Dolgin E. The myopia boom. Nature. 2015;519:276–8.
Article CAS PubMed Google Scholar
Holden BA, Fricke TR, Wilson DA, Jong M, Naidoo KS, Sankaridurg P, Wong TY, Naduvilath TJ, Resnikoff S. Global prevalence of myopia and high myopia and temporal trends from 2000 through 2050. Ophthalmology. 2016;123:1036–42.
Cooper J, Tkatchenko AV. A review of current concepts of the etiology and treatment of myopia. Eye Contact Lens. 2018;44:231–47.
Article PubMed PubMed Central Google Scholar
Tedja MS, Haarman AEG, Meester-Smoor MA, Kaprio J, Mackey DA, Guggenheim JA, Hammond CJ. IMI—myopia genetics report. Invest Ophthalmol Vis Sci. 2019;60:M89–105.
Article CAS PubMed PubMed Central Google Scholar
Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS. Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination. Mol Genet Genomic Med. 2021;9: e1628.
Article CAS PubMed PubMed Central Google Scholar
Magliyah MS, Alsulaiman SM, Nowilaty SR, Alkuraya FS, Schatz P. Rhegmatogenous retinal detachment in nonsyndromic high myopia associated with recessive mutations in LRPAP1. Ophthalmol Retina. 2020;4:77–83.
Jiang D, Li J, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. Invest Ophthalmol Vis Sci. 2014;56:339–45.
Khan AO, Aldahmesh MA, Alkuraya FS. Clinical characterization of LRPAP1-related pediatric high myopia. Ophthalmology. 2016;123:434–5.
Aldahmesh MA, Khan A, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, et al. Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet. 2013;93:313–20.
Article CAS PubMed PubMed Central Google Scholar
Van Leuven F, Hilliker C, Serneels L, Umans L, Overbergh L, De Strooper B, Fryns JP, Van den Berghe H, et al. Cloning, characterization, and chromosomal localization to 4p16 of the human gene (LRPAP1) coding for the alpha 2-macroglobulin receptor-associated protein and structural comparison with the murine gene coding for the 44-kDa heparin-binding protein. Genomics. 1995;25:492–500.
Bu G, Geuze H, Strous GJ, Schwartz AL. 39 kDa receptor-associated protein is an ER resident protein and molecular chaperone for LDL receptor-related protein. EMBO J. 1995;14:2269–80.
Article CAS PubMed PubMed Central Google Scholar
Carter CJ. Convergence of genes implicated in Alzheimer’s disease on the cerebral cholesterol shuttle: APP, cholesterol, lipoproteins, and atherosclerosis. Neurochem Int. 2007;50:12–38.
Article CAS PubMed Google Scholar
Cooper JM, Lathuiliere A, Migliorini M, Arai AL, Wani MM, Dujardin S, Muratoglu SC, Hyman BT, Strickland DK. Regulation of tau internalization, degradation, and seeding by LRP1 reveals multiple pathways for tau catabolism. J Biol Chem. 2021;296: 100715.
Article CAS PubMed PubMed Central Google Scholar
Muratoglu SC, Belgrave S, Lillis AP, Migliorini M, Robinson S, Smith E, Zhang L, Strickland DK. Macrophage LRP1 suppresses neo-intima formation during vascular remodeling by modulating the TGF-β signaling pathway. PLoS ONE. 2011;6: e28846.
Article CAS PubMed PubMed Central Google Scholar
Xie Y, Ouyang X, Wang G. Mechanical strain affects collagen metabolism-related gene expression in scleral fibroblasts. Biomed Pharmacother. 2020;126: 110095.
Article CAS PubMed Google Scholar
Jobling AI, Gentle A, Metlapally R, McGowan BJ, McBrien NA. Regulation of scleral cell contraction by transforming growth factor-beta and stress: competing roles in myopic eye growth. J Biol Chem. 2009;284:2072–9.
Article CAS PubMed Google Scholar
Jobling AI, Nguyen M, Gentle A, McBrien NA. Isoform-specific changes in scleral transforming growth factor-beta expression and the regulation of collagen synthesis during myopia progression. J Biol Chem. 2004;279:18121–6.
Article CAS PubMed Google Scholar
Link BA, Collery RF. Zebrafish Models of Retinal Disease. Annu Rev Vis Sci. 2015;1:125–53.
Noel NCL, MacDonald IM, Allison WT. Zebrafish models of photoreceptor dysfunction and degeneration. Biomolecules. 2021;11:78.
