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Results: 1 to 20 of 23

1.

In-depth mass spectrometric mapping of the human vitreous proteome.

Aretz S, Krohne TU, Kammerer K, Warnken U, Hotz-Wagenblatt A, Bergmann M, Stanzel BV, Kempf T, Holz FG, Schnölzer M, Kopitz J.

Proteome Sci. 2013 May 20;11(1):22. doi: 10.1186/1477-5956-11-22.

PMID:
23688336
[PubMed]
Free PMC Article
2.

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Skorczyk A, Krawczyński MR.

Mol Vis. 2012;18:3004-12. Epub 2012 Dec 13.

PMID:
23288992
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Molday RS, Kellner U, Weber BH.

Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 Jan 3. Review.

PMID:
22245536
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteins.

Mercer AJ, Thoreson WB.

Vis Neurosci. 2011 Nov;28(6):453-71. doi: 10.1017/S0952523811000356. Review.

PMID:
22192503
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A.

Invest Ophthalmol Vis Sci. 2011 Dec 20;52(13):9614-23. doi: 10.1167/iovs.11-8600.

PMID:
22110067
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Regulation of retinoschisin secretion in Weri-Rb1 cells by the F-actin and microtubule cytoskeleton.

Kitamura E, Gribanova YE, Farber DB.

PLoS One. 2011;6(6):e20707. doi: 10.1371/journal.pone.0020707. Epub 2011 Jun 27.

PMID:
21738583
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype.

Khandhadia S, Trump D, Menon G, Lotery AJ.

Eye (Lond). 2011 Jul;25(7):922-8. doi: 10.1038/eye.2011.91. Epub 2011 Apr 29.

PMID:
21527955
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N.

Mol Vis. 2010 Aug 12;16:1593-600.

PMID:
20806044
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes.

Coleman JA, Kwok MC, Molday RS.

J Biol Chem. 2009 Nov 20;284(47):32670-9. doi: 10.1074/jbc.M109.047415. Epub 2009 Sep 24.

PMID:
19778899
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Circadian regulation of ion channels and their functions.

Ko GY, Shi L, Ko ML.

J Neurochem. 2009 Aug;110(4):1150-69. doi: 10.1111/j.1471-4159.2009.06223.x. Epub 2009 Jun 15. Review.

PMID:
19549279
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5375-83. doi: 10.1167/iovs.09-3839. Epub 2009 May 27.

PMID:
19474399
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Retinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain OCT.

Genead MA, Pasadhika S, Fishman GA.

Eye (Lond). 2009 May;23(5):1019-27. doi: 10.1038/eye.2009.53. Epub 2009 Apr 17.

PMID:
19373267
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Lesch B, Szabó V, Kánya M, Somfai GM, Vámos R, Varsányi B, Pámer Z, Knézy K, Salacz G, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A.

Mol Vis. 2008;14:2321-32. Epub 2008 Dec 12.

PMID:
19093009
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.

Shi L, Jian K, Ko ML, Trump D, Ko GY.

J Biol Chem. 2009 Feb 6;284(6):3966-75. doi: 10.1074/jbc.M806333200. Epub 2008 Dec 11.

PMID:
19074145
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene.

Langmann T, Lai CC, Weigelt K, Tam BM, Warneke-Wittstock R, Moritz OL, Weber BH.

Nucleic Acids Res. 2008 Nov;36(20):6523-34. doi: 10.1093/nar/gkn737. Epub 2008 Oct 16.

PMID:
18927113
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

Mol Vis. 2008 Aug 25;14:1549-58.

PMID:
18728755
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.

Dyka FM, Wu WW, Pfeifer TA, Molday LL, Grigliatti TA, Molday RS.

Biochemistry. 2008 Sep 2;47(35):9098-106. doi: 10.1021/bi800938g. Epub 2008 Aug 9.

PMID:
18690710
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Circadian regulation of retinoschisin in the chick retina.

Ko ML, Liu Y, Shi L, Trump D, Ko GY.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1615-21. doi: 10.1167/iovs.07-1189.

PMID:
18385082
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Expression profiling after retinal detachment and reattachment: a possible role for aquaporin-0.

Farjo R, Peterson WM, Naash MI.

Invest Ophthalmol Vis Sci. 2008 Feb;49(2):511-21. doi: 10.1167/iovs.07-1013.

PMID:
18234993
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.

Suganthalakshmi B, Shukla D, Rajendran A, Kim R, Nallathambi J, Sundaresan P.

Mol Vis. 2007 Apr 19;13:611-7.

PMID:
17515881
[PubMed - indexed for MEDLINE]
Free PMC Article

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