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Myocilin mutations in black South Africans with POAG.
Whigham BT, Williams SE, Liu Y, Rautenbach RM, Carmichael TR, Wheeler J, Ziskind A, Qin X, Schmidt S, Ramsay M, Hauser MA, Allingham RR. Whigham BT, et al. Among authors: carmichael tr. Mol Vis. 2011 Apr 27;17:1064-9. Mol Vis. 2011. PMID: 21552496 Free PMC article.
The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.
Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, Rautenbach RM, Ziskind A, Williams SE, Carmichael TR, Ramsay M, Topouzis F, Chatzikyriakidou A, Lambropoulos A, Sundaresan P, Ayub H, Akhtar F, Qamar R, Zenteno JC, Cruz-Aguilar M, Astakhov YS, Dubina M, Wiggs J, Ozaki M, Kruse FE, Aung T, Reis A, Khor CC, Pasutto F, Schlötzer-Schrehardt U. Berner D, et al. Among authors: carmichael tr. Hum Mol Genet. 2019 Aug 1;28(15):2531-2548. doi: 10.1093/hmg/ddz075. Hum Mol Genet. 2019. PMID: 30986821 Free PMC article.
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.
Genetics of Glaucoma in People of African Descent (GGLAD) Consortium; Hauser MA, Allingham RR, Aung T, Van Der Heide CJ, Taylor KD, Rotter JI, Wang SJ, Bonnemaijer PWM, Williams SE, Abdullahi SM, Abu-Amero KK, Anderson MG, Akafo S, Alhassan MB, Asimadu I, Ayyagari R, Bakayoko S, Nyamsi PB, Bowden DW, Bromley WC, Budenz DL, Carmichael TR, Challa P, Chen YI, Chuka-Okosa CM, Cooke Bailey JN, Costa VP, Cruz DA, DuBiner H, Ervin JF, Feldman RM, Flamme-Wiese M, Gaasterland DE, Garnai SJ, Girkin CA, Guirou N, Guo X, Haines JL, Hammond CJ, Herndon L, Hoffmann TJ, Hulette CM, Hydara A, Igo RP Jr, Jorgenson E, Kabwe J, Kilangalanga NJ, Kizor-Akaraiwe N, Kuchtey RW, Lamari H, Li Z, Liebmann JM, Liu Y, Loos RJF, Melo MB, Moroi SE, Msosa JM, Mullins RF, Nadkarni G, Napo A, Ng MCY, Nunes HF, Obeng-Nyarkoh E, Okeke A, Okeke S, Olaniyi O, Olawoye O, Oliveira MB, Pasquale LR, Perez-Grossmann RA, Pericak-Vance MA, Qin X, Ramsay M, Resnikoff S, Richards JE, Schimiti RB, Sim KS, Sponsel WE, Svidnicki PV, Thiadens AAHJ, Uche NJ, van Duijn CM, de Vasconcellos JPC, Wiggs JL, Zangwill LM, Risch N, Milea D, Ashaye A, Klaver CCW, Weinreb RN, Ashley Koch AE, Fingert JH, Khor CC. Genetics of Glaucoma in People of African Descent (GGLAD) Consortium, et al. Among authors: carmichael tr. JAMA. 2019 Nov 5;322(17):1682-1691. doi: 10.1001/jama.2019.16161. JAMA. 2019. PMID: 31688885 Free PMC article.
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.
Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, Williams A, Santiago-Turla C, Qin X, Rautenbach RM, Ziskind A, Ramsay M, Uebe S, Song L, Safi A, Vithana EN, Mizoguchi T, Nakano S, Kubota T, Hayashi K, Manabe S, Kazama S, Mori Y, Miyata K, Yoshimura N, Reis A, Crawford GE, Pasutto F, Carmichael TR, Williams SE, Ozaki M, Aung T, Khor CC, Stamer WD, Ashley-Koch AE, Allingham RR. Hauser MA, et al. Among authors: carmichael tr. Hum Mol Genet. 2015 Nov 15;24(22):6552-63. doi: 10.1093/hmg/ddv347. Epub 2015 Aug 25. Hum Mol Genet. 2015. PMID: 26307087 Free PMC article.
47 results