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Items: 1 to 20 of 38

1.
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
AbstractArticlePDF–2.4M
2.
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
AbstractArticlePDF–1.9M
3.
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
AbstractArticlePDF–241K
4.
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
AbstractArticlePDF–1.9M
5.
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
AbstractArticlePDF–4.8M
6.
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
AbstractArticlePDF–9.4M
7.
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
AbstractArticlePDF–760K
8.
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
AbstractArticlePDF–3.4M
9.
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
AbstractArticlePDF–839K
10.
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
AbstractArticlePDF–1.4M
11.
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
AbstractArticlePDF–2.2M
12.
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.
PMCID:
PMC3820431
AbstractArticlePDF–998K
13.
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes
Yuri V. Sergeev, Susan Vitale, Paul A. Sieving, Ajoy Vincent, Anthony G. Robson, Anthony T. Moore, Andrew R. Webster, Graham E. Holder
Hum Mol Genet. 2013 Dec 1; 22(23): 4756–4767. Published online 2013 Jul 11. doi: 10.1093/hmg/ddt329
PMCID:
PMC3820135
AbstractArticlePDF–1.3M
14.
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis
Anna Skorczyk, Maciej R. Krawczyński
Mol Vis. 2012; 18: 3004–3012. Published online 2012 Dec 13.
PMCID:
PMC3534142
AbstractArticlePDF–1.2M
15.
Abnormal Cone Structure in Foveal Schisis Cavities in X-Linked Retinoschisis from Mutations in Exon 6 of the RS1 Gene
Jacque L. Duncan, Kavitha Ratnam, David G. Birch, Sanna M. Sundquist, Anna S. Lucero, Yuhua Zhang, Meira Meltzer, Nizar Smaoui, Austin Roorda
Invest Ophthalmol Vis Sci. 2011 Dec; 52(13): 9614–9623. Published online 2011 Dec 20. doi: 10.1167/iovs.11-8600
PMCID:
PMC3341122
AbstractArticlePDF–2.6M
16.
X-Linked Retinoschisis: RS1 Mutation Severity and Age Affect the ERG Phenotype in a Cohort of 68 Affected Male Subjects
Kristen Bowles, Catherine Cukras, Amy Turriff, Yuri Sergeev, Susan Vitale, Ronald A. Bush, Paul A. Sieving
Invest Ophthalmol Vis Sci. 2011 Nov; 52(12): 9250–9256. Published online 2011 Nov 29. doi: 10.1167/iovs.11-8115
PMCID:
PMC3302432
AbstractArticlePDF–1.0M
17.
Regulation of Retinoschisin Secretion in Weri-Rb1 Cells by the F-Actin and Microtubule Cytoskeleton
Eiko Kitamura, Yekaterina E. Gribanova, Debora B. Farber
PLoS One. 2011; 6(6): e20707. Published online 2011 Jun 27. doi: 10.1371/journal.pone.0020707
PMCID:
PMC3124475
AbstractArticlePDF–1.5M
18.
Long-term 12 year follow-up of X-linked congenital retinoschisis
Sten Kjellström, Camasamudram Vijayasarathy, Vesna Ponjavic, Paul A. Sieving, Sten Andréasson
Ophthalmic Genet. Author manuscript; available in PMC 2010 Dec 6.
Published in final edited form as: Ophthalmic Genet. 2010 Sep; 31(3): 114–125. doi: 10.3109/13816810.2010.482555
PMCID:
PMC2997439
AbstractArticlePDF–2.8M
19.
Molecular Mechanisms Leading to Null-protein Product from Retinoschisin (RS1) Signal-sequence Mutants in X-linked Retinoschisis (XLRS) Disease
Camasamudram Vijayasarathy, Ruifang Sui, Yong Zeng, Guoxing Yang, Fei Xu, Rafael C. Caruso, Richard A. Lewis, Lucia Ziccardi, Paul A. Sieving
Hum Mutat. Author manuscript; available in PMC 2011 Nov 1.
Published in final edited form as: Hum Mutat. 2010 Nov; 31(11): 1251–1260. doi: 10.1002/humu.21350
PMCID:
PMC2991635
AbstractArticlePDF–1.1M
20.
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family
Jun Xu, Hong Gu, Kai Ma, Xipu Liu, Torkel Snellingen, Erdan Sun, Ningli Wang, Ningpu Liu
Mol Vis. 2010; 16: 1593–1600. Published online 2010 Aug 12.
PMCID:
PMC2927431
AbstractArticlePDF–2.3M

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