PMC Links for Gene (Select 305850) - PMC

Select item 17355631.

Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy

A Hameed, A Abid, A Aziz, M Ismail, S Mehdi, S Khaliq

J Med Genet. 2003 Aug; 40(8): 616–619. doi: 10.1136/jmg.40.8.616

PMCID:: PMC1735563

Select item 12261112.

Null RPGRIP1 Alleles in Patients with Leber Congenital Amaurosis

Thaddeus P. Dryja, Scott M. Adams, Jonna L. Grimsby, Terri L. McGee, Dong-Hyun Hong, Tiansen Li, Sten Andréasson, Eliot L. Berson

Am J Hum Genet. 2001 May; 68(5): 1295–1298. Published online 2001 Mar 29. doi: 10.1086/320113

PMCID:: PMC1226111

Abstract Article PDF–294K

Select item 43513783.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Aiden Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, Julian Esteve-Rudd, Hua Zhong, Stef Letteboer, Jeroen Van Reeuwijk, David L. Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia Van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M. Wu, David S. Williams, Graeme Mardon, Ronald Roepman, Rui Chen

Hum Mol Genet. 2015 Mar 15; 24(6): 1584–1601. Published online 2014 Nov 14. doi: 10.1093/hmg/ddu573

PMCID:: PMC4351378

Abstract Article PDF–1.7M

Select item 1530314.

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis

Yun Zhao, Dong-Hyun Hong, Basil Pawlyk, Guohua Yue, Michael Adamian, Marcin Grynberg, Adam Godzik, Tiansen Li

Proc Natl Acad Sci U S A. 2003 Apr 1; 100(7): 3965–3970. Published online 2003 Mar 21. doi: 10.1073/pnas.0637349100

PMCID:: PMC153031

Abstract Article PDF–799K

Select item 29238045.

Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1

Jennifer E. Westfall, Carlton Hoyt, Qin Liu, Yi-Chun Hsiao, Eric A. Pierce, Patrick S. Page-McCaw, Russell J. Ferland

J Neurosci. 2010 Jun 30; 30(26): 8759–8768. doi: 10.1523/JNEUROSCI.5229-09.2010

PMCID:: PMC2923804

Abstract Article PDF–3.8M

Select item 60809256.

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 29687147.

Mouse Model Resources for Vision Research

Jungyeon Won, Lan Ying Shi, Wanda Hicks, Jieping Wang, Ronald Hurd, Jürgen K. Naggert, Bo Chang, Patsy M. Nishina

J Ophthalmol. 2011; 2011: 391384. Published online 2010 Oct 31. doi: 10.1155/2011/391384

PMCID:: PMC2968714

Abstract Article PDF–5.7M

Select item 1392418.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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