Article CAS PubMed PubMed Central Google Scholar
Kelley LA, Mezulis S, Yates CM, Wass MN, Sternberg MJE. The Phyre2 web portal for protein modeling, prediction and analysis. Nat Protoc. 2015;10:845–58.
Article CAS PubMed PubMed Central Google Scholar
M W. The zebrafish book: a guide for the laboratory use of zebrafish (Danio Rerio). Eugene, University of Oregon Press. 2007.
Kimmel CB, Ballard WW, Kimmel SR, Ullmann B, Schilling TF. Stages of embryonic development of the zebrafish. Dev Dyn. 1995;203:253–310.
Article CAS PubMed Google Scholar
Veth KN, Willer JR, Collery RF, Gray MP, Willer GB, Wagner DS, Mullins MC, Udvadia AJ, Smith RS, John SW, et al. Mutations in zebrafish lrp2 result in adult-onset ocular pathogenesis that models myopia and other risk factors for glaucoma. PLoS Genet. 2011;7: e1001310.
Article CAS PubMed PubMed Central Google Scholar
Collery RF, Veth KN, Dubis AM, Carroll J, Link BA. Rapid, accurate, and non-invasive measurement of zebrafish axial length and other eye dimensions using SD-OCT allows longitudinal analysis of myopia and emmetropization. PLoS ONE. 2014;9: e110699.
Article PubMed PubMed Central Google Scholar
Copper JE, Budgeon LR, Foutz CA, van Rossum DB, Vanselow DJ, Hubley MJ, Clark DP, Mandrell DT, Cheng KC. Comparative analysis of fixation and embedding techniques for optimized histological preparation of zebrafish. Comp Biochem Physiol C Toxicol Pharmacol. 2018;208:38–46.
Article CAS PubMed Google Scholar
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, et al. Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Hum Mol Genet. 2020;29:1882–99.
Article CAS PubMed PubMed Central Google Scholar
Pertea M, Kim D, Pertea GM, Leek JT, Salzberg SL. Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown. Nat Protoc. 2016;11:1650–67.
Article CAS PubMed PubMed Central Google Scholar
Mortazavi A, Williams B, McCue K, Schaeffer L, Wold B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods. 2008;5:621–8.
Article CAS PubMed Google Scholar
Greiling TM, Clark JI. The transparent lens and cornea in the mouse and zebra fish eye. Semin Cell Dev Biol. 2008;19:94–9.
Article CAS PubMed Google Scholar
Jonasova K, Kozmik Z. Eye evolution: lens and cornea as an upgrade of animal visual system. Semin Cell Dev Biol. 2008;19:71–81.
Zhu X, Du Y, Li D, Xu J, Wu Q, He W, Zhang K, Zhu J, Guo L, Qi M, et al. Aberrant TGF-β1 signaling activation by MAF underlies pathological lens growth in high myopia. Nat Commun. 2012;12:2102.
Jobling AI, Wan R, Gentle A, Bui BV, McBrien NA. Retinal and choroidal TGF-beta in the tree shrew model of myopia: isoform expression, activation and effects on function. Exp Eye Res. 2009;88:458–66.
Article CAS PubMed Google Scholar
Li M, Yuan Y, Chen Q, Me R, Gu Q, Yu Y, Sheng M, Ke B. Expression of Wnt/β-catenin signaling pathway and its regulatory role in type i collagen with TGF-β1 in scleral fibroblasts from an experimentally induced myopia guinea pig model. J Ophthalmol. 2016;2016:5126560.
Article PubMed PubMed Central Google Scholar
Korenberg JR, Argraves KM, Chen XN, Tran H, Strickland DK, Argraves WS. Chromosomal localization of human genes for the LDL receptor family member glycoprotein 330 (LRP2) and its associated protein RAP (LRPAP1). Genomics. 1994;22:88–93.
Article CAS PubMed Google Scholar
Williams SE, Ashcom JD, Argraves WS, Strickland DK. A novel mechanism for controlling the activity of alpha 2-macroglobulin receptor/low density lipoprotein receptor-related protein. Multiple regulatory sites for 39-kDa receptor-associated protein. J Biol Chem. 1992;267:9035–40.
Article CAS PubMed Google Scholar
Schnieder J, Mamazhakypov A, Birnhuber A, Wilhelm J, Kwapiszewska G, Ruppert C, Markart P, Wujak L, Rubio K, Barreto G, et al. Loss of LRP1 promotes acquisition of contractile-myofibroblast phenotype and release of active TGF-β1 from ECM stores. Matrix Biol. 2020;88:69–88.
留言 (0)