PMC Links for GEO Profiles (Select 69501823) - PMC

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Items: 13

Select item 60809251.

SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium

Rachayata Dharmat, Aiden Eblimit, Michael A. Robichaux, Zhixian Zhang, Thanh-Minh T. Nguyen, Sung Yun Jung, Feng He, Antrix Jain, Yumei Li, Jun Qin, Paul Overbeek, Ronald Roepman, Graeme Mardon, Theodore G. Wensel, Rui Chen

J Cell Biol. 2018 Aug 6; 217(8): 2851–2865. doi: 10.1083/jcb.201712117

PMCID:: PMC6080925

Abstract Article PDF–2.8M

Select item 38565312.

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 33413863.

Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15

Debra A. Thompson, Naheed W. Khan, Mohammad I. Othman, Bo Chang, Lin Jia, Garrett Grahek, Zhijian Wu, Suja Hiriyanna, Jacob Nellissery, Tiansen Li, Hemant Khanna, Peter Colosi, Anand Swaroop, John R. Heckenlively

PLoS One. 2012; 7(5): e35865. Published online 2012 May 1. doi: 10.1371/journal.pone.0035865

PMCID:: PMC3341386

Abstract Article PDF–2.6M

Select item 31780594.

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 30812285.

Whirlin Replacement Restores the Formation of the USH2 Protein Complex in Whirlin Knockout Photoreceptors

Junhuang Zou, Ling Luo, Zuolian Shen, Vince A. Chiodo, Balamurali K. Ambati, William W. Hauswirth, Jun Yang

Invest Ophthalmol Vis Sci. 2011 Apr; 52(5): 2343–2351. Published online 2011 Apr 12. doi: 10.1167/iovs.10-6141

PMCID:: PMC3081228

Abstract Article PDF–5.2M

Select item 29287066.

Replacement Gene Therapy with a Human RPGRIP1 Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis

Basil S. Pawlyk, Oleg V. Bulgakov, Xiaoqing Liu, Xiaoyun Xu, Michael Adamian, Xun Sun, Shahrokh C. Khani, Eliot L. Berson, Michael A. Sandberg, Tiansen Li

Hum Gene Ther. 2010 Aug; 21(8): 993–1004. Published online 2010 Jul 16. doi: 10.1089/hum.2009.218

PMCID:: PMC2928706

Abstract Article PDF–792K

Select item 25632257.

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

A Moore, E Escudier, G Roger, A Tamalet, B Pelosse, S Marlin, A Clément, M Geremek, B Delaisi, A‐M Bridoux, A Coste, M Witt, B Duriez, S Amselem

J Med Genet. 2006 Apr; 43(4): 326–333. Published online 2005 Jul 31. doi: 10.1136/jmg.2005.034868

PMCID:: PMC2563225

Abstract Article PDF–966K

Select item 17160858.

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

M Buraczynska, W Wu, R Fujita, K Buraczynska, E Phelps, S Andréasson, J Bennett, D G Birch, G A Fishman, D R Hoffman, G Inana, S G Jacobson, M A Musarella, P A Sieving, A Swaroop

Am J Hum Genet. 1997 Dec; 61(6): 1287–1292. doi: 10.1086/301646

PMCID:: PMC1716085

Summary Page Browse PDF–1.1M

Select item 12494799.

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

Hemant Khanna, Toby W. Hurd, Concepcion Lillo, Xinhua Shu, Sunil K. Parapuram, Shirley He, Masayuki Akimoto, Alan F. Wright, Ben Margolis, David S. Williams, Anand Swaroop

J Biol Chem. Author manuscript; available in PMC 2005 Oct 7.

Published in final edited form as: J Biol Chem. 2005 Sep 30; 280(39): 33580–33587. Published online 2005 Jul 25. doi: 10.1074/jbc.M505827200

PMCID:: PMC1249479

Abstract Article PDF–1.3M

Select item 37910110.

X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

F. Yesim K. Demirci, Brian W. Rigatti, Gaiping Wen, Amy L. Radak, Tammy S. Mah, Corrine L. Baic, Elias I. Traboulsi, Tiina Alitalo, Juliane Ramser, Michael B. Gorin

Am J Hum Genet. 2002 Apr; 70(4): 1049–1053. Published online 2002 Feb 20. doi: 10.1086/339620