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An update on the genetics of ocular coloboma.

ALSomiry AS, Gregory-Evans CY, Gregory-Evans K.

Hum Genet. 2019 Sep;138(8-9):865-880. doi: 10.1007/s00439-019-02019-3. Epub 2019 May 9. Review.


Prospects and modalities for the treatment of genetic ocular anomalies.

Gregory-Evans CY, Wang X, Gregory-Evans K.

Hum Genet. 2019 Sep;138(8-9):1019-1026. doi: 10.1007/s00439-018-01968-5. Epub 2019 Jan 2. Review.


Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Reilly ML, Stokman MF, Magry V, Jeanpierre C, Alves M, Paydar M, Hellinga J, Delous M, Pouly D, Failler M, Martinovic J, Loeuillet L, Leroy B, Tantau J, Roume J, Gregory-Evans CY, Shan X, Filges I, Allingham JS, Kwok BH, Saunier S, Giles RH, Benmerah A.

Hum Mol Genet. 2019 Mar 1;28(5):778-795. doi: 10.1093/hmg/ddy381.


Animal models of amyotrophic lateral sclerosis: A comparison of model validity.

Morrice JR, Gregory-Evans CY, Shaw CA.

Neural Regen Res. 2018 Dec;13(12):2050-2054. doi: 10.4103/1673-5374.241445. Review.


Cell Death Pathways in Mutant Rhodopsin Rat Models Identifies Genotype-Specific Targets Controlling Retinal Degeneration.

Viringipurampeer IA, Gregory-Evans CY, Metcalfe AL, Bashar E, Moritz OL, Gregory-Evans K.

Mol Neurobiol. 2019 Mar;56(3):1637-1652. doi: 10.1007/s12035-018-1192-8. Epub 2018 Jun 18.


Anolis carolinensis as a model to understand the molecular and cellular basis of foveal development.

Sannan NS, Shan X, Gregory-Evans K, Kusumi K, Gregory-Evans CY.

Exp Eye Res. 2018 Aug;173:138-147. doi: 10.1016/j.exer.2018.05.012. Epub 2018 May 15.


Modeling Environmentally-Induced Motor Neuron Degeneration in Zebrafish.

Morrice JR, Gregory-Evans CY, Shaw CA.

Sci Rep. 2018 Mar 20;8(1):4890. doi: 10.1038/s41598-018-23018-w.


Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.

Sannan NS, Gregory-Evans CY, Lyons CJ, Lehman AM, Langlois S, Warner SJ, Zakrzewski H, Gregory-Evans K.

Can J Ophthalmol. 2017 Dec;52(6):570-577. doi: 10.1016/j.jcjo.2017.04.006. Epub 2017 Jul 6.


Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia.

Wang X, Gregory-Evans K, Wasan KM, Sivak O, Shan X, Gregory-Evans CY.

Mol Ther Nucleic Acids. 2017 Jun 16;7:417-428. doi: 10.1016/j.omtn.2017.05.002. Epub 2017 May 8.


Discovery and characterization of small molecules targeting the DNA-binding ETS domain of ERG in prostate cancer.

Butler MS, Roshan-Moniri M, Hsing M, Lau D, Kim A, Yen P, Mroczek M, Nouri M, Lien S, Axerio-Cilies P, Dalal K, Yau C, Ghaidi F, Guo Y, Yamazaki T, Lawn S, Gleave ME, Gregory-Evans CY, McIntosh LP, Cox ME, Rennie PS, Cherkasov A.

Oncotarget. 2017 Jun 27;8(26):42438-42454. doi: 10.18632/oncotarget.17124.


Neuropilin-1 is upregulated in the adaptive response of prostate tumors to androgen-targeted therapies and is prognostic of metastatic progression and patient mortality.

Tse BWC, Volpert M, Ratther E, Stylianou N, Nouri M, McGowan K, Lehman ML, McPherson SJ, Roshan-Moniri M, Butler MS, Caradec J, Gregory-Evans CY, McGovern J, Das R, Takhar M, Erho N, Alshalafa M, Davicioni E, Schaeffer EM, Jenkins RB, Ross AE, Karnes RJ, Den RB, Fazli L, Gregory PA, Gleave ME, Williams ED, Rennie PS, Buttyan R, Gunter JH, Selth LA, Russell PJ, Nelson CC, Hollier BG.

Oncogene. 2017 Jun 15;36(24):3417-3427. doi: 10.1038/onc.2016.482. Epub 2017 Jan 16.


Necroptosis in amyotrophic lateral sclerosis and other neurological disorders.

Morrice JR, Gregory-Evans CY, Shaw CA.

Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):347-353. doi: 10.1016/j.bbadis.2016.11.025. Epub 2016 Nov 27. Review.


A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye.

Wang X, Shan X, Gregory-Evans CY.

Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):60-67. doi: 10.1016/j.bbadis.2016.10.018. Epub 2016 Oct 20.


Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowicz I, Alcantara D, Dunham C, Wen J, Wildin RS, Nowaczyk MJ, Eichmeyer J, Lehman A, Maranda B, Martell S, Shan X, Lewis SM, O'Driscoll M, Gregory-Evans CY, Rajcan-Separovic E.

JCI Insight. 2016 Mar 17;1(3):e85461. doi: 10.1172/jci.insight.85461.


An ex vivo gene therapy approach in X-linked retinoschisis.

Bashar AE, Metcalfe AL, Viringipurampeer IA, Yanai A, Gregory-Evans CY, Gregory-Evans K.

Mol Vis. 2016 Jun 24;22:718-33. eCollection 2016.


NLRP3 inflammasome activation drives bystander cone photoreceptor cell death in a P23H rhodopsin model of retinal degeneration.

Viringipurampeer IA, Metcalfe AL, Bashar AE, Sivak O, Yanai A, Mohammadi Z, Moritz OL, Gregory-Evans CY, Gregory-Evans K.

Hum Mol Genet. 2016 Apr 15;25(8):1501-16. doi: 10.1093/hmg/ddw029. Epub 2016 Feb 7.


Enhanced functional integration of human photoreceptor precursors into human and rodent retina in an ex vivo retinal explant model system.

Yanai A, Laver CR, Gregory-Evans CY, Liu RR, Gregory-Evans K.

Tissue Eng Part A. 2015 Jun;21(11-12):1763-71. doi: 10.1089/ten.TEA.2014.0669. Epub 2015 Mar 24.


Nonsense suppression therapies in ocular genetic diseases.

Wang X, Gregory-Evans CY.

Cell Mol Life Sci. 2015 May;72(10):1931-8. doi: 10.1007/s00018-015-1843-0. Epub 2015 Feb 5. Review.


Rip3 knockdown rescues photoreceptor cell death in blind pde6c zebrafish.

Viringipurampeer IA, Shan X, Gregory-Evans K, Zhang JP, Mohammadi Z, Gregory-Evans CY.

Cell Death Differ. 2014 May;21(5):665-75. doi: 10.1038/cdd.2013.191. Epub 2014 Jan 10.


Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects.

Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K.

J Clin Invest. 2014 Jan;124(1):111-6. doi: 10.1172/JCI70462. Epub 2013 Dec 20.


Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM.

Clin Genet. 2014 Sep;86(3):220-8. doi: 10.1111/cge.12301. Epub 2013 Nov 18.


Targeting inflammation in emerging therapies for genetic retinal disease.

Viringipurampeer IA, Bashar AE, Gregory-Evans CY, Moritz OL, Gregory-Evans K.

Int J Inflam. 2013;2013:581751. doi: 10.1155/2013/581751. Epub 2013 Feb 21.


Differentiation of human embryonic stem cells using size-controlled embryoid bodies and negative cell selection in the production of photoreceptor precursor cells.

Yanai A, Laver CR, Joe AW, Viringipurampeer IA, Wang X, Gregory-Evans CY, Gregory-Evans K.

Tissue Eng Part C Methods. 2013 Oct;19(10):755-64. doi: 10.1089/ten.TEC.2012.0524. Epub 2013 Mar 15.


Influence of Iron Oxide Nanoparticles on Innate and Genetically Modified Secretion Profiles of Mesenchymal Stem Cells.

Bashar AE, Metcalfe A, Yanai A, Laver C, Häfeli UO, Gregory-Evans CY, Moritz OL, Matsubara JA, Gregory-Evans K.

IEEE Trans Magn. 2013 Jan 1;49(1):389-393.


Gene networks: dissecting pathways in retinal development and disease.

Gregory-Evans CY, Wallace VA, Gregory-Evans K.

Prog Retin Eye Res. 2013 Mar;33:40-66. doi: 10.1016/j.preteyeres.2012.10.003. Epub 2012 Nov 2. Review.


Focused magnetic stem cell targeting to the retina using superparamagnetic iron oxide nanoparticles.

Yanai A, Häfeli UO, Metcalfe AL, Soema P, Addo L, Gregory-Evans CY, Po K, Shan X, Moritz OL, Gregory-Evans K.

Cell Transplant. 2012;21(6):1137-48. doi: 10.3727/096368911X627435. Epub 2012 Mar 8.


Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.

Viringipurampeer IA, Ferreira T, DeMaria S, Yoon JJ, Shan X, Moosajee M, Gregory-Evans K, Ngai J, Gregory-Evans CY.

Hum Mol Genet. 2012 May 15;21(10):2357-69. doi: 10.1093/hmg/dds056. Epub 2012 Feb 21.


Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.

Schmouth JF, Banks KG, Mathelier A, Gregory-Evans CY, Castellarin M, Holt RA, Gregory-Evans K, Wasserman WW, Simpson EM.

