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Select item 101857131.

Advances in understanding the molecular structure of retinoschisin while questions remain of biological function

J Bernard Heymann, Camasamudram Vijayasarathy, Robert N Fariss, Paul A Sieving

Prog Retin Eye Res. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Prog Retin Eye Res. 2023 Jul; 95: 101147. Published online 2022 Nov 16. doi: 10.1016/j.preteyeres.2022.101147

PMCID:: PMC10185713

Abstract Article PDF–2.4M

Select item 95837432.

Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors

Camasamudram Vijayasarathy, Yong Zeng, Dario Marangoni, Lijin Dong, Zhuo-Hua Pan, Elizabeth M. Simpson, Robert N. Fariss, Paul A. Sieving

Invest Ophthalmol Vis Sci. 2022 Oct; 63(11): 8. Published online 2022 Oct 13. doi: 10.1167/iovs.63.11.8

PMCID:: PMC9583743

Abstract Article PDF–5.5M

Select item 71558913.

Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis

Chunjie Chen, Yue Xie, Tengyang Sun, Lu Tian, Ke Xu, Xiaohui Zhang, Yang Li

Mol Vis. 2020; 26: 291–298. Published online 2020 Apr 11.

PMCID:: PMC7155891

Abstract Article PDF–1.9M

Select item 65435374.

Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked retinoschisis

Maria Fernanda Abalem, David C. Musch, David G. Birch, Mark E. Pennesi, John R. Heckenlively, Thiran Jayasundera

Ophthalmic Genet. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Ophthalmic Genet. 2018 Aug; 39(4): 437–442. Published online 2018 Jun 14. doi: 10.1080/13816810.2018.1466340

PMCID:: PMC6543537

Abstract Article PDF–241K

Select item 64005695.

Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina

J. Bernard Heymann, Camasamudram Vijayasarathy, Rick K. Huang, Altaira D. Dearborn, Paul A. Sieving, Alasdair C. Steven

J Cell Biol. 2019 Mar 4; 218(3): 1027–1038. doi: 10.1083/jcb.201806148

PMCID:: PMC6400569

Abstract Article PDF–1.9M

Select item 62335476.

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan

BMC Med Genet. 2018; 19: 195. Published online 2018 Nov 12. doi: 10.1186/s12881-018-0712-8

PMCID:: PMC6233547

Abstract Article PDF–4.8M

Select item 59788867.

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Dhandayuthapani Sudha, Srividya Neriyanuri, Ramya Sachidanandam, Srikrupa N. Natarajan, Mamatha Gandra, Arokiasamy Tharigopala, Muthukumaran Sivashanmugam, Mohammed Alameen, Umashankar Vetrivel, Lingam Gopal, Vikas Khetan, Rajiv Raman, Parveen Sen, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam

PLoS One. 2018; 13(5): e0198086. Published online 2018 May 31. doi: 10.1371/journal.pone.0198086

PMCID:: PMC5978886

Abstract Article PDF–9.4M

Select item 55317348.

Retinoschisin is linked to retinal Na/K-ATPase signaling and localization

Karolina Plössl, Melanie Royer, Sarah Bernklau, Neslihan N. Tavraz, Thomas Friedrich, Jens Wild, Bernhard H. F. Weber, Ulrike Friedrich

Mol Biol Cell. 2017 Aug 1; 28(16): 2178–2189. doi: 10.1091/mbc.E17-01-0064

PMCID:: PMC5531734

Abstract Article PDF–1.6M

Select item 54188349.

Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function

Ewan P. Ramsay, Richard F. Collins, Thomas W. Owens, C. Alistair Siebert, Richard P.O. Jones, Tao Wang, Alan M. Roseman, Clair Baldock

Hum Mol Genet. 2016 Dec 15; 25(24): 5311–5320. Published online 2016 Oct 23. doi: 10.1093/hmg/ddw345

PMCID:: PMC5418834

Abstract Article PDF–760K

Select item 491909310.

An ex vivo gene therapy approach in X-linked retinoschisis

Abu E. Bashar, Andrew L. Metcalfe, Ishaq A. Viringipurampeer, Anat Yanai, Cheryl Y. Gregory-Evans, Kevin Gregory-Evans

Mol Vis. 2016; 22: 718–733. Published online 2016 Jun 24.

PMCID:: PMC4919093

Abstract Article PDF–3.4M

Select item 427429111.

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family

Y Huang, L Mei, B Gui, W Su, D Liang, L Wu, Q Pan

Eye (Lond) 2014 Nov; 28(11): 1364–1369. Published online 2014 Aug 29. doi: 10.1038/eye.2014.196

Correction in:: Eye (Lond). 2014 Nov; 28(11): 1394.

PMCID:: PMC4274291

Abstract Article PDF–839K

Select item 392629712.

Genetic and clinical evaluation of juvenile retinoschisis

Judy E. Kim, Mark S. Ruttum, Matthew J. Koeberl, Eryn L. Hassemer, D. J. Sidjanin

J AAPOS. Author manuscript; available in PMC 2014 Feb 17.

Published in final edited form as: J AAPOS. 2009 Apr; 13(2): 215–217. doi: 10.1016/j.jaapos.2008.11.005

PMCID:: PMC3926297

Abstract Article PDF–1.4M

Select item 391348713.

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis

Jieqiong Chen, Ke Xu, Xiaohui Zhang, Zhe Pan, Bing Dong, Yang Li

Mol Vis. 2014; 20: 132–139. Published online 2014 Jan 31.

PMCID:: PMC3913487

Abstract Article PDF–2.2M

Select item 382043114.

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis

Leera D’Souza, Catherine Cukras, Christian Antolik, Candice Craig, Ji-Yun Lee, Hong He, Shibo Li, Nizar Smaoui, James F. Hejtmancik, Paul A. Sieving, Xinjing Wang

Mol Vis. 2013; 19: 2209–2216. Published online 2013 Nov 7.