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Short Communication

PAX6 Mutations May Be Associated with High Myopia

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Pages 179-182 | Received 19 Oct 2006, Accepted 19 Mar 2007, Published online: 08 Jul 2009

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Justin C Sherwin & David A Mackey. (2013) Update on the epidemiology and genetics of myopic refractive error. Expert Review of Ophthalmology 8:1, pages 63-87.
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Lili Dai, Ying Li, Chun Yu Du, Ling Min Gong, Cheng Cheng Han, Xiao Guang Li, Pan Fan & Song Bin Fu. (2012) Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese. Ophthalmic Genetics 33:3, pages 171-178.
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Articles from other publishers (32)

Viney Gupta, Bindu I. Somarajan, Shikha Gupta, Karthikeyan Mahalingam, Abhishek Singh & Arundhati Sharma. (2023) A new association of PAX6 variation with Juvenile onset open angle glaucoma. Journal of Human Genetics 68:5, pages 355-358.
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Antonela Ljubic, Vladimir Trajkovski, Branislav Stankovic, Biljana Tojtovska, Andrea Langmann, Galina Dimitrova, Ivana Jovanovic & Milorad Tesic. (2022) Systemic and Ophthalmic Manifestations in Different Types of Refractive Errors in Patients with Down Syndrome. Medicina 58:8, pages 995.
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Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro & Elena Vallespin. (2021) Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus. Genes 12:5, pages 707.
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Qingjiong Zhang. 2021. Pathologic Myopia. Pathologic Myopia 43 58 .
Daryle Jason G. Yu & Quan V. Hoang. 2021. Pathologic Myopia. Pathologic Myopia 409 422 .
Esther Cross, Philippa J. Duncan-Flavell, Rachel J. Howarth, Richard O. Crooks, N. Simon Thomas & David J. Bunyan. (2020) Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains. European Journal of Medical Genetics 63:7, pages 103940.
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J. Moravikova, Z. Kozmik, L. Hlavata, M. Putzova, P. Skalicka, M. Michaelides, F. Malinka, Lubica Dudakova & P. Liskova. (2020) Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants. Folia Biologica 66:4, pages 123-132.
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Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson & Dwight Stambolian. (2019) Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families. BMC Medical Genetics 20:1.
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Claudia Yahalom, Anat Blumenfeld, Karen Hendler, Orly Wussuki-Lior, Michal Macarov, Mordechai Shohat & Samer Khateb. (2018) Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease. Graefe's Archive for Clinical and Experimental Ophthalmology 256:11, pages 2157-2164.
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Sofía Pérez-Solórzano, Oscar F Chacón-Camacho, Mirena C Astiazarán, Gerardo Ledesma-Gil & Juan Carlos Zenteno. (2017) PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants . Clinical & Experimental Ophthalmology 45:9, pages 875-883.
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Russell Powell. (2015) In Genes We Trust: Germline Engineering, Eugenics, and the Future of the Human Genome. The Journal of Medicine and Philosophy: A Forum for Bioethics and Philosophy of Medicine 40:6, pages 669-695.
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Elena Piozzi & Davide Allegrini. 2015. Aniridia. Aniridia 105 118 .
Shu Min Tang, Shi Song Rong, Alvin L. Young, Pancy O. S. Tam, Chi Pui Pang & Li Jia Chen. (2014) PAX6 Gene Associated with High Myopia. Optometry and Vision Science 91:4, pages 419-429.
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Quan V. Hoang, Jamie A. Leong & Roberto Gallego-Pinazo. 2014. Pathologic Myopia. Pathologic Myopia 333 344 .
Melanie Hingorani. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.
Felicia A. Hawthorne & Terri L. Young. (2013) Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. Experimental Eye Research 114, pages 141-149.
