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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: davidson ae. Commun Biol. 2021 Mar 1;4(1):266. doi: 10.1038/s42003-021-01784-0. Commun Biol. 2021. PMID: 33649486 Free PMC article.
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Poulter JA, Davidson AE, Ali M, Gilmour DF, Parry DA, Mintz-Hittner HA, Carr IM, Bottomley HM, Long VW, Downey LM, Sergouniotis PI, Wright GA, MacLaren RE, Moore AT, Webster AR, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: davidson ae. Invest Ophthalmol Vis Sci. 2012 May 14;53(6):2873-9. doi: 10.1167/iovs.11-8629. Invest Ophthalmol Vis Sci. 2012. PMID: 22427576
The pathogenesis of keratoconus.
Davidson AE, Hayes S, Hardcastle AJ, Tuft SJ. Davidson AE, et al. Eye (Lond). 2014 Feb;28(2):189-95. doi: 10.1038/eye.2013.278. Epub 2013 Dec 20. Eye (Lond). 2014. PMID: 24357835 Free PMC article. Review.
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ. Davidson AE, et al. PLoS One. 2014 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163. eCollection 2014. PLoS One. 2014. PMID: 25093588 Free PMC article.
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.
Liskova P, Evans CJ, Davidson AE, Zaliova M, Dudakova L, Trkova M, Stranecky V, Carnt N, Plagnol V, Vincent AL, Tuft SJ, Hardcastle AJ. Liskova P, et al. Among authors: davidson ae. Eur J Hum Genet. 2016 Jul;24(7):985-91. doi: 10.1038/ejhg.2015.232. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508574 Free PMC article.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749309 Free PMC article.
98 results