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Links from Gene

Items: 11

1.
Stargardt macular dystrophy: common ABCA4 mutations in South Africa—establishment of a rapid genetic test and relating risk to patients
Lisa J. Roberts, Christel A. Nossek, L. Jacquie Greenberg, Rajkumar S. Ramesar
Mol Vis. 2012; 18: 280–289. Published online 2012 Feb 1.
Correction in:
Mol Vis. 2013; 19: 1847.
PMCID:
PMC3275638
AbstractArticlePDF–1.2M
2.
Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy
J Kong, S-R Kim, K Binley, I Pata, K Doi, J Mannik, J Zernant-Rajang, O Kan, S Iqball, S Naylor, JR Sparrow, P Gouras, R Allikmets
Gene Ther. Author manuscript; available in PMC 2011 Jun 7.
Published in final edited form as: Gene Ther. 2008 Oct; 15(19): 1311–1320. Published online 2008 May 8. doi: 10.1038/gt.2008.78
PMCID:
PMC3110063
AbstractArticlePDF–2.0M
3.
Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene
Tomas R. Burke, Gerald A. Fishman, Jana Zernant, Carl Schubert, Stephen H. Tsang, R. Theodore Smith, Radha Ayyagari, Robert K. Koenekoop, Allison Umfress, Maria Laura Ciccarelli, Alfonso Baldi, Alessandro Iannaccone, Frans P. M. Cremers, Caroline C. W. Klaver, Rando Allikmets
Invest Ophthalmol Vis Sci. 2012 Jul; 53(8): 4458–4467. Published online 2012 Jul 3. doi: 10.1167/iovs.11-9166
PMCID:
PMC3394687
AbstractArticlePDF–464K
4.
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's‐eye maculopathy
M Michaelides, L L Chen, M A Brantley, Jr, J L Andorf, E M Isaak, S A Jenkins, G E Holder, A C Bird, E M Stone, A R Webster
Br J Ophthalmol. 2007; 91(12): 1650–1655. doi: 10.1136/bjo.2007.118356
PMCID:
PMC2095527
AbstractArticlePDF–843K
5.
Limited Roles of Rdh8, Rdh12, and Abca4 in all-trans-Retinal Clearance in Mouse Retina
Akiko Maeda, Marcin Golczak, Tadao Maeda, Krzysztof Palczewski
Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Dec 14.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Nov; 50(11): 5435–5443. Published online 2009 Jun 24. doi: 10.1167/iovs.09-3944
PMCID:
PMC2792889
AbstractArticlePDF–743K
6.
Differential Phospholipid Substrates and Directional Transport by ATP-binding Cassette Proteins ABCA1, ABCA7, and ABCA4 and Disease-causing Mutants
Faraz Quazi, Robert S. Molday
J Biol Chem. 2013 Nov 29; 288(48): 34414–34426. Published online 2013 Oct 4. doi: 10.1074/jbc.M113.508812
PMCID:
PMC3843056
AbstractArticlePDF–2.3M
7.
Key enzymes of the retinoid (visual) cycle in vertebrate retina
Philip D. Kiser, Marcin Golczak, Akiko Maeda, Krzysztof Palczewski
Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jan 1.
Published in final edited form as: Biochim Biophys Acta. 2012 Jan; 1821(1): 137–151. Published online 2011 Apr 5. doi: 10.1016/j.bbalip.2011.03.005
PMCID:
PMC3158816
AbstractArticlePDF–2.0M
8.
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles C. Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield
Hum Mol Genet. 2014 Jan 1; 23(1): 40–51. Published online 2013 Aug 13. doi: 10.1093/hmg/ddt394
PMCID:
PMC3857943
AbstractArticlePDF–1.7M
9.
Genes and mutations causing retinitis pigmentosa
SP Daiger, LS Sullivan, SJ Bowne
Clin Genet. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 10.1111/cge.12203. Published online 2013 Jun 19. doi: 10.1111/cge.12203
PMCID:
PMC3856531
AbstractArticlePDF–231K
10.
Phosphorylation and Degradation of Tomosyn-2 De-represses Insulin Secretion
Sushant Bhatnagar, Mufaddal S. Soni, Lindsay S. Wrighton, Alexander S. Hebert, Amber S. Zhou, Pradyut K. Paul, Trillian Gregg, Mary E. Rabaglia, Mark P. Keller, Joshua J. Coon, Alan D. Attie
J Biol Chem. 2014 Sep 5; 289(36): 25276–25286. Published online 2014 Jul 7. doi: 10.1074/jbc.M114.575985
PMCID:
PMC4155689
AbstractArticlePDF–1.1M
11.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M

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