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V. Kh. Khavinson, V. E. Pronyaeva, N. S. Linkova & S. V. Trofimova. (2013) Peptidegic Regulation of Differentiation of Embryonic Retinal Cells. Bulletin of Experimental Biology and Medicine 155:1, pages 172-174.
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Alice D. McTrusty, Daphne L. McCulloch, Niall C. Strang, Angela McCall, Stuart Parks, Alison Brown & Graeme J. Kennedy. (2013) Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs. Documenta Ophthalmologica 126:2, pages 171-176.
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Y Li, C A Shaw, I Sheffer, N Sule, S Z Powell, B Dawson, S N Y Zaidi, K L Bucasas, J R Lupski, K C Wilhelmsen, R Doody & K Szigeti. (2012) Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer’s disease. Translational Psychiatry 2:11, pages e192-e192.
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Melanie Hingorani, Isabel Hanson & Veronica van Heyningen. (2012) Aniridia. European Journal of Human Genetics 20:10, pages 1011-1017.
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Hyun Taek Lim, Eul-Ju Seo, Gu-Hwan Kim, Hyosook Ahn, Hye-jin Lee, Kwang Hun Shin, Jong-Keuk Lee & Han-Wook Yoo. (2012) Comparison between Aniridia with and without PAX6 Mutations. Ophthalmology 119:6, pages 1258-1264.
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Thomas S. Becker & Silke Rinkwitz. (2012) Zebrafish as a genomics model for human neurological and polygenic disorders. Developmental Neurobiology 72:3, pages 415-428.
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Peter A. Netland, Michele L. Scott, John W. BoyleIVIV & James D. Lauderdale. (2011) Ocular and systemic findings in a survey of aniridia subjects. Journal of American Association for Pediatric Ophthalmology and Strabismus 15:6, pages 562-566.
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Antje Brockschmidt, Alida Filippi, Peter Charbel Issa, Michael Nelles, Horst Urbach, Nicole Eter, Wolfgang Driever & Ruthild G. Weber. (2011) Neurologic and ocular phenotype in Pitt–Hopkins syndrome and a zebrafish model. Human Genetics 130:5, pages 645-655.
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Kevin Gregory-Evans, Richard Cheong-Leen, Sheena M. George, Judy Xie, Mariya Moosajee, Patricio Colapinto & Cheryl Y. Gregory-Evans. (2011) Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. Canadian Journal of Ophthalmology 46:4, pages 337-344.
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Bo Jiang, Maurice K. H. Yap, Kim Hung Leung, Po Wah Ng, Wai Yan Fung, Wai Wa Lam, Yang-shun Gu & Shea Ping Yip. (2011) PAX6 Haplotypes Are Associated with High Myopia in Han Chinese. PLoS ONE 6:5, pages e19587.
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O. A. Podkolodnaya, E. E. Yarkova, P. S. Demenkov, O. S. Konovalova, V. A. Ivanisenko & N. A. Kolchanov. (2011) Application of the ANDCell computer system to reconstruction and analysis of associative networks describing potential relationships between myopia and glaucoma. Russian Journal of Genetics: Applied Research 1:1, pages 21-28.
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Paul G. Sanfilippo, Alex W. Hewitt, Chris J. Hammond & David A. Mackey. (2010) The Heritability of Ocular Traits. Survey of Ophthalmology 55:6, pages 561-583.
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Paul N. Baird, Maria Schäche & Mohamed Dirani. (2010) The GEnes in Myopia (GEM) study in understanding the aetiology of refractive errors. Progress in Retinal and Eye Research 29:6, pages 520-542.
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H-J Lin, L Wan, Y Tsai, W-C Chen, S-W Tsai & F-J Tsai. (2009) The association between lumican gene polymorphisms and high myopia. Eye 24:6, pages 1093-1101.
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Sundar Veerappan, Kelly K. Pertile, Amirul F.M. Islam, Maria Schäche, Christine Y. Chen, Paul Mitchell, Mohamed Dirani & Paul N. Baird. (2010) Role of the Hepatocyte Growth Factor Gene in Refractive Error. Ophthalmology 117:2, pages 239-245.e2.
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Regan S. Ashby, Pam L. Megaw & Ian G. Morgan. (2009) Changes in the expression of Pax6 RNA transcripts in the retina during periods of altered ocular growth in chickens. Experimental Eye Research 89:3, pages 392-397.
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