"Positional cloning of the gene for X-linked retinitis pigmentosa 2."
Schwahn U. , Lenzner S. , Dong J. , Feil S. , Hinzmann B. , van Duijnhoven G. , Kirschner R. , Hemberger M. , Bergen A.A.B. , Rosenberg T. , Pinckers A.J.L.G. , Fundele R. , Rosenthal A. , Cremers F.P.M. , Ropers H.-H. , Berger W.
Nat. Genet.19:327-332(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane."
Chapple J.P. , Hardcastle A.J. , Grayson C. , Spackman L.A. , Willison K.R. , Cheetham M.E.
Hum. Mol. Genet.9:1919-1926(2000) [PubMed] [Europe PMC] [Abstract]

"Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C."
Bartolini F. , Bhamidipati A. , Thomas S. , Schwahn U. , Lewis S.A. , Cowan N.J.
J. Biol. Chem.277:14629-14634(2002) [PubMed] [Europe PMC] [Abstract]

"Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3."
Grayson C. , Bartolini F. , Chapple J.P. , Willison K.R. , Bhamidipati A. , Lewis S.A. , Luthert P.J. , Hardcastle A.J. , Cowan N.J. , Cheetham M.E.
Hum. Mol. Genet.11:3065-3074(2002) [PubMed] [Europe PMC] [Abstract]

"Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex."
Veltel S. , Kravchenko A. , Ismail S. , Wittinghofer A.
FEBS Lett.582:2501-2507(2008) [PubMed] [Europe PMC] [Abstract]

"The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium."
Evans R.J. , Schwarz N. , Nagel-Wolfrum K. , Wolfrum U. , Hardcastle A.J. , Cheetham M.E.
Hum. Mol. Genet.19:1358-1367(2010) [PubMed] [Europe PMC] [Abstract]

"An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium."
Wright K.J. , Baye L.M. , Olivier-Mason A. , Mukhopadhyay S. , Sang L. , Kwong M. , Wang W. , Pretorius P.R. , Sheffield V.C. , Sengupta P. , Slusarski D.C. , Jackson P.K.
Genes Dev.25:2347-2360(2011) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3."
Kuehnel K. , Veltel S. , Schlichting I. , Wittinghofer A.
Structure14:367-378(2006) [PubMed] [Europe PMC] [Abstract]

"The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3."
Veltel S. , Gasper R. , Eisenacher E. , Wittinghofer A.
Nat. Struct. Mol. Biol.15:373-380(2008) [PubMed] [Europe PMC] [Abstract]

"Mutations in the RP2 gene cause disease in 10% of families with familial X-Linked retinitis pigmentosa assessed in this study."
Hardcastle A.J. , Thiselton D.L. , Van Maldergem L. , Saha B.K. , Jay M. , Plant C. , Taylor R. , Bird A.C. , Bhattacharya S.
Am. J. Hum. Genet.64:1210-1215(1999) [PubMed] [Europe PMC] [Abstract]

"Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)."
Rosenberg T. , Schwahn U. , Feil S. , Berger W.
Ophthalmic Genet.20:161-172(1999) [PubMed] [Europe PMC] [Abstract]

"Novel frameshift mutations in the RP2 gene and polymorphic variants."
Thiselton D.L. , Zito I. , Plant C. , Jay M. , Hodgson S.V. , Bird A.C. , Bhattacharya S.S. , Hardcastle A.J.
Hum. Mutat.15:580-580(2000) [PubMed] [Europe PMC] [Abstract]

"A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa."
Wada Y. , Nakazawa M. , Abe T. , Tamai M.
Invest. Ophthalmol. Vis. Sci.41:290-293(2000) [PubMed] [Europe PMC] [Abstract]

"X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function."
Sharon D. , Bruns G.A.P. , McGee T.L. , Sandberg M.A. , Berson E.L. , Dryja T.P.
Invest. Ophthalmol. Vis. Sci.41:2712-2721(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains."
Miano M.G. , Testa F. , Filippini F. , Trujillo M. , Conte I. , Lanzara C. , Millan J.M. , De Bernardo C. , Grammatico B. , Mangino M. , Torrente I. , Carrozzo R. , Simonelli F. , Rinaldi E. , Ventruto V. , D'Urso M. , Ayuso C. , Ciccodicola A.
Hum. Mutat.18:109-119(2001) [PubMed] [Europe PMC] [Abstract]

"A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa."
Breuer D.K. , Yashar B.M. , Filippova E. , Hiriyanna S. , Lyons R.H. , Mears A.J. , Asaye B. , Acar C. , Vervoort R. , Wright A.F. , Musarella M.A. , Wheeler P. , MacDonald I. , Iannaccone A. , Birch D. , Hoffman D.R. , Fishman G.A. , Heckenlively J.R. , Jacobson S.G. , Sieving P.A. , Swaroop A. more...
Am. J. Hum. Genet.70:1545-1554(2002) [PubMed] [Europe PMC] [Abstract]

"RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa."
Sharon D. , Sandberg M.A. , Rabe V.W. , Stillberger M. , Dryja T.P. , Berson E.L.
Am. J. Hum. Genet.73:1131-1146(2003) [PubMed] [Europe PMC] [Abstract]

"X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15."
Bader I. , Brandau O. , Achatz H. , Apfelstedt-Sylla E. , Hergersberg M. , Lorenz B. , Wissinger B. , Wittwer B. , Rudolph G. , Meindl A. , Meitinger T.
Invest. Ophthalmol. Vis. Sci.44:1458-1463(2003) [PubMed] [Europe PMC] [Abstract]

"Next-generation genetic testing for retinitis pigmentosa."
Neveling K. , Collin R.W. , Gilissen C. , van Huet R.A. , Visser L. , Kwint M.P. , Gijsen S.J. , Zonneveld M.N. , Wieskamp N. , de Ligt J. , Siemiatkowska A.M. , Hoefsloot L.H. , Buckley M.F. , Kellner U. , Branham K.E. , den Hollander A.I. , Hoischen A. , Hoyng C. , Klevering B.J. , van den Born L.I. , Veltman J.A. , Cremers F.P. , Scheffer H. more...
Hum. Mutat.33:963-972(2012) [PubMed] [Europe PMC] [Abstract]