PMC Links for Nucleotide (Select 165932347) - PMC

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Items: 17

Select item 55786691.

Mouse models of human ocular disease for translational research

Mark P. Krebs, Gayle B. Collin, Wanda L. Hicks, Minzhong Yu, Jeremy R. Charette, Lan Ying Shi, Jieping Wang, Jürgen K. Naggert, Neal S. Peachey, Patsy M. Nishina

PLoS One. 2017; 12(8): e0183837. Published online 2017 Aug 31. doi: 10.1371/journal.pone.0183837

PMCID:: PMC5578669

Abstract Article PDF–26M

Select item 49918042.

The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina

Daniel Murphy, Benjamin Cieply, Russ Carstens, Visvanathan Ramamurthy, Peter Stoilov

PLoS Genet. 2016 Aug; 12(8): e1006256. Published online 2016 Aug 19. doi: 10.1371/journal.pgen.1006256

Correction in:: PLoS Genet. 2016 Nov; 12(11): e1006432.

PMCID:: PMC4991804

Abstract Article PDF–11M

Select item 49655763.

Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client

Kota N. Gopalakrishna, Kimberly Boyd, Ravi P. Yadav, Nikolai O. Artemyev

J Biol Chem. 2016 Jul 29; 291(31): 16282–16291. Published online 2016 Jun 7. doi: 10.1074/jbc.M116.737593

PMCID:: PMC4965576

Abstract Article PDF–1.8M

Select item 44056364.

Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa

Daniel Murphy, Ratnesh Singh, Saravanan Kolandaivelu, Visvanathan Ramamurthy, Peter Stoilov

Mol Cell Biol. 2015 May; 35(10): 1860–1870. Prepublished online 2015 Mar 16. Published online 2015 Apr 21. doi: 10.1128/MCB.00040-15

PMCID:: PMC4405636

Abstract Article PDF–3.0M

Select item 43578065.

Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model

Cristy A. Ku, Vince A. Chiodo, Sanford L. Boye, Abigail Hayes, Andrew F.X. Goldberg, William W. Hauswirth, Visvanathan Ramamurthy

Hum Mol Genet. 2015 Feb 1; 24(3): 670–684. Published online 2014 Sep 30. doi: 10.1093/hmg/ddu487

PMCID:: PMC4357806

Abstract Article PDF–1.3M

Select item 25855026.

The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1

Dayna T. Akey, Xuemei Zhu, Michael Dyer, Aimin Li, Adam Sorensen, Seth Blackshaw, Taeko Fukuda-Kamitani, Stephen P. Daiger, Cheryl M. Craft, Tetsu Kamitani, Melanie M. Sohocki

Hum Mol Genet. Author manuscript; available in PMC 2008 Nov 20.

Published in final edited form as: Hum Mol Genet. 2002 Oct 15; 11(22): 2723–2733. doi: 10.1093/hmg/11.22.2723

Correction in:: Hum Mol Genet, volume 12 on page 451

PMCID:: PMC2585502

Abstract Article PDF–2.8M

Select item 25814487.

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan, Seth Blackshaw, Constance L. Cepko, Annette M. Payne, Shomi S. Bhattacharya, Shagufta Khaliq, S. Qasim Mehdi, David G. Birch, Wilbur R. Harrison, Frederick F.B. Elder, John R. Heckenlively, Stephen P. Daiger

Nat Genet. Author manuscript; available in PMC 2008 Nov 7.

Published in final edited form as: Nat Genet. 2000 Jan; 24(1): 79–83. doi: 10.1038/71732

PMCID:: PMC2581448

Abstract Article PDF–612K

Select item 25814458.

Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans

Melanie M. Sohocki, Lori S. Sullivan, Dayna L. Tirpak, Stephen P. Daiger

Mamm Genome. Author manuscript; available in PMC 2008 Nov 7.

Published in final edited form as: Mamm Genome. 2001 Jul; 12(7): 566–568. doi: 10.1007/s003350020024

PMCID:: PMC2581445

Abstract Article PDF–582K

Select item 5188519.

AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase

Xiaoqing Liu, Oleg V. Bulgakov, Xiao-Hong Wen, Michael L. Woodruff, Basil Pawlyk, Jun Yang, Gordon L. Fain, Michael A. Sandberg, Clint L. Makino, Tiansen Li

Proc Natl Acad Sci U S A. 2004 Sep 21; 101(38): 13903–13908. Published online 2004 Sep 13. doi: 10.1073/pnas.0405160101

Correction in:: Proc Natl Acad Sci U S A. 2005 Jan 11; 102(2): 515.

