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Items: 1 to 20 of 67

1.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F.

Nat Genet. 2006 Jun;38(6):674-81. Epub 2006 May 7.

PMID:
16682973
2.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F.

J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.

3.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C.

Hum Mutat. 2008 Jan;29(1):45-52.

PMID:
17705300
4.

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.

Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S.

J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.

5.

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
6.

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.

Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23.

7.

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.

Cheng YZ, Eley L, Hynes AM, Overman LM, Simms RJ, Barker A, Dawe HR, Lindsay S, Sayer JA.

PLoS One. 2012;7(9):e44975. doi: 10.1371/journal.pone.0044975. Epub 2012 Sep 24.

8.

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

Baye LM, Patrinostro X, Swaminathan S, Beck JS, Zhang Y, Stone EM, Sheffield VC, Slusarski DC.

Hum Mol Genet. 2011 Apr 15;20(8):1467-77. doi: 10.1093/hmg/ddr025. Epub 2011 Jan 21.

9.

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.

Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A.

Hum Mol Genet. 2006 Jun 1;15(11):1847-57. Epub 2006 Apr 21.

10.

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A.

Hum Mutat. 2007 Nov;28(11):1074-83.

11.

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH.

J Clin Invest. 2015 Sep;125(9):3657-66. doi: 10.1172/JCI80657. Epub 2015 Aug 24.

12.

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM.

Hum Mutat. 2007 Apr;28(4):416.

PMID:
17345604
13.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F.

Nat Genet. 2005 Mar;37(3):282-8. Epub 2005 Feb 20.

PMID:
15723066
14.

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.

McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR.

Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15917-22. Epub 2007 Sep 26.

15.

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F.

Kidney Int. 2007 Dec;72(12):1520-6. Epub 2007 Oct 24.

16.

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Kim J, Krishnaswami SR, Gleeson JG.

Hum Mol Genet. 2008 Dec 1;17(23):3796-805. doi: 10.1093/hmg/ddn277. Epub 2008 Sep 4.

17.

Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.

Hynes AM, Giles RH, Srivastava S, Eley L, Whitehead J, Danilenko M, Raman S, Slaats GG, Colville JG, Ajzenberg H, Kroes HY, Thelwall PE, Simmons NL, Miles CG, Sayer JA.

Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9893-8. doi: 10.1073/pnas.1322373111. Epub 2014 Jun 19.

18.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC.

Hum Mol Genet. 2014 Jan 1;23(1):40-51. doi: 10.1093/hmg/ddt394. Epub 2013 Aug 13.

19.

Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.

Wang L, Yang Y, Song J, Mao L, Wei X, Sun Y, Yang S, Mu F, Wang H, Niu Y.

J Child Neurol. 2015 May;30(6):772-6. doi: 10.1177/0883073814535488. Epub 2014 May 21.

PMID:
24850569
20.

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

Cideciyan AV, Rachel RA, Aleman TS, Swider M, Schwartz SB, Sumaroka A, Roman AJ, Stone EM, Jacobson SG, Swaroop A.

Hum Mol Genet. 2011 Apr 1;20(7):1411-23. doi: 10.1093/hmg/ddr022. Epub 2011 Jan 18.

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