Mol Cell Biol. 2012 Apr;32(7):1296-311. doi: 10.1128/MCB.06016-11. Epub 2012 Jan 30.


Zebrafish: a model system for the investigation of novel treatments for retinal disease.

Gregory-Evans CY.

Adv Exp Med Biol. 2012;723:399-405. doi: 10.1007/978-1-4614-0631-0_51. Review. No abstract available.


Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene.

McKeone R, Vieira H, Gregory-Evans K, Gregory-Evans CY, Denny P.

PLoS One. 2011;6(10):e25489. doi: 10.1371/journal.pone.0025489. Epub 2011 Oct 13.


Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.

Gregory-Evans K, Cheong-Leen R, George SM, Xie J, Moosajee M, Colapinto P, Gregory-Evans CY.

Can J Ophthalmol. 2011 Aug;46(4):337-44. doi: 10.1016/j.jcjo.2011.06.011. Epub 2011 Jul 7.


Pharmacological enhancement of ex vivo gene therapy neuroprotection in a rodent model of retinal degeneration.

Gregory-Evans K, Po K, Chang F, Gregory-Evans CY.

Ophthalmic Res. 2012;47(1):32-8. doi: 10.1159/000325730. Epub 2011 Jun 21.


Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma.

Gregory-Evans CY, Moosajee M, Shan X, Gregory-Evans K.

Mol Vis. 2011;17:1473-84. Epub 2011 Jun 4.


Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.

Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB, Seabra MC.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):3009-16. doi: 10.1167/iovs.08-2755. Epub 2008 Dec 30.


Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.

Moosajee M, Gregory-Evans K, Ellis CD, Seabra MC, Gregory-Evans CY.

Hum Mol Genet. 2008 Dec 15;17(24):3987-4000. doi: 10.1093/hmg/ddn302. Epub 2008 Sep 22.


Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.

Guerin K, Gregory-Evans CY, Hodges MD, Moosajee M, Mackay DS, Gregory-Evans K, Flannery JG.

Exp Eye Res. 2008 Sep;87(3):197-207. doi: 10.1016/j.exer.2008.05.016. Epub 2008 Jun 3.


SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K.

Hum Mol Genet. 2007 Oct 15;16(20):2482-93. Epub 2007 Jul 25.


Ocular coloboma: a reassessment in the age of molecular neuroscience.

Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.

J Med Genet. 2004 Dec;41(12):881-91. Review.


Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Salt A, Gregory-Evans K.

Am J Med Genet A. 2004 Nov 15;131(1):86-90.


Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF.

Am J Hum Genet. 2004 Apr;74(4):721-30. Epub 2004 Mar 11.


Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment.

Atan D, Gregory Evans CY, Louis D, Downes SM.

Br J Ophthalmol. 2004 Mar;88(3):440-1. No abstract available.


Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina.

Blackburn J, Tarttelin EE, Gregory-Evans CY, Moosajee M, Gregory-Evans K.

Invest Ophthalmol Vis Sci. 2003 Nov;44(11):4613-21.


Gene structure and tissue expression of human selenoprotein W, SEPW1, and identification of a retroprocessed pseudogene, SEPW1P.

Bellingham J, Gregory-Evans K, Fox MF, Gregory-Evans CY.

Biochim Biophys Acta. 2003 Jun 19;1627(2-3):140-6.


Successful photodynamic therapy for subretinal neovascularisation due to Sorsby's fundus dystrophy: 1 year follow up.

Wong SC, Fong KC, Lee N, Gregory-Evans K, Gregory-Evans CY.

Br J Ophthalmol. 2003 Jun;87(6):796-7. No abstract available.


Expression of opsin genes early in ocular development of humans and mice.

Tarttelin EE, Bellingham J, Bibb LC, Foster RG, Hankins MW, Gregory-Evans K, Gregory-Evans CY, Wells DJ, Lucas RJ.

Exp Eye Res. 2003 Mar;76(3):393-6.


Characterization of the genomic and transcriptional structure of the CRX gene: substantial differences between human and mouse.

Hodges MD, Vieira H, Gregory-Evans K, Gregory-Evans CY.

Genomics. 2002 Nov;80(5):531-42.


First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.

Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY.

Invest Ophthalmol Vis Sci. 2002 Aug;43(8):2540-5.


De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity.

Talks SJ, Ebenezer N, Hykin P, Adams G, Yang F, Schulenberg E, Gregory-Evans K, Gregory-Evans CY.

J Med Genet. 2001 Dec;38(12):E46. No abstract available.


Temporal and spatial expression patterns of the CRX transcription factor and its downstream targets. Critical differences during human and mouse eye development.

Bibb LC, Holt JK, Tarttelin EE, Hodges MD, Gregory-Evans K, Rutherford A, Lucas RJ, Sowden JC, Gregory-Evans CY.

Hum Mol Genet. 2001 Jul 15;10(15):1571-9.


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