PMCID:: PMC518851

Abstract Article PDF–528K

Select item 24066910.

AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins

Visvanathan Ramamurthy, Melanie Roberts, Focco van den Akker, Gregory Niemi, T. A. Reh, James B. Hurley

Proc Natl Acad Sci U S A. 2003 Oct 28; 100(22): 12630–12635. Published online 2003 Oct 10. doi: 10.1073/pnas.2134194100

PMCID:: PMC240669

Abstract Article PDF–354K

Select item 691008411.

LSD1-Mediated Demethylation of H3K4me2 Is Required for the Transition from Late Progenitor to Differentiated Mouse Rod Photoreceptor

Evgenya Y. Popova, Carolina Pinzon-Guzman, Anna C. Salzberg, Samuel Shao-Min Zhang, Colin J. Barnstable

Mol Neurobiol. Author manuscript; available in PMC 2019 Dec 13.

Published in final edited form as: Mol Neurobiol. 2016 Sep; 53(7): 4563–4581. Published online 2015 Aug 23. doi: 10.1007/s12035-015-9395-8

PMCID:: PMC6910084

Abstract Article PDF–3.2M

Select item 670336512.

Differential DNA Methylation Patterns Define Status Epilepticus and Epileptic Tolerance

Suzanne F. C. Miller-Delaney, Sudipto Das, Takanori Sano, Eva M. Jimenez-Mateos, Kenneth Bryan, Patrick G. Buckley, Raymond L. Stallings, David C. Henshall

J Neurosci. 2012 Feb 1; 32(5): 1577–1588. doi: 10.1523/JNEUROSCI.5180-11.2012

PMCID:: PMC6703365

Abstract Article PDF–2.8M

Select item 344114513.

NeuroD1 is required for survival of photoreceptors but not pinealocytes: Results from targeted gene deletion studies

Margaret J. Ochocinska, Estela M. Muñoz, Shobi Veleri, Joan L. Weller, Steven L. Coon, Nikita Pozdeyev, P. Michael Iuvone, Sandra Goebbels, Takahisa Furukawa, David C. Klein

J Neurochem. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: J Neurochem. 2012 Oct; 123(1): 44–59. Published online 2012 Aug 16. doi: 10.1111/j.1471-4159.2012.07870.x

PMCID:: PMC3441145

Abstract Article PDF–4.5M

Select item 323338614.

Next-generation sequencing facilitates quantitative analysis of wild-type and Nrl^−/− retinal transcriptomes

Matthew J. Brooks, Harsha K. Rajasimha, Jerome E. Roger, Anand Swaroop

Mol Vis. 2011; 17: 3034–3054. Published online 2011 Nov 23.

PMCID:: PMC3233386

Abstract Article PDF–1.0M

Select item 305329615.

Sigma Receptor 1 Modulates Endoplasmic Reticulum Stress in Retinal Neurons

Yonju Ha, Ying Dun, Muthusamy Thangaraju, Jennifer Duplantier, Zheng Dong, Kebin Liu, Vadivel Ganapathy, Sylvia B. Smith

Invest Ophthalmol Vis Sci. 2011 Jan; 52(1): 527–540. Published online 2011 Jan 25. doi: 10.1167/iovs.10-5731

PMCID:: PMC3053296

Abstract Article PDF–1.6M

Select item 295469316.

Intermittent Hypoxia Mobilizes Bone Marrow-Derived Very Small Embryonic-Like Stem Cells and Activates Developmental Transcriptional Programs in Mice

Sina A. Gharib, Ehab A. Dayyat, Abdelnaby Khalyfa, Jinkwan Kim, Heather B. Clair, Magdalena Kucia, David Gozal

Sleep. 2010 Nov 1; 33(11): 1439–1446. doi: 10.1093/sleep/33.11.1439

PMCID:: PMC2954693

Abstract Article PDF–1.7M

Select item 275601517.

Endogenous Elevation of Homocysteine Induces Retinal Neuron Death in the Cystathionine-β-Synthase Mutant Mouse

Preethi S. Ganapathy, Brent Moister, Penny Roon, Barbara A. Mysona, Jennifer Duplantier, Ying Dun, Tracy K. V. E. Moister, Marlena J. Farley, Puttur D. Prasad, Kebin Liu, Sylvia B. Smith

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2010 Sep 1.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Sep; 50(9): 4460–4470. Published online 2009 Apr 8. doi: 10.1167/iovs.09-3402