PMC Links for GEO Profiles (Select 118102629) - PMC - NCBI

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Items: 11

Select item 41556891.

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

Abstract Article PDF–1.1M

Select item 38579432.

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

Abstract Article PDF–1.7M

Select item 38565313.

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

Abstract Article PDF–231K

Select item 38430564.

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

Abstract Article PDF–2.3M

Select item 33946875.

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

Abstract Article PDF–464K

Select item 32756386.

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

Abstract Article PDF–1.2M

Select item 31780597.

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

Abstract Article PDF–1.0M

Select item 31588168.

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

Abstract Article PDF–2.0M

Select item 31100639.

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

Abstract Article PDF–2.0M

Select item 279288910.

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

Abstract Article PDF–743K

Select item 209552711.

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

Abstract Article PDF–843K

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