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Items: 1 to 20 of 49

1.

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina.

Sedmak T, Wolfrum U.

J Cell Biol. 2010 Apr 5;189(1):171-86. doi: 10.1083/jcb.200911095.

2.

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.

Wright AF, Chakarova CF, Abd El-Aziz MM, Bhattacharya SS.

Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717. Review.

PMID:
20212494
3.

SUMOylation-dependent localization of IKKepsilon in PML nuclear bodies is essential for protection against DNA-damage-triggered cell death.

Renner F, Moreno R, Schmitz ML.

Mol Cell. 2010 Feb 26;37(4):503-15. doi: 10.1016/j.molcel.2010.01.018.

4.

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.

Ghosh AK, Murga-Zamalloa CA, Chan L, Hitchcock PF, Swaroop A, Khanna H.

Hum Mol Genet. 2010 Jan 1;19(1):90-8. doi: 10.1093/hmg/ddp469.

5.

The primary cilium as a complex signaling center.

Berbari NF, O'Connor AK, Haycraft CJ, Yoder BK.

Curr Biol. 2009 Jul 14;19(13):R526-35. doi: 10.1016/j.cub.2009.05.025. Review.

6.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10.

7.

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.

Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE.

Acta Ophthalmol. 2010 May;88(3):323-8. doi: 10.1111/j.1755-3768.2008.01465.x. Epub 2009 Jan 30.

8.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Mol Vis. 2008 May 19;14:922-7.

9.

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors.

Insinna C, Besharse JC.

Dev Dyn. 2008 Aug;237(8):1982-92. doi: 10.1002/dvdy.21554. Review.

10.

Centrins in retinal photoreceptor cells: regulators in the connecting cilium.

Trojan P, Krauss N, Choe HW, Giessl A, Pulvermüller A, Wolfrum U.

Prog Retin Eye Res. 2008 May;27(3):237-59. doi: 10.1016/j.preteyeres.2008.01.003. Epub 2008 Jan 31. Review.

PMID:
18329314
11.

Protein networks and complexes in photoreceptor cilia.

Roepman R, Wolfrum U.

Subcell Biochem. 2007;43:209-35. Review.

PMID:
17953396
12.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS.

Am J Hum Genet. 2007 Nov;81(5):1098-103. Epub 2007 Sep 26.

13.

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.

Gerdes JM, Liu Y, Zaghloul NA, Leitch CC, Lawson SS, Kato M, Beachy PA, Beales PL, DeMartino GN, Fisher S, Badano JL, Katsanis N.

Nat Genet. 2007 Nov;39(11):1350-60. Epub 2007 Sep 30.

PMID:
17906624
14.

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells.

Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U.

Hum Mol Genet. 2008 Jan 1;17(1):71-86. Epub 2007 Sep 28.

PMID:
17906286
15.

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK.

Cell. 2007 Jun 15;129(6):1201-13.

16.

Retinitis pigmentosa.

Hartong DT, Berson EL, Dryja TP.

Lancet. 2006 Nov 18;368(9549):1795-809. Review.

PMID:
17113430
17.

Usher syndrome: molecular links of pathogenesis, proteins and pathways.

Kremer H, van Wijk E, Märker T, Wolfrum U, Roepman R.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R262-70. Review.

PMID:
16987892
18.

The ciliopathies: an emerging class of human genetic disorders.

Badano JL, Mitsuma N, Beales PL, Katsanis N.

Annu Rev Genomics Hum Genet. 2006;7:125-48. Review.

PMID:
16722803
19.

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group, Bertini E, Dallapiccola B, Gleeson JG.

Nat Genet. 2006 Jun;38(6):623-5. Epub 2006 May 7.

PMID:
16682970
20.

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