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Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Among authors: vollrath d. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967. Invest Ophthalmol Vis Sci. 2013. PMID: 23462753
mTOR pathway activation in age-related retinal disease.
Zhao C, Vollrath D. Zhao C, et al. Among authors: vollrath d. Aging (Albany NY). 2011 Apr;3(4):346-7. doi: 10.18632/aging.100303. Aging (Albany NY). 2011. PMID: 21483039 Free PMC article. No abstract available.
PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Chen X, Rong W, Liu Y, Liu X, Pan X, Chen LJ, Zhao Q, Vollrath D, Pang CP, Zhao C. Chen X, et al. Among authors: vollrath d. Hum Mol Genet. 2014 Jun 1;23(11):2926-39. doi: 10.1093/hmg/ddu005. Epub 2014 Jan 12. Hum Mol Genet. 2014. PMID: 24419317
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa.
Liu Y, Chen X, Xu Q, Gao X, Tam PO, Zhao K, Zhang X, Chen LJ, Jia W, Zhao Q, Vollrath D, Pang CP, Zhao C. Liu Y, et al. Among authors: vollrath d. Sci Rep. 2015 Oct 13;5:14867. doi: 10.1038/srep14867. Sci Rep. 2015. PMID: 26459573 Free PMC article.
Abnormal mTORC1 signaling leads to retinal pigment epithelium degeneration.
Huang J, Gu S, Chen M, Zhang SJ, Jiang Z, Chen X, Jiang C, Liu G, Radu RA, Sun X, Vollrath D, Du J, Yan B, Zhao C. Huang J, et al. Among authors: vollrath d. Theranostics. 2019 Jan 30;9(4):1170-1180. doi: 10.7150/thno.26281. eCollection 2019. Theranostics. 2019. PMID: 30867823 Free PMC article.
Generation of Cre transgenic mice with postnatal RPE-specific ocular expression.
Iacovelli J, Zhao C, Wolkow N, Veldman P, Gollomp K, Ojha P, Lukinova N, King A, Feiner L, Esumi N, Zack DJ, Pierce EA, Vollrath D, Dunaief JL. Iacovelli J, et al. Among authors: vollrath d. Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1378-83. doi: 10.1167/iovs.10-6347. Print 2011 Mar. Invest Ophthalmol Vis Sci. 2011. PMID: 21212186 Free PMC article.
DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
Liu Y, Garrett ME, Yaspan BL, Bailey JC, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert JH, Gaasterland D, Gaasterland T, Kang JH, Lee RK, Lichter P, Moroi SE, Realini A, Richards JE, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Haines JL, Pasquale LR, Wiggs JL, Allingham RR, Ashley-Koch AE, Hauser MA. Liu Y, et al. Among authors: vollrath d. Invest Ophthalmol Vis Sci. 2014 Nov 20;55(12):8251-8. doi: 10.1167/iovs.14-15712. Invest Ophthalmol Vis Sci. 2014. PMID: 25414181 Free PMC article.
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 Free PMC article.
107 results