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Results: 1 to 20 of 115

1.

Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.

Tian R, Yang G, Wang J, Chen Y.

Mol Vis. 2014 Nov 11;20:1594-604. eCollection 2014.

PMID:
25489231
[PubMed - in process]
Free PMC Article
2.

Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.

Crowley C, Paterson R, Lamey T, McLaren T, De Roach J, Chelva E, Khan J.

Doc Ophthalmol. 2014 Aug;129(1):57-63. doi: 10.1007/s10633-014-9444-z. Epub 2014 May 24.

PMID:
24859690
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Multimodal analysis of the progression of Best vitelliform macular dystrophy.

Querques G, Zerbib J, Georges A, Massamba N, Forte R, Querques L, Rozet JM, Kaplan J, Souied EH.

Mol Vis. 2014 Apr 27;20:575-92. eCollection 2014.

PMID:
24791142
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Stoichiometry and specific assembly of Best ion channels.

Bharill S, Fu Z, Palty R, Isacoff EY.

Proc Natl Acad Sci U S A. 2014 Apr 29;111(17):6491-6. doi: 10.1073/pnas.1400248111. Epub 2014 Apr 18.

PMID:
24748110
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.

Zhou Y, Tao S, Chen H, Huang L, Zhu X, Li Y, Wang Z, Lin H, Hao F, Yang Z, Wang L, Zhu X.

PLoS One. 2014 Mar 14;9(3):e91962. doi: 10.1371/journal.pone.0091962. eCollection 2014.

PMID:
24632595
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.

Duncker T, Greenberg JP, Ramachandran R, Hood DC, Smith RT, Hirose T, Woods RL, Tsang SH, Delori FC, Sparrow JR.

Invest Ophthalmol Vis Sci. 2014 Mar 13;55(3):1471-82. doi: 10.1167/iovs.13-13834.

PMID:
24526438
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Anoctamin 1 mediates thermal pain as a heat sensor.

Cho H, Oh U.

Curr Neuropharmacol. 2013 Dec;11(6):641-51. doi: 10.2174/1570159X113119990038.

PMID:
24396339
[PubMed]
Free PMC Article
8.

Hereditary retinal eye diseases in childhood and youth affecting the central retina.

Nentwich MM, Rudolph G.

Oman J Ophthalmol. 2013 Sep;6(Suppl 1):S18-25. doi: 10.4103/0974-620X.122290. Review.

PMID:
24391367
[PubMed]
Free PMC Article
9.

Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells.

Ito G, Okamoto R, Murano T, Shimizu H, Fujii S, Nakata T, Mizutani T, Yui S, Akiyama-Morio J, Nemoto Y, Okada E, Araki A, Ohtsuka K, Tsuchiya K, Nakamura T, Watanabe M.

PLoS One. 2013 Nov 5;8(11):e79693. doi: 10.1371/journal.pone.0079693. eCollection 2013.

PMID:
24223998
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.

Guziewicz KE, Zangerl B, Komáromy AM, Iwabe S, Chiodo VA, Boye SL, Hauswirth WW, Beltran WA, Aguirre GD.

PLoS One. 2013 Oct 15;8(10):e75666. doi: 10.1371/journal.pone.0075666. eCollection 2013.

PMID:
24143172
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Modeling retinal degenerative diseases with human iPS-derived cells: current status and future implications.

Gamm DM, Phillips MJ, Singh R.

Expert Rev Ophthalmol. 2013 Jun 1;8(3):213-216. No abstract available.

PMID:
24039627
[PubMed]
Free PMC Article
12.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP.

Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.

PMID:
23993198
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.

Doumanov JA, Zeitz C, Dominguez Gimenez P, Audo I, Krishna A, Alfano G, Diaz ML, Moskova-Doumanova V, Lancelot ME, Sahel JA, Nandrot EF, Bhattacharya SS.

Int J Mol Sci. 2013 Jul 22;14(7):15121-40. doi: 10.3390/ijms140715121.

PMID:
23880862
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.

Johnson AA, Lee YS, Stanton JB, Yu K, Hartzell CH, Marmorstein LY, Marmorstein AD.

Hum Mol Genet. 2013 Dec 1;22(23):4688-97. doi: 10.1093/hmg/ddt316. Epub 2013 Jul 3.

PMID:
23825107
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Outer retinal structure in best vitelliform macular dystrophy.

Kay DB, Land ME, Cooper RF, Dubis AM, Godara P, Dubra A, Carroll J, Stepien KE.

JAMA Ophthalmol. 2013 Sep;131(9):1207-15. doi: 10.1001/jamaophthalmol.2013.387.

PMID:
23765342
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Multimodal imaging in hereditary retinal diseases.

Pichi F, Morara M, Veronese C, Nucci P, Ciardella AP.

J Ophthalmol. 2013;2013:634351. doi: 10.1155/2013/634351. Epub 2013 Apr 24.

PMID:
23710333
[PubMed]
Free PMC Article
17.

Human photoreceptor outer segments shorten during light adaptation.

Abràmoff MD, Mullins RF, Lee K, Hoffmann JM, Sonka M, Critser DB, Stasheff SF, Stone EM.

Invest Ophthalmol Vis Sci. 2013 May 1;54(5):3721-8. doi: 10.1167/iovs.13-11812.

PMID:
23633665
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Photosensitized oxidative stress to ARPE-19 cells decreases protein receptors that mediate photoreceptor outer segment phagocytosis.

Olchawa MM, Herrnreiter AM, Skumatz CM, Zareba M, Sarna TJ, Burke JM.

Invest Ophthalmol Vis Sci. 2013 Mar 28;54(3):2276-87. doi: 10.1167/iovs.12-11154.

PMID:
23449722
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Bestrophin-encoded Ca²⁺-activated Cl⁻ channels underlie a current with properties similar to the native current in the moth Spodoptera littoralis olfactory receptor neurons.

François A, Grauso M, Demondion E, Bozzolan F, Debernard S, Lucas P.

PLoS One. 2012;7(12):e52691. doi: 10.1371/journal.pone.0052691. Epub 2012 Dec 26.

PMID:
23300744
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.

Sodi A, Passerini I, Murro V, Caputo R, Bacci GM, Bodoj M, Torricelli F, Menchini U.

Mol Vis. 2012;18:2736-48. Epub 2012 Nov 17.

PMID:
23213274
[PubMed - indexed for MEDLINE]
Free PMC Article

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