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Items: 1 to 20 of 102

1.

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM.

PLoS Genet. 2012;8(10):e1003001. doi: 10.1371/journal.pgen.1003001. Epub 2012 Oct 4.

2.

Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.

Bassuk AG, Yeh S, Wu S, Martin DF, Tsang SH, Gakhar L, Mahajan VB.

PLoS One. 2015 Apr 9;10(4):e0122352. doi: 10.1371/journal.pone.0122352. eCollection 2015.

3.

Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.

Wert KJ, Skeie JM, Bassuk AG, Olivier AK, Tsang SH, Mahajan VB.

Hum Mol Genet. 2014 May 15;23(10):2665-77. doi: 10.1093/hmg/ddt661. Epub 2013 Dec 30.

4.

CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model.

Wert KJ, Bassuk AG, Wu WH, Gakhar L, Coglan D, Mahajan M, Wu S, Yang J, Lin CS, Tsang SH, Mahajan VB.

Hum Mol Genet. 2015 Aug 15;24(16):4584-98. doi: 10.1093/hmg/ddv189. Epub 2015 May 20.

5.

Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.

Gakhar L, Bassuk AG, Velez G, Khan S, Yang J, Tsang SH, Mahajan VB.

J Struct Biol. 2016 Dec;196(3):309-318. doi: 10.1016/j.jsb.2016.07.017. Epub 2016 Jul 27.

6.

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

Mooy CM, Van Den Born LI, Baarsma S, Paridaens DA, Kraaijenbrink T, Bergen A, Weber BH.

Arch Ophthalmol. 2002 Jul;120(7):979-84. No abstract available.

PMID:
12096974
7.

Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.

Randazzo NM MBBCh BSc Hons, Shanks ME PhD, Clouston P PhD FRCPath, MacLaren RE Mb ChB DPhil FRCOphth.

Ocul Immunol Inflamm. 2017 Oct 17:1-6. doi: 10.1080/09273948.2017.1370651. [Epub ahead of print]

PMID:
29040051
8.

Recent advances in the molecular basis of inherited photoreceptor degeneration.

Clarke G, Héon E, McInnes RR.

Clin Genet. 2000 May;57(5):313-29. Review.

PMID:
10852366
9.

Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.

Mahajan VB, Lin JH.

Clin Ophthalmol. 2013;7:1339-45. doi: 10.2147/OPTH.S46450. Epub 2013 Jul 3.

10.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.

Mol Genet Metab. 2000 Jun;70(2):142-50.

PMID:
10873396
11.

Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.

Milam AH, Curcio CA, Cideciyan AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG.

Ophthalmology. 2000 Dec;107(12):2256-66.

PMID:
11097607
12.

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

Johnson AA, Lee YS, Chadburn AJ, Tammaro P, Manson FD, Marmorstein LY, Marmorstein AD.

Exp Eye Res. 2014 Apr;121:74-85. doi: 10.1016/j.exer.2014.02.006. Epub 2014 Feb 19. Erratum in: Exp Eye Res. 2014 Oct;127:300.

13.

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.

Mol Vis. 2005 Feb 28;11:152-62.

14.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC.

Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005.

15.

Inhibitory peptide of mitochondrial μ-calpain protects against photoreceptor degeneration in rhodopsin transgenic S334ter and P23H rats.

Ozaki T, Ishiguro S, Hirano S, Baba A, Yamashita T, Tomita H, Nakazawa M.

PLoS One. 2013 Aug 9;8(8):e71650. doi: 10.1371/journal.pone.0071650. eCollection 2013. Erratum in: PLoS One. 2013;8(9). doi:10.1371/annotation/7a8aaf1d-e968-4b39-abb0-867d6078b2af.

16.

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP.

Nat Genet. 1999 Jul;22(3):248-54.

PMID:
10391211
17.

A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

Sokal I, Dupps WJ, Grassi MA, Brown J Jr, Affatigato LM, Roychowdhury N, Yang L, Filipek S, Palczewski K, Stone EM, Baehr W.

Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1124-32.

18.

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

Kelsell RE, Godley BF, Evans K, Tiffin PA, Gregory CY, Plant C, Moore AT, Bird AC, Hunt DM.

Hum Mol Genet. 1995 Sep;4(9):1653-6.

PMID:
8541856
19.

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.

Nat Genet. 1993 Mar;3(3):213-8.

PMID:
8485576
20.

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.

Rowell HA, Bassuk AG, Mahajan VB.

Clin Ophthalmol. 2012;6:2037-44. doi: 10.2147/OPTH.S40086. Epub 2012 Dec 6.

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