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Select item 101668021.

Nrl:CreERT2 mouse model to induce mosaic gene expression in rod photoreceptors

Molly T. Thorson, Stephanie E. Wei, Craig Johnson, Christopher J. Gabriel, Vadim Y. Arshavsky, Jillian N. Pearring

Front Mol Neurosci. 2023; 16: 1161127. Published online 2023 Apr 25. doi: 10.3389/fnmol.2023.1161127

PMCID:: PMC10166802

Abstract Article PDF–1.3M

Select item 92332842.

Characterization of Double-Strand Break Repair Protein Ku80 Location Within the Murine Retina

Brigitte Müller, Franziska Serafin, Leonie Luise Laucke, Wilhelm Rheinhard, Tobias Wimmer, Knut Stieger

Invest Ophthalmol Vis Sci. 2022 Jun; 63(6): 22. Published online 2022 Jun 23. doi: 10.1167/iovs.63.6.22

PMCID:: PMC9233284

Abstract Article PDF–29M

Select item 72270283.

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs

Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931

PMCID:: PMC7227028

Abstract Article PDF–5.4M

Select item 67618834.

Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP

Antonio Falasconi, Martina Biagioni, Elena Novelli, Ilaria Piano, Claudia Gargini, Enrica Strettoi

Front Neurosci. 2019; 13: 991. Published online 2019 Sep 19. doi: 10.3389/fnins.2019.00991

PMCID:: PMC6761883

Abstract Article PDF–6.7M

Select item 62947335.

Toward genome editing in X-linked RP—development of a mouse model with specific treatment relevant features

J. Schlegel, J. Hoffmann, D. Röll, B. Müller, S. Günther, W. Zhang, A. Janise, C. Vössing, B Fühler, J. Neidhardt, H. Khanna, B. Lorenz, K. Stieger

Transl Res. 2019 Jan; 203: 57–72. doi: 10.1016/j.trsl.2018.08.006

PMCID:: PMC6294733

Abstract Article

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 60786027.

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration

Jason Charng, Artur V. Cideciyan, Samuel G. Jacobson, Alexander Sumaroka, Sharon B. Schwartz, Malgorzata Swider, Alejandro J. Roman, Rebecca Sheplock, Manisha Anand, Marc C. Peden, Hemant Khanna, Elise Heon, Alan F. Wright, Anand Swaroop

Hum Mol Genet. 2016 Dec 15; 25(24): 5444–5459. Published online 2016 Oct 25. doi: 10.1093/hmg/ddw361

Correction in:: Hum Mol Genet. 2019 Jan 1; 28(1): 175.

PMCID:: PMC6078602

Abstract Article PDF–1.5M

Select item 60785988.

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E

Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, Hemant Khanna

Hum Mol Genet. 2016 Oct 15; 25(20): 4533–4545. Published online 2016 Aug 22. doi: 10.1093/hmg/ddw281

PMCID:: PMC6078598

Abstract Article PDF–1.3M

Select item 55594479.

Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models

Roly Megaw, Hashem Abu-Arafeh, Melissa Jungnickel, Carla Mellough, Christine Gurniak, Walter Witke, Wei Zhang, Hemant Khanna, Pleasantine Mill, Baljean Dhillon, Alan F. Wright, Majlinda Lako, Charles ffrench-Constant

Nat Commun. 2017; 8: 271. Published online 2017 Aug 16. doi: 10.1038/s41467-017-00111-8

PMCID:: PMC5559447

Abstract Article PDF–2.9M

Select item 506258910.

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

Kollu N. Rao, Wei Zhang, Linjing Li, Cecinio Ronquillo, Wolfgang Baehr, Hemant Khanna

Hum Mol Genet. 2016 May 15; 25(10): 2005–2012. Published online 2016 Mar 2. doi: 10.1093/hmg/ddw075

PMCID:: PMC5062589

Abstract Article PDF–928K

Select item 489066911.

The carboxyl terminal mutational hotspot of the ciliary disease protein RPGR^ORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo

Kollu N. Rao, Manisha Anand, Hemant Khanna

Biol Open. 2016 Apr 15; 5(4): 424–428. Published online 2016 Mar 3. doi: 10.1242/bio.016816

PMCID:: PMC4890669

Abstract Article PDF–480K

Select item 488937112.

Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations

Xun Sun, James H. Park, Jessica Gumerson, Zhijian Wu, Anand Swaroop, Haohua Qian, Antonina Roll-Mecak, Tiansen Li

Proc Natl Acad Sci U S A. 2016 May 24; 113(21): E2925–E2934. Published online 2016 May 9. doi: 10.1073/pnas.1523201113

PMCID:: PMC4889371

Abstract Article PDF–2.1M

Select item 478790413.

Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina

Kollu N. Rao, Linjing Li, Wei Zhang, Richard S. Brush, Raju V.S. Rajala, Hemant Khanna

Hum Mol Genet. 2016 Apr 1; 25(7): 1345–1356. Published online 2016 Jan 24. doi: 10.1093/hmg/ddw017

PMCID:: PMC4787904

Abstract Article PDF–898K

Select item 447644414.

A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration

Zhijian Wu, Suja Hiriyanna, Haohua Qian, Suddhasil Mookherjee, Maria M. Campos, Chun Gao, Robert Fariss, Paul A. Sieving, Tiansen Li, Peter Colosi, Anand Swaroop

Hum Mol Genet. 2015 Jul 15; 24(14): 3956–3970. Published online 2015 Apr 15. doi: 10.1093/hmg/ddv134

PMCID:: PMC4476444

Abstract Article PDF–1.4M

Select item 446394515.

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

Kollu N. Rao, Linjing Li, Manisha Anand, Hemant Khanna

Sci Rep. 2015; 5: 11137. Published online 2015 Jun 11. doi: 10.1038/srep11137

PMCID:: PMC4463945

Abstract Article PDF–1.4M

Select item 419802616.

ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport

Taro Chaya, Yoshihiro Omori, Ryusuke Kuwahara, Takahisa Furukawa

EMBO J. 2014 Jun 2; 33(11): 1227–1242. Published online 2014 May 5. doi: 10.1002/embj.201488175

PMCID:: PMC4198026

Abstract Article PDF–2.7M

Select item 342210417.

RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model

Wei Chieh Huang, Alan F. Wright, Alejandro J. Roman, Artur V. Cideciyan, Forbes D. Manson, Dina Y. Gewaily, Sharon B. Schwartz, Sam Sadigh, Maria P. Limberis, Peter Bell, James M. Wilson, Anand Swaroop, Samuel G. Jacobson

Invest Ophthalmol Vis Sci. 2012 Aug; 53(9): 5594–5608. Published online 2012 Aug 15. doi: 10.1167/iovs.12-10070

PMCID:: PMC3422104

Abstract Article PDF–5.0M

Select item 334138618.

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