li T.
|
| Hum Gene Ther 21(8):993-1004.PMID: 20384479 2010
|
| 4 | DEL14QD, DEL14QP, FOXG1, RG14, RPGRIP1
|
| The ring 14 syndrome: clinical and molecular definition.
|
| Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G.
|
| Am J Med Genet A 149A(6):1116-24. 2009
|
| 5 | RPGRIP1
|
| RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.
|
| Won J, Gifford E, Smith RS, Yi H, Ferreira PA, Hicks WL, Li T, Naggert JK, Nishina PM.
|
| Hum Mol Genet 18(22):4329-39. Epub 2009 Aug 13.PMID: 19679561 2009
|
| 6 | RPGRIP1
|
| RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.
|
| Murga-Zamalloa CA, Swaroop A, Khanna H.
|
| J Genet 88(4):399-407. Review.PMID: 20090203 2009
|
| 7 | RPGRIP1
|
| Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.
|
| Miyadera K, Kato K, Aguirre-Hernández J, Tokuriki T, Morimoto K, Busse C, Barnett K, Holmes N, Ogawa H, Sasaki N, Mellersh CS, Sargan DR.
|
| Mol Vis 15:2287-305.PMID: 19936303 2009
|
| 8 | LCA6, RPGRIP1
|
| Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
|
| Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM.
|
| Ophthalmology 114(5):895-8. Epub 2007 Feb 16.
2007
|
| 9 | RPGR, RPGRIP1
|
| RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.
|
| Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF.
|
| Hum Mol Genet 14(9):1183-97. Epub 2005 Mar 16. 2005
|
| 10 | RPGRIP1, RPGR, RP3
|
| Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.
|
| Ferreira PA.
|
| Hum Mol Genet 14 Spec No. 2:R259-67. 2005
|
| 11 | RPGRIP1, LCA6, NPHP4, SLSN4
|
| Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
|
| Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP.
|
| Proc Natl Acad Sci U S A 102(51):18520-5. Epub 2005 Dec 9. 2005
|
| 12 | LCA6, RPGRIP1
|
| RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
|
| Koenekoop RK.
|
| Ophthalmic Genet 26(4):175-9. 2005
|
| 13 | RPGRIP1, LCA6
|
| Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization.
|
| Lu X, Ferreira PA.
|
| Invest Ophthalmol Vis Sci 46(6):1882-90. 2005
|
| 14 | RPGRIP1, CORD9
|
| Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.
|
| Hameed A, Abid A, Aziz A, Ismail M, Mehdi SQ, Khaliq S.
|
| J Med Genet 40(8):616-9. No abstract available. 2003
|
| 15 | RANBP2, RPGRIP1
|
| RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.
|
| Castagnet P, Mavlyutov T, Cai Y, Zhong F, Ferreira P.
|
| Hum Mol Genet 12(15):1847-63. 2003
|
| 16 | CRB1, GUCY2D, RPGRIP1
|
| Molecular genetics of Leber congenital amaurosis.
|
| Cremers FP, Van Den Hurk JA, Den Hollander AI.
|
| Hum Mol Genet 11(10):1169-76. 2002
|
| 17 | RPGR, RPGRIP1
|
| Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species.
|
| Mavlyutov TA, Zhao H, Ferreira PA.
|
| Hum Mol Genet 11(16):1899-907. 2002
|
| 18 | RPGRIP1
|
| Null RPGRIP1 alleles in patients with Leber congenital amaurosis.
|
| Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andreasson S, Berson EL.
|
| Am J Hum Genet 68(5):1295-8. 2001
|
| 19 | CRB1, LCA6, RPGRIP1
|
| Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.
|
| Gerber S, Perrault I, Hanein S, Barbet F, Ducroq D, Ghazi I, Martin-Coignard D, Leowski C, Homfray T, Dufier JL, Munnich A, Kaplan J, Rozet JM.
|
| Eur J Hum Genet 9(8):561-71. 2001
|
| 20 | RPGRIP1
|
| Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.
|
| Hong DH, Yue G, Adamian M, Li T.
|
| J Biol Chem 276(15):12091-9. 2001
|
| 21 | RPGRIP1
|
| The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
|
| Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA.
|
| Hum Mol Genet 9(14):2095-105. 2000
|
| 22 | RPGRIP1
|
| Identification of a novel protein interacting with RPGR.
|
| Boylan JP, Wright AF.
|
| Hum Mol Genet 9(14):2085-93. 2000
|