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A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, Li X, Choquet H, Habeeb M, Lucas SEM, Sahebjada S, Pontikos N, Lopez KER, Khawaja AP, Ali M, Dudakova L, Skalicka P, Van Dooren BTH, Geerards AJM, Haudum CW, Faro VL, Tenen A, Simcoe MJ, Patasova K, Yarrand D, Yin J, Siddiqui S, Rice A, Farraj LA, Chen YI, Rahi JS, Krauss RM, Theusch E, Charlesworth JC, Szczotka-Flynn L, Toomes C, Meester-Smoor MA, Richardson AJ, Mitchell PA, Taylor KD, Melles RB, Aldave AJ, Mills RA, Cao K, Chan E, Daniell MD, Wang JJ, Rotter JI, Hewitt AW, MacGregor S, Klaver CCW, Ramdas WD, Craig JE, Iyengar SK, O'Brart D, Jorgenson E, Baird PN, Rabinowitz YS, Burdon KP, Hammond CJ, Tuft SJ, Hysi PG. Hardcastle AJ, et al. Among authors: aldave aj. Commun Biol. 2021 Mar 1;4(1):266. doi: 10.1038/s42003-021-01784-0. Commun Biol. 2021. PMID: 33649486 Free PMC article.
No VSX1 gene mutations associated with keratoconus.
Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. Aldave AJ, et al. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):2820-2. doi: 10.1167/iovs.05-1530. Invest Ophthalmol Vis Sci. 2006. PMID: 16799019
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
Burdon KP, Macgregor S, Bykhovskaya Y, Javadiyan S, Li X, Laurie KJ, Muszynska D, Lindsay R, Lechner J, Haritunians T, Henders AK, Dash D, Siscovick D, Anand S, Aldave A, Coster DJ, Szczotka-Flynn L, Mills RA, Iyengar SK, Taylor KD, Phillips T, Montgomery GW, Rotter JI, Hewitt AW, Sharma S, Rabinowitz YS, Willoughby C, Craig JE. Burdon KP, et al. Invest Ophthalmol Vis Sci. 2011 Oct 31;52(11):8514-9. doi: 10.1167/iovs.11-8261. Invest Ophthalmol Vis Sci. 2011. PMID: 22003120 Free PMC article.
A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability.
Louttit MD, Kopplin LJ, Igo RP Jr, Fondran JR, Tagliaferri A, Bardenstein D, Aldave AJ, Croasdale CR, Price MO, Rosenwasser GO, Lass JH, Iyengar SK; FECD Genetics Multi-Center Study Group. Louttit MD, et al. Among authors: aldave aj. Cornea. 2012 Jan;31(1):26-35. doi: 10.1097/ICO.0b013e31821c9b8f. Cornea. 2012. PMID: 22045388 Free PMC article.
Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
Igo RP Jr, Kopplin LJ, Joseph P, Truitt B, Fondran J, Bardenstein D, Aldave AJ, Croasdale CR, Price MO, Rosenwasser M, Lass JH, Iyengar SK; FECD Genetics Multi-center Study Group. Igo RP Jr, et al. Among authors: aldave aj. PLoS One. 2012;7(10):e46742. doi: 10.1371/journal.pone.0046742. Epub 2012 Oct 23. PLoS One. 2012. PMID: 23110055 Free PMC article.
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA; Consortium for Refractive Error and Myopia (CREAM); Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group; Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W; Wellcome Trust Case Control Consortium 2 (WTCCC2); Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK; Fuchs' Genetics Multi-Center Study Group; Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG… See abstract for full author list ➔ Verhoeven VJ, et al. Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396134 Free PMC article.
An association between the calpastatin (CAST) gene and keratoconus.
Li X, Bykhovskaya Y, Tang YG, Picornell Y, Haritunians T, Aldave AJ, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. Li X, et al. Among authors: aldave aj. Cornea. 2013 May;32(5):696-701. doi: 10.1097/ICO.0b013e3182821c1c. Cornea. 2013. PMID: 23449483 Free PMC article.
212 results